ClinVar for Gene (Select 6442) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384024	NM_000023.4(SGCA):c.920del (p.Leu307fs)	SGCA (L307fs)	Deletion (frameshift variant +1 more)	Muscular dystrophy	GPathogenic
Select item 3383365	NM_000023.4(SGCA):c.202G>A (p.Gly68Arg)	SGCA (G68R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 3366416	NM_000023.4(SGCA):c.266_267delinsCT (p.Leu89Pro)	SGCA (L89P)	Indel (missense variant +1 more)	not specified	GUncertain significance
Select item 3343250	NM_000023.4(SGCA):c.421C>G (p.Arg141Gly)	SGCA (R141G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340141	NM_000023.4(SGCA):c.983+1G>C	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 3338435	GRCh37/hg19 17q21.33(chr17:48247452-48247763)x0	SGCA	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 3317906	NM_000023.4(SGCA):c.499C>A (p.Pro167Thr)	SGCA (P167T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3240447	NM_000023.4(SGCA):c.983+5G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 3240446	NM_000023.4(SGCA):c.409G>T (p.Glu137Ter)	SGCA (E137*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 3240445	NM_000023.4(SGCA):c.270C>G (p.Tyr90Ter)	SGCA (Y90*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 3240444	NM_000023.4(SGCA):c.385+2T>C	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 3240443	NM_000023.4(SGCA):c.704C>T (p.Thr235Ile)	SGCA (T235I)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 3240442	NM_000023.4(SGCA):c.385+1G>T	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 3233928	NM_000023.4(SGCA):c.278C>T (p.Ala93Val)	SGCA (A93V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063531	GRCh37/hg19 17q21.33(chr17:48176031-48440167)x3	COL1A1, PDK2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3042872	NM_000023.4(SGCA):c.-9C>T	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	SGCA-related disorder	GLikely benign
Select item 3023771	NM_000023.4(SGCA):c.748-6G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 3022653	NM_000023.4(SGCA):c.385+17C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 3012236	NM_000023.4(SGCA):c.984-15C>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 3008004	NM_000023.4(SGCA):c.983+11G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 3000945	NM_000023.4(SGCA):c.747+19T>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2999834	NM_000023.4(SGCA):c.321C>T (p.Ala107=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2997307	NM_000023.4(SGCA):c.138G>A (p.Leu46=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2996694	NM_000023.4(SGCA):c.363G>A (p.Val121=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2985044	NM_000023.4(SGCA):c.157+15A>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2983162	NM_000023.4(SGCA):c.313-17T>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2980368	NM_000023.4(SGCA):c.1092T>C (p.Asn364=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2977027	NM_000023.4(SGCA):c.385+16C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2974891	NM_000023.4(SGCA):c.585-27C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2974203	NM_000023.4(SGCA):c.312+8dup	SGCA	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2972686	NM_000023.4(SGCA):c.300C>G (p.Leu100=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2972179	NM_000023.4(SGCA):c.585-12A>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2969559	NM_000023.4(SGCA):c.315C>G (p.Val105=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2969415	NM_000023.4(SGCA):c.385+15G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2920016	NM_000023.4(SGCA):c.535T>C (p.Leu179=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2919045	NM_000023.4(SGCA):c.747+20C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2917512	NM_000023.4(SGCA):c.747+17G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2915666	NM_000023.4(SGCA):c.983+18G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2915397	NM_000023.4(SGCA):c.584+19A>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2911558	NM_000023.4(SGCA):c.956+13A>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2911060	NM_000023.4(SGCA):c.584+11A>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2908339	NM_000023.4(SGCA):c.970C>T (p.Leu324=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2906110	NM_000023.4(SGCA):c.584+20G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2904810	NM_000023.4(SGCA):c.747+13C>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2899999	NM_000023.4(SGCA):c.453A>G (p.Ser151=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2898018	NM_000023.4(SGCA):c.158-11G>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2884478	NM_000023.4(SGCA):c.386-17C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2884094	NM_000023.4(SGCA):c.984-6C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2882831	NM_000023.4(SGCA):c.585-27del	SGCA	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2879990	