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The variants below are all in the SGCB database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than SGCB, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the SGCB full legend here.

373 public entries
entries per page

Path.

Exon

Genet_ori

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Reference

Template

Technique

Frequency

RE-site

Phenotype

Phenotype additional

Reference

Remarks

Geographic origin

Ethnic origin

Gender

Inheritance

Consanguinity

Fam_Pat

# reported

CK level

Protein data


-/?	1	germline (inherited)	c.-189G>T + 75 others	-	r.(?)	p.(=)	SGCB_00040	-	dbSNP-rs10434429	DNA	SEQ	-	-	-	-	JdD	-	-	-	?	unknown	-	-	1	-	-
+/?	1_8	germline (inherited)	c.-60-?_3251+?del + c.-60-?_3251+?del	-	r.0	p.(0)	SGCB_00050	deletion ~400 Kb	Kaindl 2005	DNA	PCR	-	-	muscular dystrophy, Duchenne-like	hyperlaxity and joint contractures, chest pain, palpitations, dyspnea, several deaths of heart failure	JdD	East Anatolia, 6 affecteds	Turkey	-	-	isolated (sporadic)	-	-	1	-	-
+/?	1_8	germline (inherited)	c.-60-?_3251+?del + c.-60-?_3251+?del	-	r.0	p.(0)	SGCB_00050	-	Kaindl 2005	DNA	PCR	-	-	muscular dystrophy, Duchenne-like	hyperlaxity and joint contractures, chest pain, palpitations, dyspnea, several deaths of heart failure	JdD	East Anatolia, 6 affecteds	Turkey	-	-	isolated (sporadic)	-	-	1	-	-
?/?	1	unknown	c.-26A>G	-26G>A	r.(?)	p.(=)	SGCB_00084	-	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
+/?	1	germline (inherited)	c.-22_33+?dup + c.128dupG	10(-22_33+?dup)	r.(?)	p.?	SGCB_00073	duplication <4.5 Kb	Trabelsi 2008, Saillour 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	severe	JdD	-	(France)	-	-	familial	-	-	2	-	WB no SGCA, no SGCG
+/?	1	germline (inherited)	c.-22_33+?dup + c.?	10(-22_33+?dup)	r.(?)	p.?	SGCB_00073	duplication <4.5 Kb	Trabelsi 2008, Saillour 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	severe	Macedonia:Skopje	-	(France)	-	-	isolated (sporadic)	yes	-	1	-	-
+/?	1	germline (inherited)	c.-22_33+?dup + SGCD (1)	10(-22_33+?dup)	r.(?)	p.?	SGCB_00073	duplication <4.5 Kb	Trabelsi 2008, Saillour 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	severe	JdD	-	(France)	-	-	isolated (sporadic)	-	-	1	-	WB no SGCA, no SGCG
-/?	1	unknown	c.-20del	-20delG	r.(?)	p.(=)	SGCB_00085	-	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
+/?	1	germline (inherited)	c.-18_8dup + c.-18_8dup	4-22_4dup26	r.(?)	p.?	SGCB_00075	-	Trabelsi 2008, Saillour 2008	DNA	aCGH, SEQ	-	-	Limb Girdle muscular dystrophy	mild	Macedonia:Skopje	-	(France)	-	-	isolated (sporadic)	?	-	1	-	WB no SGCA, SGCG reduced
+/?	1	germline (inherited)	c.-18_8dup + c.-18_8dup	4-22_4dup26	r.(?)	p.?	SGCB_00075	-	Trabelsi 2008, Saillour 2008	DNA	SEQ, aCGH	-	-	Limb Girdle muscular dystrophy	mild	Macedonia:Skopje	-	(France)	-	-	isolated (sporadic)	?	-	1	-	WB no SGCA, SGCG reduced
+/?	1	germline (inherited)	c.-10_16del + c.299T>A	-	r.(?)	p.0?	SGCB_00043	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Portugal:Porto	-	Portugal	-	M	familial	-	-	1	-	-
+?/?	1	germline (inherited)	c.-10_16dup + c.699_702del	-10_16dup26	r.(?)	p.?	SGCB_00083	-	-	DNA	PCR, SEQ	-	-	LGMD2E	LGMD phenotype, muscle weakness, cardiomyopathy; DMD testing negative	United States:Marshfield, WI	-	United States	Caucasian	M	unknown	-	-	1	-	-
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	-22_10dup	r.-22_10dup	p.(Ala8Glyfs*22)?	SGCB_00031	-	Boito	DNA, RNA	RT-PCR, SSCA	-	-	LGMD;CMD	-	JdD	-	Italy	-	M	isolated (sporadic)	-	-	1	-	WB SGCA 10%, IHC SGCA, SGCB, SGCG, SGCD severly reduced
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	-22_10dup	r.-22_10dup	p.(Ala8Glyfs*22)?	SGCB_00031	-	Boito	DNA, RNA	RT-PCR, SSCA	-	-	LGMD;CMD	-	JdD	-	Italy	-	M	isolated (sporadic)	-	-	1	-	WB SGCA 10%, IHC SGCA, SGCB, SGCG, SGCD severly reduced
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	-22_10dup	r.-22_10dup	p.(Ala8Glyfs*22)?	SGCB_00031	-	Fanin 2003	DNA, RNA	RT-PCR, SSCA	-	-	Limb Girdle muscular dystrophy	cardiomyopathy	JdD	-	Italy	-	M	isolated (sporadic)	-	-	1	-	IHC severly reduced SGCs, WB 10% SGCA
