"Revvity Omics, Revvity"[submitter] AND "SGCA"[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1443684	NM_000023.4(SGCA):c.13C>G (p.Leu5Val)	SGCA (L5V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 2196470	NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)	SGCA (L10F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 286013	NM_000023.4(SGCA):c.34G>A (p.Val12Met)	SGCA (V12M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1066846	NM_000023.4(SGCA):c.37+1G>C	SGCA	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 449763	NM_000023.4(SGCA):c.37+3A>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 281148	NM_000023.4(SGCA):c.37+6T>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 594619	NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)	SGCA (D20Y)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 254720	NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)	SGCA (T21I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GConflicting classifications of pathogenicity
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 217250	NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	SGCA (R34C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	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 811177	NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)	SGCA (T39A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1037106	NM_000023.4(SGCA):c.131C>T (p.Thr44Met)	SGCA (T44M)	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 281859	NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)	SGCA (A53T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GConflicting classifications of pathogenicity
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 497667	NM_000023.4(SGCA):c.172G>C (p.Val58Leu)	SGCA (V58L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 291210	NM_000023.4(SGCA):c.183dup (p.Tyr62fs)	SGCA (Y62fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
Select item 582221	NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)	SGCA (Y62*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 290930	NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	SGCA (A64T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 286025	NM_000023.4(SGCA):c.197T>A (p.Leu66His)	SGCA (L66H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 1386581	NM_000023.4(SGCA):c.199C>G (p.Gln67Glu)	SGCA (Q67E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
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 188811	NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)	SGCA (R74W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic/Likely pathogenic
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 +4 more	GPathogenic
Select item 92302	NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)	SGCA (R81C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 597056	NM_000023.4(SGCA):c.242G>A (p.Arg81His)	SGCA (R81H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 538661	NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)	SGCA (G91C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GConflicting classifications of pathogenicity
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 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 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 2058671	NM_000023.4(SGCA):c.319G>A (p.Ala107Thr)	SGCA (A107T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 197094	NM_000023.4(SGCA):c.320C>T (p.Ala107Val)	SGCA (A107V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 497103	NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)	SGCA (N109fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92303	NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)	SGCA (R110W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 754910	NM_000023.4(SGCA):c.354G>A (p.Gln118=)	SGCA	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GConflicting classifications of pathogenicity
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 952755	NM_000023.4(SGCA):c.376G>A (p.Asp126Asn)	SGCA (D126N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
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 554420	NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	SGCA (E137Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 546801	NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)	SGCA (D144N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 2379719	NM_000023.4(SGCA):c.466C>A (p.Arg156Ser)	SGCA (R156S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 1679115	NM_000023.4(SGCA):c.467G>A (p.Arg156His)	SGCA (R156H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 281027	NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	SGCA (L173P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 597557	NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)	SGCA (R181C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GUncertain significance
Select item 2420115	NM_000023.4(SGCA):c.542G>A (p.Arg181His)	SGCA (R181H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
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 37202	NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)	SGCA (R192*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 501744	NM_000023.4(SGCA):c.582A>C (p.Glu194Asp)	SGCA (E194D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
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 497672	NM_000023.4(SGCA):c.585-1G>A	SGCA	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 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 497670	NM_000023.4(SGCA):c.662G>C (p.Arg221Pro)	SGCA (R221P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 198033	NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)	SGCA (P227R)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +3 more	GConflicting classifications of pathogenicity
Select item 198031	NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)	SGCA (D234N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1928226	NM_000023.4(SGCA):c.722G>A (p.Arg241His)	SGCA (R241H)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 497383	NM_000023.4(SGCA):c.724G>A (p.Val242Ile)	SGCA (V242I)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 471337	NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	SGCA (V242F)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic/Likely pathogenic
Select item 284388	NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)	SGCA (N246S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 167677	NM_000023.4(SGCA):c.739G>A (p.Val247Met)	SGCA (V247M)	Single nucleotide variant (missense variant +2 more)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 284053	NM_000023.4(SGCA):c.748-10C>A	SGCA	Single nucleotide variant (intron variant)	not provided +1 more	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 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 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 972430	NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)	SGCA (R284G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	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 type 2D +4 more	GPathogenic/Likely pathogenic
Select item 1323585	NM_000023.4(SGCA):c.904del (p.Leu302fs)	SGCA (L302fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GPathogenic
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 978048	NM_000023.4(SGCA):c.957-11C>G	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
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 282864	NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)	SGCA (G339R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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)	Sarcoglycanopathy +2 more	GUncertain significance
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 500012	NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn)	SGCA (T359N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GUncertain significance
Select item 497816	NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp)	SGCA (R370W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 285630	NM_000023.4(SGCA):c.1121G>A (p.Arg374His)	SGCA (R374H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 290522	NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)	SGCA (A378T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 85