SIGMAR1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 643550	NM_005866.4(SIGMAR1):c.*51G>T	SIGMAR1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 431074	NM_005866.4(SIGMAR1):c.446-25_*40del	SIGMAR1	Deletion (splice acceptor variant)	Amyotrophic lateral sclerosis type 16	GLikely pathogenic
Select item 208122	NM_005866.4(SIGMAR1):c.*31A>G	SIGMAR1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +2 more	GBenign
Select item 1338902	NM_005866.4(SIGMAR1):c.*27G>A	SIGMAR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2041690	NM_005866.4(SIGMAR1):c.660C>T (p.Gly220=)	SIGMAR1	Single nucleotide variant (3 prime UTR variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1489956	NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs)	SIGMAR1 (F199fs +3 more)	Deletion (frameshift variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 937430	NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe)	SIGMAR1 (L187F +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 1539988	NM_005866.4(SIGMAR1):c.639G>A (p.Glu213=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +2 more	GLikely benign
Select item 1699407	NM_005866.4(SIGMAR1):c.637G>A (p.Glu213Lys)	SIGMAR1 (E113K +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16	GLikely pathogenic
Select item 573115	NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln)	SIGMAR1 (R211Q +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1054779	NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp)	SIGMAR1 (R111W +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 729840	NM_005866.4(SIGMAR1):c.627C>A (p.Gly209=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2683036	NM_005866.4(SIGMAR1):c.626G>A (p.Gly209Asp)	SIGMAR1 (G109D +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1721594	NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)	SIGMAR1 (R108P +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 569077	NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln)	SIGMAR1 (R208Q +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 465871	NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp)	SIGMAR1 (R208W +3 more)	Single nucleotide variant (missense variant +3 more)	not specified +3 more	GBenign/Likely benign
Select item 2938608	NM_005866.4(SIGMAR1):c.618T>C (p.Tyr206=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1752035	NM_005866.4(SIGMAR1):c.617A>C (p.Tyr206Ser)	SIGMAR1 (Y106S +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 939656	NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe)	SIGMAR1 (S174F +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1803430	NM_005866.4(SIGMAR1):c.605C>T (p.Thr202Ile)	SIGMAR1 (T102I +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2931751	NM_005866.4(SIGMAR1):c.600C>T (p.Phe200=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 655091	NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe)	SIGMAR1 (L99F +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +2 more	GUncertain significance
Select item 431075	NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs)	SIGMAR1 (D168fs +3 more)	Deletion (frameshift variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1358395	NM_005866.4(SIGMAR1):c.575G>A (p.Ser192Asn)	SIGMAR1 (S161N +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 2198835	NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)	SIGMAR1 (F91L +3 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 2137144	NM_005866.4(SIGMAR1):c.567T>C (p.Thr189=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2029202	NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)	SIGMAR1 (D168N +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1396672	NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del)	SIGMAR1	Deletion (inframe_deletion +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1375627	NM_005866.4(SIGMAR1):c.554C>T (p.Ala185Val)	SIGMAR1 (A154V +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +2 more	GUncertain significance
Select item 1017093	NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro)	SIGMAR1 (A154P +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 836890	NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr)	SIGMAR1 (A165T +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 465870	NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +2 more	GBenign
Select item 2949085	NM_005866.4(SIGMAR1):c.546G>A (p.Leu182=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 448379	NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro)	SIGMAR1 (L182P +3 more)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GUncertain significance
Select item 1155997	NM_005866.4(SIGMAR1):c.543C>T (p.Thr181=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2010511	NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala)	SIGMAR1 (V177A +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 659848	NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile)	SIGMAR1 (V177I +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +2 more	GUncertain significance
Select item 1106268	NM_005866.4(SIGMAR1):c.528C>T (p.Gly176=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2139444	NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln)	SIGMAR1 (R155Q +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1385758	NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp)	SIGMAR1 (R175W +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 1746098	NM_005866.4(SIGMAR1):c.520G>A (p.Gly174Ser)	SIGMAR1 (G174S +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1132342	NM_005866.4(SIGMAR1):c.519C>T (p.Tyr173=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1040142	NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu)	SIGMAR1 (V140L +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 1387350	NM_005866.4(SIGMAR1):c.510G>A (p.Met170Ile)	SIGMAR1 (M170I +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1516369	NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser)	SIGMAR1 (P135S +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1067324	NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter)	SIGMAR1 (W133* +3 more)	Single nucleotide variant (nonsense +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GPathogenic
Select item 1403331	NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp)	SIGMAR1 (A61D +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 851297	NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val)	SIGMAR1 (A128V +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 2938415	NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)	SIGMAR1 (V153fs +4 more)	Deletion (frameshift variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GPathogenic