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	-22_10dup	r.-22_10dup	p.(Ala8Glyfs*22)?	SGCB_00031	-	Fanin 2003	DNA, RNA	RT-PCR, SSCA	-	-	Limb Girdle muscular dystrophy	cardiomyopathy	JdD	-	Italy	-	M	isolated (sporadic)	-	-	1	-	IHC severly reduced SGCs, WB 10% SGCA
?/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup, SGCA (1), SGCZ (1), SGCG (1)	-	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup, SGCA (1), SGCZ (1), SGCG (1)	-	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup, SGCA (1), SGCZ (1), SGCG (1)	-	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup, SGCA (1), SGCZ (1), SGCG (1)	-	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	10-22_10dup32	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	Trabelsi 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	mild	JdD	-	(France)	-	-	familial	-	-	2	-	WB no SGCA, no SGCG
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	10-22_10dup32	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	Trabelsi 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	mild	JdD	-	(France)	-	-	familial	-	-	2	-	WB no SGCA, no SGCG
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	23_54ins	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	Klinge 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	intermediate, no cardiac involvement; no respiratory involvement; no skeletal deformity	JdD	relative of 18996010.12b	(United Kingdom)	-	-	unknown	-	-	1	2000 (26y)	WB SGCA reduced, SGCG absent, DAG1 severely reduced, DMD normal
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	23_54ins	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	Klinge 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	intermediate, no cardiac involvement; no respiratory involvement; no skeletal deformity	JdD	relative of 18996010.12b	(United Kingdom)	-	-	unknown	-	-	1	2000 (26y)	WB SGCA reduced, SGCG absent, DAG1 severely reduced, DMD normal
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	23_54ins	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	Klinge 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	intermediate, no cardiac involvement; no respiratory involvement; no skeletal deformity	JdD	relative of 18996010.12a	(United Kingdom)	-	-	unknown	-	-	1	3358 (23y)	WB SGCA severely reduced, SGCG absent, DAG1 absent, DMD slightly reduced/normal
+/?	1	germline (inherited)	c.-10_22dup + c.-10_22dup	23_54ins	r.(?)	p.(Ala8Glyfs*22)?	SGCB_00031	-	Klinge 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	intermediate, no cardiac involvement; no respiratory involvement; no skeletal deformity	JdD	relative of 18996010.12a	(United Kingdom)	-	-	unknown	-	-	1	3358 (23y)	WB SGCA severely reduced, SGCG absent, DAG1 absent, DMD slightly reduced/normal
?/?	1_8	germline (inherited)	c.= + SGCA (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.=	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.=	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.=	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (3), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2D (LGMD-2D)	mild, still ambulatory, respiratory insufficiency	Germany:Bochum	brother of 15298081.2	Germany	-	M	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCZ (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	Germany	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCG (2)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	Greece	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (2), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	Norway	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCG (2), SGCA (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCA (1), SGCZ (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCG (2), SGCA (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.=	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
?/?	1_8	germline (inherited)	c.= + SGCZ (1), SGCA (1), SGCG (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
-/-	1_8	germline (inherited)	c.= + SGCG (1), SGCA (1)	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
-/-	1_8	germline (inherited)	c.= + c.33+1G>C	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
-/-	1_8	germline (inherited)	c.= + c.341C>T	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
