ClinVar for MedGen (Select 424705) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 892407	NM_000023.4(SGCA):c.-19C>T	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 891267	NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)	SGCA (R227C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 891266	NM_000023.4(SGCA):c.958C>T (p.Leu320=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 889019	NM_000023.4(SGCA):c.488G>C (p.Gly163Ala)	SGCA (G163A)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 889018	NM_000023.4(SGCA):c.485G>A (p.Gly162Glu)	SGCA (G162E)	Single nucleotide variant (missense variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 883804	NM_000231.3(SGCG):c.*54C>T	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 883803	NM_000231.3(SGCG):c.*43G>A	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy	GUncertain significance
Select item 883756	NM_000231.2(SGCG):c.-114C>T	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 883023	NM_000231.3(SGCG):c.750G>A (p.Gly250=)	SGCG	Single nucleotide variant (synonymous variant)	Sarcoglycanopathy	GUncertain significance
Select item 881923	NM_000231.3(SGCG):c.*546T>C	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy	GBenign
Select item 881922	NM_000231.3(SGCG):c.*505A>G	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy	GBenign
Select item 881921	NM_000231.3(SGCG):c.*345A>T	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy	GUncertain significance
Select item 881920	NM_000231.3(SGCG):c.*296G>A	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy +1 more	GBenign/Likely benign
Select item 881919	NM_000231.3(SGCG):c.*291A>G	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy	GLikely benign
Select item 881856	NM_000231.3(SGCG):c.570A>G (p.Gln190=)	SGCG	Single nucleotide variant (synonymous variant)	Sarcoglycanopathy	GUncertain significance
Select item 881855	NM_000231.3(SGCG):c.473T>C (p.Val158Ala)	SGCG (V158A +1 more)	Single nucleotide variant (missense variant)	Sarcoglycanopathy	GUncertain significance
Select item 881854	NM_000231.3(SGCG):c.392A>G (p.Lys131Arg)	SGCG (K149R +1 more)	Single nucleotide variant (missense variant)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 881476	NM_000231.3(SGCG):c.*167C>T	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy	GLikely benign
Select item 881475	NM_000231.3(SGCG):c.*145G>C	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 881418	NM_000231.3(SGCG):c.259T>C (p.Leu87=)	SGCG	Single nucleotide variant (synonymous variant)	Sarcoglycanopathy +1 more	GConflicting classifications of pathogenicity
Select item 747657	NM_000023.4(SGCA):c.956+7G>A	SGCA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 706196	NM_000231.3(SGCG):c.615C>A (p.Ala205=)	SGCG	Single nucleotide variant (synonymous variant)	Sarcoglycanopathy +1 more	GConflicting classifications of pathogenicity
Select item 691731	NM_000231.3(SGCG):c.371G>T (p.Gly124Val)	SGCG (G124V +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 657550	NM_000023.4(SGCA):c.312+5C>T	SGCA	Single nucleotide variant (intron variant)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 548510	NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)	SGCG (I218T +1 more)	Single nucleotide variant (missense variant)	Sarcoglycanopathy +2 more	GUncertain significance
Select item 510270	NM_000231.3(SGCG):c.505+15G>A	SGCG	Single nucleotide variant (intron variant)	Sarcoglycanopathy +2 more	GConflicting classifications of pathogenicity
Select item 324052	NM_000023.4(SGCA):c.*227G>A	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GLikely benignFDA Recognized database
Select item 324051	NM_000023.4(SGCA):c.*166A>G	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 324048	NM_000023.4(SGCA):c.*92C>T	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 324046	NM_000023.4(SGCA):c.*10C>G	SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +3 more	GBenign
Select item 324045	NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp)	SGCA (R355W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GUncertain significance
Select item 324044	NM_000023.4(SGCA):c.690G>A (p.Leu230=)	SGCA	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 324043	NM_000023.4(SGCA):c.648C>T (p.Pro216=)	SGCA	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 324042	NM_000023.4(SGCA):c.158-10C>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 324041	NM_000023.4(SGCA):c.158-11G>A	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GConflicting classifications of pathogenicity
Select item 324040	NM_000023.4(SGCA):c.-5C>G	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GUncertain significance
Select item 324039	NM_000023.4(SGCA):c.-18G>A	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 324038	NM_000023.4(SGCA):c.-28C>T	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 324037	NM_000023.4(SGCA):c.-31T>C	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 311486	NM_000231.3(SGCG):c.*295T>C	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +4 more	GBenign/Likely benign
Select item 311485	NM_000231.3(SGCG):c.*185G>A	SGCG	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy	GBenignFDA Recognized database
Select item 311484	NM_000231.3(SGCG):c.*136T>C	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +4 more	GBenign/Likely benign
