TOMT[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 124

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 3292134	NM_001145308.5(LRTOMT):c.85G>A (p.Ala29Thr)	LRTOMT, TOMT (A29T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1376047	NM_001145308.5(LRTOMT):c.96_109del (p.Thr33fs)	LRTOMT, TOMT (T33fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 227532	NM_001145308.5(LRTOMT):c.117A>G (p.Ala39=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 227533	NM_001145308.5(LRTOMT):c.118T>C (p.Leu40=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1333659	NM_001145308.5(LRTOMT):c.154C>T (p.Arg52Trp)	LRTOMT, TOMT (R19W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1810173	NM_001145308.5(LRTOMT):c.155G>A (p.Arg52Gln)	LRTOMT, TOMT (R19Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2326892	NM_001145308.5(LRTOMT):c.160C>T (p.Arg54Trp)	LRTOMT, TOMT (R54W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1333694	NM_001145308.5(LRTOMT):c.161G>A (p.Arg54Gln)	LRTOMT, TOMT (R21Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 163941	NM_001145308.5(LRTOMT):c.165C>G (p.His55Gln)	LRTOMT, TOMT (H55Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 632174	NM_001145308.5(LRTOMT):c.172C>T (p.Arg58Ter)	LRTOMT, TOMT (R58* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GConflicting classifications of pathogenicity
Select item 1339595	NM_001145308.5(LRTOMT):c.173G>A (p.Arg58Gln)	TOMT, LRTOMT (R25Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433534	NM_001145308.5(LRTOMT):c.179T>C (p.Leu60Pro)	LRTOMT, TOMT (L27P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1990238	NM_001145308.5(LRTOMT):c.184C>T (p.Arg62Cys)	LRTOMT, TOMT (R29C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 227534	NM_001145308.5(LRTOMT):c.188C>T (p.Thr63Met)	LRTOMT, TOMT (T63M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 305990	NM_001145308.5(LRTOMT):c.189G>A (p.Thr63=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
Select item 179867	NM_001145308.5(LRTOMT):c.191T>G (p.Val64Gly)	LRTOMT, TOMT (V64G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 228840	NM_001145308.5(LRTOMT):c.196C>G (p.Leu66Val)	LRTOMT, TOMT (L66V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
Select item 1804950	NM_001145308.5(LRTOMT):c.199C>T (p.Arg67Ter)	LRTOMT, TOMT (R34* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 2241403	NM_001145308.5(LRTOMT):c.200G>A (p.Arg67Gln)	LRTOMT, TOMT (R34Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 505397	NM_001145308.5(LRTOMT):c.204C>T (p.Ser68=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 305991	NM_001145308.5(LRTOMT):c.209G>A (p.Arg70Gln)	LRTOMT, TOMT (R70Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 44038	NM_001145308.5(LRTOMT):c.222A>G (p.Ser74=)	TOMT, LRTOMT	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 1481162	NM_001145308.5(LRTOMT):c.230G>A (p.Arg77Gln)	LRTOMT, TOMT (R44Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 543	NM_001145308.5(LRTOMT):c.242G>A (p.Arg81Gln)	LRTOMT, TOMT (R81Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GPathogenic
Select item 1064902	NM_001145308.5(LRTOMT):c.249C>G (p.Phe83Leu)	LRTOMT, TOMT (F43L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3121251	NM_001145308.5(LRTOMT):c.256G>A (p.Val86Met)	LRTOMT, TOMT (V53M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 505303	NM_001145308.5(LRTOMT):c.266A>G (p.His89Arg)	LRTOMT, TOMT (H89R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1706260	NM_001145308.5(LRTOMT):c.268G>C (p.Ala90Pro)	LRTOMT, TOMT (A50P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305992	NM_001145308.5(LRTOMT):c.276C>T (p.Pro92=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 544	NM_001145308.5(LRTOMT):c.313T>C (p.Trp105Arg)	LRTOMT, TOMT (W105R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 2683157	NM_001145308.5(LRTOMT):c.323G>A (p.Arg108His)	TOMT, LRTOMT (R108H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881770	NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 63	GConflicting classifications of pathogenicity