Select item 1400335	NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala)	SIGMAR1 (G137A +4 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 843288	NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp)	SIGMAR1 (R108L +4 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +2 more	GUncertain significance
Select item 465869	NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg)	SIGMAR1 (G155R +4 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +3 more	GConflicting classifications of pathogenicity
Select item 2141014	NM_005866.4(SIGMAR1):c.462C>T (p.His154=)	SIGMAR1 (R108W)	Single nucleotide variant (synonymous variant +4 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1094020	NM_005866.4(SIGMAR1):c.456A>G (p.Val152=)	SIGMAR1 (S106G)	Single nucleotide variant (synonymous variant +4 more)	SIGMAR1-related disorder +2 more	GLikely benign
Select item 534264	NM_005866.4(SIGMAR1):c.453G>A (p.Thr151=)	SIGMAR1 (R159Q +1 more)	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1417748	NM_005866.4(SIGMAR1):c.452C>T (p.Thr151Met)	SIGMAR1 (T151M +4 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +2 more	GUncertain significance
Select item 873317	NM_005866.4(SIGMAR1):c.451A>G (p.Thr151Ala)	SIGMAR1 (T51A +4 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16	GLikely pathogenic
Select item 873316	NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys)	SIGMAR1 (E130K +4 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely pathogenic
Select item 2585481	NM_005866.4(SIGMAR1):c.446G>A (p.Gly149Glu)	SIGMAR1 (G118E +4 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2	GUncertain significance
Select item 578578	NM_005866.4(SIGMAR1):c.446-5C>G	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2046606	NM_005866.4(SIGMAR1):c.446-7C>G	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1150142	NM_005866.4(SIGMAR1):c.446-10T>C	SIGMAR1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1995967	NM_005866.4(SIGMAR1):c.446-16G>A	SIGMAR1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1665318	NM_005866.4(SIGMAR1):c.446-19G>A	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1255161	NM_005866.4(SIGMAR1):c.446-44C>G	SIGMAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247837	NM_005866.4(SIGMAR1):c.446-257G>A	SIGMAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268170	NM_005866.4(SIGMAR1):c.445+171C>G	SIGMAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1909294	NM_005866.4(SIGMAR1):c.445+17T>A	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1968935	NM_005866.4(SIGMAR1):c.445+14C>T	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1547402	NM_005866.4(SIGMAR1):c.445+13G>A	SIGMAR1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 733354	NM_005866.4(SIGMAR1):c.445+7A>G	SIGMAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 522651	NM_005866.4(SIGMAR1):c.416G>T (p.Gly139Val)	SIGMAR1 (G139V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2585560	NM_005866.4(SIGMAR1):c.391G>A (p.Gly131Ser)	SIGMAR1 (G131S +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2	GUncertain significance
Select item 2317858	NM_005866.4(SIGMAR1):c.380C>T (p.Thr127Ile)	SIGMAR1 (P135S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1592534	NM_005866.4(SIGMAR1):c.375G>T (p.Ser125=)	SIGMAR1 (R133L)	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2945263	NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)	SIGMAR1 (S105* +2 more)	Single nucleotide variant (nonsense +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GPathogenic
Select item 1619686	NM_005866.4(SIGMAR1):c.372C>T (p.Ile124=)	SIGMAR1 (S132F)	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1613812	NM_005866.4(SIGMAR1):c.369G>A (p.Glu123=)	SIGMAR1 (R131K)	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 767353	NM_005866.4(SIGMAR1):c.366T>C (p.Ala122=)	SIGMAR1 (L130P)	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 954244	NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys)	SIGMAR1 (T128A +3 more)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 2196903	NM_005866.4(SIGMAR1):c.356G>A (p.Arg119His)	SIGMAR1 (A127T +3 more)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 1963977	NM_005866.4(SIGMAR1):c.353-9G>C	SIGMAR1 (V123L)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1542041	NM_005866.4(SIGMAR1):c.353-13G>A	SIGMAR1	Single nucleotide variant (intron variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1895699	NM_005866.4(SIGMAR1):c.352+16G>C	SIGMAR1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2086945	NM_005866.4(SIGMAR1):c.352+12C>T	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1576047	NM_005866.4(SIGMAR1):c.352+10A>G	SIGMAR1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2185931	NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=)	SIGMAR1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1550069	NM_005866.4(SIGMAR1):c.348C>T (p.His116=)	SIGMAR1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 534263	NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val)	SIGMAR1 (G115V +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 534266	NM_005866.4(SIGMAR1):c.339C>T (p.Ser113=)	SIGMAR1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 16 +2 more	GLikely benign
Select item 1341340	NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys)	SIGMAR1 (S113C +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 1080902	NM_005866.4(SIGMAR1):c.331T>C (p.Leu111=)	SIGMAR1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1951576	NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala)	SIGMAR1 (V104A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 2927952	NM_005866.4(SIGMAR1):c.309T>C (p.Tyr103=)	SIGMAR1	Single nucleotide variant (intron variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2132275	NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys)	SIGMAR1 (Y103C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 30238	NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)	SIGMAR1 (E102Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 534265	NM_005866.4(SIGMAR1):c.303C>T (p.Ser101=)	SIGMAR1 (P17L)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1161654	NM_005866.4(SIGMAR1):c.300G>A (p.Leu100=)	SIGMAR1 (C16Y)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 568833	NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val)	SIGMAR1 (L100V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +2 more	GUncertain significance
Select item 2179663	NM_005866.4(SIGMAR1):c.297G>T (p.Ser99=)	SIGMAR1 (R15L)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign

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