NM_000023.4(SGCA):c.1078C>T (p.Leu360=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2879989	NM_000023.4(SGCA):c.1074C>T (p.Ser358=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2878636	NM_000023.4(SGCA):c.421C>T (p.Arg141Cys)	SGCA (R141C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2874698	NM_000023.4(SGCA):c.957-19C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2866225	NM_000023.4(SGCA):c.983+16_983+17insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGGAAAGC	SGCA	Insertion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2862249	NM_000023.4(SGCA):c.217C>T (p.Pro73Ser)	SGCA (P73S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2860537	NM_000023.4(SGCA):c.922C>T (p.Leu308=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2852996	NM_000023.4(SGCA):c.386-19G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2850817	NM_000023.4(SGCA):c.585-28G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2848431	NM_000023.4(SGCA):c.748-7T>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2846140	NM_000023.4(SGCA):c.983+19G>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2846005	NM_000023.4(SGCA):c.38-14del	SGCA	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2842791	NM_000023.4(SGCA):c.618_619del (p.Ser207fs)	SGCA (S207fs)	Deletion (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 2841882	NM_000023.4(SGCA):c.584+9G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2837981	NM_000023.4(SGCA):c.584G>T (p.Gly195Val)	SGCA (G195V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2837324	NM_000023.4(SGCA):c.903C>T (p.Ala301=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2833229	NM_000023.4(SGCA):c.1071C>T (p.Leu357=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2832263	NM_000023.4(SGCA):c.706T>C (p.Leu236=)	SGCA	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2831098	NM_000023.4(SGCA):c.468C>G (p.Arg156=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2831006	NM_000023.4(SGCA):c.585-33A>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2829332	NM_000023.4(SGCA):c.30C>G (p.Leu10=)	SGCA	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2826896	NM_000023.4(SGCA):c.747+14C>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2826494	NM_000023.4(SGCA):c.481T>C (p.Leu161=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2823632	NM_000023.4(SGCA):c.385+11C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2821596	NM_000023.4(SGCA):c.29_33del (p.Leu10fs)	SGCA (L10fs)	Microsatellite (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 2819987	NM_000023.4(SGCA):c.927C>T (p.Ala309=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2810285	NM_000023.4(SGCA):c.957-6C>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2803353	NM_000023.4(SGCA):c.585-30C>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2801556	NM_000023.4(SGCA):c.393G>A (p.Leu131=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2801191	NM_000023.4(SGCA):c.386-9C>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2798167	NM_000023.4(SGCA):c.1068A>G (p.Pro356=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2796597	NM_000023.4(SGCA):c.312+16del	SGCA	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2794404	NM_000023.4(SGCA):c.983+22del	SGCA	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GBenign
Select item 2794282	NM_000023.4(SGCA):c.584+18G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2794186	NM_000023.4(SGCA):c.645C>G (p.Ser215=)	SGCA	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2783601	NM_000023.4(SGCA):c.386-18T>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2783035	NM_000023.4(SGCA):c.132G>C (p.Thr44=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2779388	NM_000023.4(SGCA):c.956+18G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2779011	NM_000023.4(SGCA):c.603T>C (p.Gly201=)	SGCA	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2776637	NM_000023.4(SGCA):c.780G>A (p.Glu260=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2766724	NM_000023.4(SGCA):c.984-20C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2765808	NM_000023.4(SGCA):c.957-12A>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2765578	NM_000023.4(SGCA):c.312+18G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2763542	NM_000023.4(SGCA):c.462C>A (p.Ala154=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2757475	NM_000023.4(SGCA):c.1080G>A (p.Leu360=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2756885	NM_000023.4(SGCA):c.1044G>T (p.Ala348=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2756353	NM_000023.4(SGCA):c.1033C>A (p.Arg345=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2746413	NM_000023.4(SGCA):c.385+10G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 2744057	NM_000023.4(SGCA):c.37+20A>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign

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