Select item 545	NM_001145308.5(LRTOMT):c.328G>A (p.Glu110Lys)	LRTOMT, TOMT (E110K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 546	NM_001145308.5(LRTOMT):c.333C>G (p.Tyr111Ter)	LRTOMT, TOMT (Y71* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 1443179	NM_001145308.5(LRTOMT):c.340C>T (p.His114Tyr)	TOMT, LRTOMT (H81Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2535283	NM_001145308.5(LRTOMT):c.344T>C (p.Met115Thr)	LRTOMT, TOMT (M82T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 44039	NM_001145308.5(LRTOMT):c.352G>A (p.Val118Ile)	LRTOMT, TOMT (V118I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 596783	NM_001145308.5(LRTOMT):c.358+1G>A	LRTOMT, TOMT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 179792	NM_001145308.5(LRTOMT):c.358+4A>C	TOMT, LRTOMT	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1198763	NM_001145308.5(LRTOMT):c.358+26C>T	LRTOMT, TOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266045	NM_001145308.5(LRTOMT):c.359-51G>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 882922	NM_001145308.5(LRTOMT):c.373C>T (p.Arg125Trp)	ANAPC15, LRTOMT +1 more (R125W +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1467073	NM_001145308.5(LRTOMT):c.374G>A (p.Arg125Gln)	ANAPC15, LRTOMT +1 more (R125Q +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2662403	NM_001145308.5(LRTOMT):c.380T>C (p.Val127Ala)	LRTOMT, ANAPC15 +1 more (V127A +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1420763	NM_001145308.5(LRTOMT):c.382GAG[1] (p.Glu129del)	TOMT, ANAPC15 +1 more (E129del +2 more)	Microsatellite (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 627450	NM_001145308.5(LRTOMT):c.384_385insCTCG (p.Glu129fs)	ANAPC15, LRTOMT +1 more (E129fs +2 more)	Insertion (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely pathogenic
Select item 1496548	NM_001145308.5(LRTOMT):c.397G>A (p.Ala133Thr)	ANAPC15, LRTOMT +1 more (A93T +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 227535	NM_001145308.5(LRTOMT):c.397G>C (p.Ala133Pro)	ANAPC15, LRTOMT +1 more (A133P +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 3292135	NM_001145308.5(LRTOMT):c.398C>A (p.Ala133Asp)	ANAPC15, LRTOMT +1 more (A133D +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3039904	NM_001145308.5(LRTOMT):c.399T>G (p.Ala133=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related disorder	GLikely benign
Select item 2059616	NM_001145308.5(LRTOMT):c.454G>A (p.Ala152Thr)	ANAPC15, LRTOMT +1 more (A119T +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 305993	NM_001145308.5(LRTOMT):c.459G>A (p.Leu153=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882923	NM_001145308.5(LRTOMT):c.460C>G (p.Pro154Ala)	ANAPC15, LRTOMT +1 more (P114A +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 681161	NM_001145308.5(LRTOMT):c.462C>T (p.Pro154=)	ANAPC15, TOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2683158	NM_001145308.5(LRTOMT):c.463C>G (p.Pro155Ala)	ANAPC15, LRTOMT +1 more (P115A +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3121252	NM_001145308.5(LRTOMT):c.484G>A (p.Val162Met)	ANAPC15, LRTOMT +1 more (V122M +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1298368	NM_001145308.5(LRTOMT):c.499C>T (p.Arg167Cys)	ANAPC15, LRTOMT +1 more (R127C +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2307146	NM_001145308.5(LRTOMT):c.500G>A (p.Arg167His)	ANAPC15, LRTOMT +1 more (R127H +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2122990	NM_001145308.5(LRTOMT):c.503C>G (p.Thr168Arg)	TOMT, ANAPC15 +1 more (T128R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 305994	NM_001145308.5(LRTOMT):c.503C>T (p.Thr168Met)	ANAPC15, LRTOMT +1 more (T168M +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GConflicting classifications of pathogenicity
Select item 513080	NM_001145308.5(LRTOMT):c.537C>T (p.Ala179=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 587638	NM_001145308.5(LRTOMT):c.538G>A (p.Gly180Ser)	ANAPC15, LRTOMT +1 more (G180S +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 3121253	NM_001145308.5(LRTOMT):c.542T>C (p.Phe181Ser)	ANAPC15, LRTOMT +1 more (F148S +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2231898	NM_001145308.5(LRTOMT):c.553A>G (p.Met185Val)	ANAPC15, LRTOMT +1 more (M152V +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1196151	NM_001145308.5(LRTOMT):c.555+122G>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1705515	NM_001145308.5(LRTOMT):c.566del (p.Ile189fs)	ANAPC15, LRTOMT +1 more (I149fs +2 more)	Deletion (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely pathogenic