-/-	1_8	germline (inherited)	c.= + c.1_2del	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
-/-	1_8	germline (inherited)	c.= + c.499G>A	-	r.(=)	p.(=)	SGCB_00000	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
+/?	1_8	germline (inherited)	c.? + c.341C>T	-	r.(?)	p.?	SGCB_00000	unknown variant 2nd chromosome	-	DNA	?	-	-	muscular dystrophy, Duchenne-like	-	Netherlands:Leiden	-	Netherlands	-	F	isolated (sporadic)	?	-	1	60x	IHC SGCA, SGCB reduced, SGCG slightly reduced
+/?	1_8	germline (inherited)	c.? + c.341C>T	-	r.(?)	p.?	SGCB_00000	unknown variant 2nd chromosome	-	DNA	?	-	-	Limb Girdle muscular dystrophy	severe	JdD	-	(France)	-	-	isolated (sporadic)	?	-	1	-	WB no SGCA, no SGCG
+/?	1_8	germline (inherited)	c.? + c.-22_33+?dup	-	r.(?)	p.?	SGCB_00000	unknown variant 2nd chromosome	-	DNA	?	-	-	Limb Girdle muscular dystrophy	severe	Macedonia:Skopje	-	(France)	-	-	isolated (sporadic)	yes	-	1	-	-
+/?	1_8	germline (inherited)	c.? + c.341C>T	-	r.(?)	p.?	SGCB_00000	unknown variant 2nd chromosome	-	DNA	?	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	severe, no cardiac involvement; no respiratory involvement; no skeletal deformity	JdD	-	(United Kingdom)	-	-	unknown	-	-	1	2300 (7y)	WB SGCA absent, SGCG absent, DAG1 severely reduced, DMD reduced
+/?	1	germline (inherited)	c.1A>T + c.1A>T	-	r.(?)	p.(0?)	SGCB_00027	-	Dincer 2004, Acta Myologica XXIII: 67	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	mild	JdD	-	Turkey	-	-	unknown	-	-	1	-	WB/IHC SGCB absent
+/?	1	germline (inherited)	c.1A>T + c.1A>T	-	r.(?)	p.(0?)	SGCB_00027	-	Dincer 2004, Acta Myologica XXIII: 67	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	mild	JdD	-	Turkey	-	-	unknown	-	-	1	-	WB/IHC SGCB absent
+/?	1	germline (inherited)	c.1A>T + c.265G>A	-	r.(?)	p.(0?)	SGCB_00027	-	Dincer 2004, Acta Myologica XXIII: 67	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	mild	JdD	-	Turkey	-	-	unknown	-	-	1	-	WB/IHC SGCB absent
+/?	1	germline (inherited)	c.1A>T + c.265G>A	-	r.(?)	p.(0?)	SGCB_00027	-	Dincer 2004, Acta Myologica XXIII: 67	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	mild	JdD	-	Turkey	-	-	unknown	-	-	1	-	-
+/?	1	germline (inherited)	c.1_2del + c.341C>T, SGCA (1), SGCZ (1), SGCG (1)	-	r.(?)	p.0?	SGCB_00059	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
+/?	1	germline (inherited)	c.1_2del + c.341C>T, SGCA (1), SGCZ (1), SGCG (1)	-	r.(?)	p.0?	SGCB_00059	-	-	DNA	SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
+/?	1	germline (inherited)	c.1_2del + c.1_2del, SGCA (1)	-	r.(?)	p.(0?)	SGCB_00059	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
+/?	1	germline (inherited)	c.1_2del + c.1_2del, SGCA (1)	-	r.(?)	p.(0?)	SGCB_00059	-	-	DNA	MLPA, SEQ	-	-	Limb Girdle muscular dystrophy	-	Germany:Bochum	-	(Germany)	-	?	unknown	-	-	1	-	-
+/?	1	germline (inherited)	c.1_2del + c.341C>T	-	r.(?)	p.(0?)	SGCB_00059	-	Klinge 2008	DNA	SEQ	-	-	Limb Girdle muscular dystrophy, type 2E (LGMD-2E)	severe, no cardiac involvement; respiratory involvement; scoliosis	JdD	-	(United Kingdom)	-	-	unknown	-	-	1	8812 (12y)	WB SGCA reduced, SGCG absent, DAG1 reduced, DMD slightly reduced/normal

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The allelic variants listed are a collection of those we have found in literature and which were submitted directly to this database. Please, when you notice that we have missed allelic variants or when you detect mistakes, let us know (thank you)

Legend: [ SGCB full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant affecting function (pathogenicity), in the format Reported/Concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown. Exon: number of exon/intron containing variant Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change SGCB DB-ID: DB-ID Variant remarks: Variant remarks Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site Phenotype: phenotype of the individual Phenotype additional: detailed phenotypic features of the individual Reference: publication describing the phenotype of the patient Remarks: Remarks Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # reported: Number of times this case has been reported CK level: CK level Protein data: Protein data

Leiden Muscular Dystrophy pages

Sarcoglycan-beta (SGCB)