Related gene-specific medical variations for Gene (Select 6442) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690699	NM_000023.4(SGCA):c.212A>T (p.Asp71Val)	SGCA (D71V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2690698	NM_000023.4(SGCA):c.558_559del (p.Leu187fs)	SGCA (L187fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2690697	NM_000023.4(SGCA):c.584+5G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2690696	NM_000023.4(SGCA):c.194A>C (p.His65Pro)	SGCA (H65P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2689954	NM_000023.4(SGCA):c.635T>C (p.Met212Thr)	SGCA (M212T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2678679	NM_000023.4(SGCA):c.1052del (p.Arg351fs)	SGCA (R227fs +1 more)	Deletion (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678678	NM_000023.4(SGCA):c.762del (p.Pro255fs)	SGCA (P255fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678677	NM_000023.4(SGCA):c.960_961insTC (p.Lys321fs)	SGCA (K197fs +1 more)	Insertion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678676	NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)	SGCA (W7*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678675	NM_000023.4(SGCA):c.262_269dup (p.Gly91fs)	SGCA (G91fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678674	NM_000023.4(SGCA):c.157+2T>G	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678672	NM_000023.4(SGCA):c.37+3A>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678671	NM_000023.4(SGCA):c.725T>C (p.Val242Ala)	SGCA (V242A)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678670	NM_000023.4(SGCA):c.794del (p.Gly265fs)	SGCA (G265fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678669	NM_000023.4(SGCA):c.71del (p.Gln24fs)	SGCA (Q24fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678668	NM_000023.4(SGCA):c.488_489delinsT (p.Gly163fs)	SGCA (G163fs)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678667	NM_000023.4(SGCA):c.386-1G>A	SGCA	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678666	NM_000023.4(SGCA):c.582dup (p.Gly195fs)	SGCA (G195fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2678663	NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)	SGCA (Y233*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 2435892	NM_000023.4(SGCA):c.760G>T (p.Val254Leu)	SGCA (V254L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2435891	NM_000023.4(SGCA):c.304G>T (p.Val102Phe)	SGCA (V102F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2435890	NM_000023.4(SGCA):c.985A>T (p.Ile329Phe)	SGCA (I205F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2435889	NM_000023.4(SGCA):c.157G>T (p.Ala53Ser)	SGCA (A53S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2435888	NM_000023.4(SGCA):c.749T>G (p.Val250Gly)	SGCA (V250G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 1068994	NC_000017.10:g.(?_48243138)_48245027del	SGCA	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
Select item 324052	NM_000023.4(SGCA):c.*227G>A	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 324051	NM_000023.4(SGCA):c.*166A>G	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GBenign
Select item 324050	NM_000023.4(SGCA):c.*148G>A	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 324049	NM_000023.4(SGCA):c.*134del	LOC121587601, SGCA	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324048	NM_000023.4(SGCA):c.*92C>T	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GBenign
Select item 324047	NM_000023.4(SGCA):c.*90A>G	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 254722	NM_000023.4(SGCA):c.957-43G>A	SGCA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 9440	SGCA, TYR134TER	SGCA	Variation	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic

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Items: 33