"Eurofins Ntd Llc (ga)"[submitter] AND "SGCA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288271	NM_000023.4(SGCA):c.-8G>A	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy +3 more	GBenign
Select item 324040	NM_000023.4(SGCA):c.-5C>G	SGCA	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy +2 more	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 501790	NM_000023.4(SGCA):c.37+2C>G	SGCA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 596004	NM_000023.4(SGCA):c.37+10G>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 496854	NM_000023.4(SGCA):c.38-46G>C	SGCA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 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 498950	NM_000023.4(SGCA):c.85C>T (p.His29Tyr)	SGCA (H29Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 285929	NM_000023.4(SGCA):c.89C>T (p.Pro30Leu)	SGCA (P30L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
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 593205	NM_000023.4(SGCA):c.111G>A (p.Val37=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 593203	NM_000023.4(SGCA):c.115_116insT (p.Thr39fs)	SGCA (T39fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 288901	NM_000023.4(SGCA):c.132G>A (p.Thr44=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 281286	NM_000023.4(SGCA):c.155T>G (p.Val52Gly)	SGCA (V52G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 290641	NM_000023.4(SGCA):c.161del (p.Val54fs)	SGCA (V54fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 497173	NM_000023.4(SGCA):c.168del (p.Ala57fs)	SGCA (A57fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic
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 497842	NM_000023.4(SGCA):c.189C>T (p.His63=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GConflicting classifications of pathogenicity
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 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 594552	NM_000023.4(SGCA):c.203del (p.Gly68fs)	SGCA (G68fs)	Deletion (frameshift 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 196199	NM_000023.4(SGCA):c.230G>A (p.Arg77His)	SGCA (R77H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
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 289891	NM_000023.4(SGCA):c.270C>T (p.Tyr90=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290496	NM_000023.4(SGCA):c.272G>A (p.Gly91Asp)	SGCA (G91D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 283227	NM_000023.4(SGCA):c.293G>C (p.Arg98Pro)	SGCA (R98P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 290254	NM_000023.4(SGCA):c.312G>A (p.Glu104=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 500172	NM_000023.4(SGCA):c.312+6G>A	SGCA	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 197095	NM_000023.4(SGCA):c.313-10C>T	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 597055	NM_000023.4(SGCA):c.317_318del (p.Thr106fs)	SGCA (T106fs)	Microsatellite (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic
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 497191	NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)	SGCA (R110Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 283118	NM_000023.4(SGCA):c.350G>A (p.Arg117Gln)	SGCA (R117Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 282191	NM_000023.4(SGCA):c.359T>G (p.Leu120Arg)	SGCA (L120R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 595112	NM_000023.4(SGCA):c.364C>G (p.Leu122Val)	SGCA (L122V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497073	NM_000023.4(SGCA):c.366G>A (p.Leu122=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	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 283716	NM_000023.4(SGCA):c.385G>A (p.Gly129Ser)	SGCA (G129S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 285226	NM_000023.4(SGCA):c.402C>T (p.Tyr134=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 287947	NM_000023.4(SGCA):c.408C>T (p.Ala136=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 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 283111	NM_000023.4(SGCA):c.450C>T (p.Pro150=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 285897	NM_000023.4(SGCA):c.468C>T (p.Arg156=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 499945	NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp)	SGCA	Indel (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
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 498275	NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)	SGCA (G168R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GConflicting classifications of pathogenicity
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 280105	NM_000023.4(SGCA):c.530del (p.Ser177fs)	SGCA (S177fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GPathogenic
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 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 289773	NM_000023.4(SGCA):c.555C>A (p.Val185=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290211	NM_000023.4(SGCA):c.559C>T (p.Leu187Phe)	SGCA (L187F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 596258	NM_000023.4(SGCA):c.585-8G>A	SGCA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 285980	NM_000023.4(SGCA):c.586G>A (p.Val196Ile)	SGCA (V196I)	Single nucleotide variant (missense variant +2 more)	not provided +1 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 285736	NM_000023.4(SGCA):c.623C>T (p.Thr208Ile)	SGCA (T208I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 498598	NM_000023.4(SGCA):c.626G>A (p.Cys209Tyr)	SGCA (C209Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 595231	NM_000023.4(SGCA):c.650A>G (p.Asp217Gly)	SGCA (D217G)	Single nucleotide variant (missense variant +2 more)	not provided	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 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 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 290718	NM_000023.4(SGCA):c.674G>A (p.Gly225Asp)	SGCA (G225D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 597232	NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)	SGCA (Q226*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
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 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 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 92304	NM_000023.4(SGCA):c.716A>G (p.His239Arg)	SGCA (H239R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 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 286436	NM_000023.4(SGCA):c.747+1G>A	SGCA	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 198383	NM_000023.4(SGCA):c.748-3C>T	SGCA	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 500930	NM_000023.4(SGCA):c.766G>A (p.Glu256Lys)	SGCA (E256K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 288637	NM_000023.4(SGCA):c.770del (p.Pro257fs)	SGCA (P257fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GPathogenic
Select item 198382	NM_000023.4(SGCA):c.789C>A (p.Thr263=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 288821	NM_000023.4(SGCA):c.811C>T (p.His271Tyr)	SGCA (H271Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 281388	NM_000023.4(SGCA):c.819G>T (p.Pro273=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GConflicting classifications of pathogenicity
Select item 282454	NM_000023.4(SGCA):c.843C>A (p.Ala281=)	SGCA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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