ClinVar for MedGen (Select 344189) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2951129	NM_005866.4(SIGMAR1):c.151+16G>C	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2949085	NM_005866.4(SIGMAR1):c.546G>A (p.Leu182=)	SIGMAR1	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)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GPathogenic
Select item 2938608	NM_005866.4(SIGMAR1):c.618T>C (p.Tyr206=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2938415	NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)	SIGMAR1 (V153fs +4 more)	Deletion (frameshift variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GPathogenic
Select item 2936407	NM_005866.4(SIGMAR1):c.151+16G>A	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2931751	NM_005866.4(SIGMAR1):c.600C>T (p.Phe200=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2931373	NM_005866.4(SIGMAR1):c.255T>C (p.Asn85=)	SIGMAR1 (M1T)	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2931372	NM_005866.4(SIGMAR1):c.261T>A (p.Gly87=)	SIGMAR1 (V3E)	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2929237	NM_005866.4(SIGMAR1):c.63G>A (p.Val21=)	LOC130001681, SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2927952	NM_005866.4(SIGMAR1):c.309T>C (p.Tyr103=)	SIGMAR1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2924950	NM_005866.4(SIGMAR1):c.171C>T (p.Ala57=)	SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2922020	NM_005866.4(SIGMAR1):c.207C>T (p.His69=)	SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
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 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 2198835	NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)	SIGMAR1 (F91L +3 more)	Single nucleotide variant (missense variant +3 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 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 2179663	NM_005866.4(SIGMAR1):c.297G>T (p.Ser99=)	SIGMAR1 (R15L)	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2179027	NM_005866.4(SIGMAR1):c.153G>T (p.Gly51=)	SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 2159081	NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala)	SIGMAR1 (V53A +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 2141014	NM_005866.4(SIGMAR1):c.462C>T (p.His154=)	SIGMAR1 (R108W)	Single nucleotide variant (synonymous variant +4 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 (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 2137144	NM_005866.4(SIGMAR1):c.567T>C (p.Thr189=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 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 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 2083521	NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)	LOC130001681, SIGMAR1 (I42fs)	Deletion (frameshift variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GPathogenic
Select item 2079132	NM_005866.4(SIGMAR1):c.84C>T (p.Leu28=)	LOC130001681, SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2072383	NM_005866.4(SIGMAR1):c.48G>A (p.Leu16=)	LOC130001681, SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2058669	NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser)	SIGMAR1 (A98S +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
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 2041690	NM_005866.4(SIGMAR1):c.660C>T (p.Gly220=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 2031541	NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala)	SIGMAR1 (G51A +1 more)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 2030549	NM_005866.4(SIGMAR1):c.152-16C>T	SIGMAR1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 16 +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)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 2013663	NM_005866.4(SIGMAR1):c.151+19G>A	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +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 2008789	NM_005866.4(SIGMAR1):c.130C>G (p.Gln44Glu)	LOC130001681, SIGMAR1 (Q44E)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 2007511	NM_005866.4(SIGMAR1):c.56C>T (p.Ala19Val)	LOC130001681, SIGMAR1 (A19V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1995967	NM_005866.4(SIGMAR1):c.446-16G>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)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1963977	NM_005866.4(SIGMAR1):c.353-9G>C	SIGMAR1 (V123L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1957412	NM_005866.4(SIGMAR1):c.291C>T (p.His97=)	SIGMAR1 (T13M)	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 1928972	NM_005866.4(SIGMAR1):c.198G>C (p.Arg66=)	SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1909294	NM_005866.4(SIGMAR1):c.445+17T>A	SIGMAR1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1897559	NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del)	SIGMAR1 (F38del +1 more)	Deletion (inframe_deletion +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1895699	NM_005866.4(SIGMAR1):c.352+16G>C	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1721594	NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)	SIGMAR1 (R108P +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
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 1660333	NM_005866.4(SIGMAR1):c.45C>G (p.Leu15=)	LOC130001681, SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
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 1617308	NM_005866.4(SIGMAR1):c.202C>T (p.Leu68=)	SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +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 1608786	NM_005866.4(SIGMAR1):c.151+15G>A	SIGMAR1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 16 +1 more	GBenign
Select item 1594681	NM_005866.4(SIGMAR1):c.18C>T (p.Gly6=)	LOC130001681, SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
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 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 1550069	NM_005866.4(SIGMAR1):c.348C>T (p.His116=)	SIGMAR1	Single nucleotide variant (synonymous variant +1 more)	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)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1542041	NM_005866.4(SIGMAR1):c.353-13G>A	SIGMAR1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1539988	NM_005866.4(SIGMAR1):c.639G>A (p.Glu213=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +2 more	GLikely benign
Select item 1516369	NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser)	SIGMAR1 (P135S +3 more)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 1495494	NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu)	SIGMAR1 (G51E +1 more)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 1489956	NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs)	SIGMAR1 (F199fs +3 more)	Deletion (frameshift variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1481294	NM_005866.4(SIGMAR1):c.106G>C (p.Val36Leu)	LOC130001681, SIGMAR1 (V36L)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1454893	NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter)	LOC130001681, SIGMAR1 (W29*)	Single nucleotide variant (nonsense +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GPathogenic
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 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 1400529	NM_005866.4(SIGMAR1):c.124A>G (p.Ile42Val)	LOC130001681, SIGMAR1 (I42V)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
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 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 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 1385758	NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp)	SIGMAR1 (R175W +3 more)	Single nucleotide variant (missense variant +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)	Autosomal recessive distal spinal muscular atrophy 2 +2 more	GUncertain significance
Select item 1360343	NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg)	SIGMAR1 (P70R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
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 1341340	NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys)	SIGMAR1 (S113C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1165217	NC_000009.12:g.34637993_34637994delinsAA	LOC130001681, SIGMAR1	Indel	Amyotrophic lateral sclerosis type 16 +1 more	GBenign
Select item 1164341	NC_000009.12:g.34638237A>T	SIGMAR1	Single nucleotide variant	Amyotrophic lateral sclerosis type 16 +1 more	GBenign
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 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 1152503	NM_005866.4(SIGMAR1):c.152-4C>A	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 1138631	NM_005866.4(SIGMAR1):c.152-6C>T	SIGMAR1	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1132342	NM_005866.4(SIGMAR1):c.519C>T (p.Tyr173=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1129675	NM_005866.4(SIGMAR1):c.237G>T (p.Leu79=)	SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1106268	NM_005866.4(SIGMAR1):c.528C>T (p.Gly176=)	SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1103177	NM_005866.4(SIGMAR1):c.39G>C (p.Ala13=)	LOC130001681, SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
Select item 1096354	NM_005866.4(SIGMAR1):c.30G>T (p.Ala10=)	LOC130001681, SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +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)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1086861	NM_005866.4(SIGMAR1):c.147C>T (p.Tyr49=)	LOC130001681, SIGMAR1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely benign
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 1079509	NM_005866.4(SIGMAR1):c.177T>G (p.Ser59=)	SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 16 +1 more	GLikely benign
Select item 1067640	NM_005866.4(SIGMAR1):c.152-2A>T	SIGMAR1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GLikely pathogenic
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 1058624	NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys)	LOC130001681, SIGMAR1 (E40K)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1054779	NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp)	SIGMAR1 (R111W +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 1042271	NC_000009.11:g.(?_34458994)_(35072710_?)dup	ARID3C, CCL19 +15 more	Duplication	Autosomal recessive distal spinal muscular atrophy 2 +3 more	GUncertain significance
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

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