C2936332[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371228	NM_000023.4(SGCA):c.-1_9del (p.Met1fs)	SGCA (M1fs)	Deletion (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 550333	NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	SGCA (L31P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 92301	NM_000023.4(SGCA):c.101G>A (p.Arg34His)	SGCA (R34H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 370189	NM_000023.4(SGCA):c.158-2A>G	SGCA	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 555050	NM_000023.4(SGCA):c.220del (p.Arg74fs)	SGCA (R74fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 553486	NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)	SGCA	Deletion (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 551278	NM_000023.4(SGCA):c.285AGA[1] (p.Glu96del)	SGCA (E96del)	Microsatellite (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 549996	NM_000023.4(SGCA):c.290A>G (p.Asp97Gly)	SGCA (D97G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 284708	NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	SGCA (R98C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GPathogenic/Likely pathogenic
Select item 9435	NM_000023.4(SGCA):c.293G>A (p.Arg98His)	SGCA (R98H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GPathogenic/Likely pathogenic
Select item 284685	NM_000023.4(SGCA):c.307A>G (p.Ile103Val)	SGCA (I103V)	Single nucleotide variant (missense variant +1 more)	Sarcoglycanopathy +2 more	GConflicting classifications of pathogenicity
Select item 556014	NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)	SGCA (I103T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GConflicting classifications of pathogenicity
Select item 551197	NM_000023.4(SGCA):c.313_319del (p.Val105Profs)	SGCA	Deletion (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 370642	NM_000023.4(SGCA):c.313-2A>G	SGCA	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 188733	NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	SGCA (I124T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 284945	NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	SGCA (Y134*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285818	NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	SGCA (Q135*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 286049	NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	SGCA (E137K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 555272	NM_000023.4(SGCA):c.464del (p.Ser155fs)	SGCA (S155fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 371273	NM_000023.4(SGCA):c.480_481del (p.Leu161fs)	SGCA (L161fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 370116	NM_000023.4(SGCA):c.488dup (p.Leu164fs)	SGCA (L164fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 290625	NM_000023.4(SGCA):c.489del (p.Leu164fs)	SGCA (L164fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 370112	NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)	SGCA (Q171*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 288595	NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)	SGCA (R181S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 370946	NM_000023.4(SGCA):c.559del (p.Leu187fs)	SGCA (L187fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 370656	NM_000023.4(SGCA):c.580G>T (p.Glu194Ter)	SGCA (E194*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 550424	NM_000023.4(SGCA):c.584+1del	SGCA	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 550629	NM_000023.4(SGCA):c.585-2A>T	SGCA	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 504013	NM_000023.2(SGCA):c.586delG	SGCA	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 423721	NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)	SGCA (P205L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289794	NM_000023.4(SGCA):c.614C>A (p.Pro205His)	SGCA (P205H)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 552864	NM_000023.4(SGCA):c.622A>G (p.Thr208Ala)	SGCA (T208A)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 551091	NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)	SGCA (S215F)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GConflicting classifications of pathogenicity
Select item 452720	NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	SGCA (R221C)	Single nucleotide variant (missense variant +2 more)	not specified +2 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)	Autosomal recessive limb-girdle muscular dystrophy type 2D +3 more	GConflicting classifications of pathogenicity
Select item 554475	NM_000023.4(SGCA):c.718T>G (p.Phe240Val)	SGCA (F240V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 555618	NM_000023.4(SGCA):c.727G>A (p.Asp243Asn)	SGCA (D243N)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 553104	NM_000023.4(SGCA):c.748-2A>T	SGCA	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 371575	NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	SGCA (K252fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 370513	NM_000023.4(SGCA):c.755del (p.Lys252fs)	SGCA (K252fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 556635	NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del)	SGCA (F275del)	Microsatellite (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 370737	NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs)	SGCA (D283fs)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 556734	NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del)	SGCA	Deletion (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 555841	NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)	SGCA (Y310fs)	Deletion (frameshift variant +1 more)	Qualitative or quantitative defects of alpha-sarcoglycan +1 more	GConflicting classifications of pathogenicity
Select item 556209	NM_000023.4(SGCA):c.949G>T (p.Glu317Ter)	SGCA (E317*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 554218	NM_000023.4(SGCA):c.956+2_956+19del	SGCA	Deletion (splice donor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 552157	NM_000023.4(SGCA):c.956+21C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 550601	NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)	SGCA (E352* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 553821	NM_000023.4(SGCA):c.*12+2T>C	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance

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Items: 49