Select item 311483	NM_000231.3(SGCG):c.*136T>A	SGCG	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311482	NM_000231.3(SGCG):c.*53C>A	SGCG	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 311481	NM_000231.3(SGCG):c.703C>T (p.Leu235Phe)	SGCG (L235F +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 311480	NM_000231.3(SGCG):c.479T>C (p.Val160Ala)	SGCG (V160A +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +2 more	GConflicting classifications of pathogenicity
Select item 311479	NM_000231.3(SGCG):c.-6T>C	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 311478	NM_000231.3(SGCG):c.-88G>A	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	Limb-girdle muscular dystrophy, recessive +2 more	GBenign/Likely benign
Select item 311477	NM_000231.2(SGCG):c.-118G>A	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 311476	NM_000231.2(SGCG):c.-125A>G	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 291214	NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)	SGCG (Y6C +1 more)	Single nucleotide variant (missense variant)	Sarcoglycanopathy +2 more	GUncertain significance
Select item 290709	NM_000023.4(SGCA):c.657C>T (p.His219=)	SGCA	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289773	NM_000023.4(SGCA):c.555C>A (p.Val185=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GConflicting classifications of pathogenicity
Select item 288428	NM_000231.3(SGCG):c.*254G>A	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy +5 more	GBenign/Likely benign
Select item 288271	NM_000023.4(SGCA):c.-8G>A	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +3 more	GBenign
Select item 285931	NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)	SGCA (P255L)	Single nucleotide variant (missense variant +1 more)	Sarcoglycanopathy +2 more	GConflicting classifications of pathogenicity
Select item 285833	NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)	SGCG (G278S +1 more)	Single nucleotide variant (missense variant)	Sarcoglycanopathy +3 more	GConflicting classifications of pathogenicity
Select item 285130	NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)	SGCG (R199Q +1 more)	Single nucleotide variant (missense variant)	Sarcoglycanopathy +3 more	GUncertain significance
Select item 284945	NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	SGCA (Y134*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GConflicting classifications of pathogenicity
Select item 284685	NM_000023.4(SGCA):c.307A>G (p.Ile103Val)	SGCA (I103V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GConflicting classifications of pathogenicity
Select item 283448	NM_000023.4(SGCA):c.80C>T (p.Thr27Met)	SGCA (T27M)	Single nucleotide variant (missense variant +1 more)	Sarcoglycanopathy +2 more	GConflicting classifications of pathogenicity
Select item 282511	NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)	SGCA (Y310C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 255599	NM_000231.3(SGCG):c.*10G>A	SGCG	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 254721	NM_000023.4(SGCA):c.662G>A (p.Arg221His)	SGCA (R221H)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 198033	NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)	SGCA (P227R)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 198032	NM_000023.4(SGCA):c.690G>C (p.Leu230=)	SGCA	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +3 more	GConflicting classifications of pathogenicity
Select item 197618	NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)	SGCA (R141S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +3 more	GConflicting classifications of pathogenicity
Select item 167678	NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)	SGCA (R374C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 167677	NM_000023.4(SGCA):c.739G>A (p.Val247Met)	SGCA (V247M)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 130295	NM_000231.3(SGCG):c.435C>T (p.Asn145=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +3 more	GBenign
Select item 130294	NM_000023.4(SGCA):c.933C>T (p.Val311=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Sarcoglycanopathy +3 more	GBenign
Select item 130293	NM_000023.4(SGCA):c.528C>T (p.Thr176=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Sarcoglycanopathy +3 more	GBenign
Select item 92657	NM_000231.3(SGCG):c.705T>C (p.Leu235=)	SACS, SGCG	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +5 more	GBenign/Likely benign
Select item 92655	NM_000231.3(SGCG):c.347G>A (p.Arg116His)	SGCG (R116H +1 more)	Single nucleotide variant (missense variant)	Sarcoglycanopathy +4 more	GBenign/Likely benign
Select item 92654	NM_000231.3(SGCG):c.312T>G (p.Leu104=)	SGCG	Single nucleotide variant (synonymous variant)	Sarcoglycanopathy +4 more	GBenign
Select item 92653	NM_000231.3(SGCG):c.228T>C (p.Asp76=)	SGCG	Single nucleotide variant (synonymous variant)	Sarcoglycanopathy +4 more	GBenign/Likely benign
Select item 92652	NM_000231.3(SGCG):c.*13C>T	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +5 more	GBenign/Likely benign
Select item 92303	NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)	SGCA (R110W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 9439	NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	SGCA (R284C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenicFDA Recognized database
Select item 9437	NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	SGCA (R77C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenicFDA Recognized database

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Items: 82