Select item 794705	NM_001145308.5(LRTOMT):c.567C>T (p.Ile189=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 305995	NM_001145308.5(LRTOMT):c.568G>A (p.Val190Met)	ANAPC15, LRTOMT +1 more (V190M +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305996	NM_001145308.5(LRTOMT):c.585C>T (p.Asp195=)	LRTOMT, TOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GConflicting classifications of pathogenicity
Select item 305997	NM_001145308.5(LRTOMT):c.592C>T (p.Pro198Ser)	LRTOMT, TOMT +1 more (P198S +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 3292133	NM_001145308.5(LRTOMT):c.593C>T (p.Pro198Leu)	ANAPC15, LRTOMT +1 more (P158L +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1218229	NM_001145308.5(LRTOMT):c.594G>A (p.Pro198=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 515920	NM_001145308.5(LRTOMT):c.594G>C (p.Pro198=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 759411	NM_001145308.5(LRTOMT):c.606C>T (p.Thr202=)	TOMT, ANAPC15 +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 208717	NM_001145308.5(LRTOMT):c.614_617dup (p.Ser207fs)	TOMT, ANAPC15 +1 more (S167fs +2 more)	Duplication (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GPathogenic
Select item 44040	NM_001145308.5(LRTOMT):c.623G>A (p.Arg208Gln)	ANAPC15, LRTOMT +1 more (R208Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GBenign
Select item 1366661	NM_001145308.5(LRTOMT):c.630C>A (p.Asp210Glu)	ANAPC15, LRTOMT +1 more (D170E +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 305998	NM_001145308.5(LRTOMT):c.649C>T (p.Arg217Trp)	ANAPC15, LRTOMT +1 more (R217W +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1254140	NM_001145308.5(LRTOMT):c.650G>C (p.Arg217Pro)	ANAPC15, LRTOMT +1 more (R177P +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 883718	NM_001145308.5(LRTOMT):c.650G>A (p.Arg217Gln)	TOMT, ANAPC15 +1 more (R217Q +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1447950	NM_001145308.5(LRTOMT):c.655C>T (p.Arg219Ter)	ANAPC15, LRTOMT +1 more (R219* +2 more)	Single nucleotide variant (nonsense +3 more)	not provided	GUncertain significance
Select item 2109729	NM_001145308.5(LRTOMT):c.656G>A (p.Arg219Gln)	ANAPC15, LRTOMT +1 more (R179Q +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1214038	NM_001145308.5(LRTOMT):c.670G>A (p.Asp224Asn)	LRTOMT, TOMT +1 more (D184N +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 44041	NM_001145308.5(LRTOMT):c.672C>G (p.Asp224Glu)	ANAPC15, LRTOMT +1 more (D224E +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2442643	NM_001145308.5(LRTOMT):c.685G>A (p.Glu229Lys)	ANAPC15, LRTOMT +1 more (E189K +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2293654	NM_001145308.5(LRTOMT):c.688G>C (p.Ala230Pro)	ANAPC15, LRTOMT +1 more (A190P +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1923104	NM_001145308.5(LRTOMT):c.692A>G (p.His231Arg)	ANAPC15, LRTOMT +1 more (H231R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 179218	NM_001145308.5(LRTOMT):c.695C>T (p.Ala232Val)	ANAPC15, LRTOMT +1 more (A232V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2642118	NM_001145308.5(LRTOMT):c.708A>G (p.Ala236=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1394941	NM_001145308.5(LRTOMT):c.718G>A (p.Val240Met)	ANAPC15, LRTOMT +1 more (V207M +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 228839	NM_001145308.5(LRTOMT):c.729C>G (p.Asp243Glu)	LRTOMT, ANAPC15 +1 more (D243E +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1346332	NM_001145308.5(LRTOMT):c.736C>A (p.Leu246Ile)	ANAPC15, LRTOMT +1 more (L206I +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2398672	NM_001145308.5(LRTOMT):c.749C>T (p.Ala250Val)	ANAPC15, LRTOMT +1 more (A210V +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1433458	NM_001145308.5(LRTOMT):c.751C>T (p.Pro251Ser)	ANAPC15, LRTOMT +1 more (P218S +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 883719	NM_001145308.5(LRTOMT):c.754C>T (p.Arg252Cys)	LRTOMT, ANAPC15 +1 more (R212C +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1300473	NM_001145308.5(LRTOMT):c.756C>T (p.Arg252=)	ANAPC15, TOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 305999	NM_001145308.5(LRTOMT):c.780T>G (p.Cys260Trp)	ANAPC15, LRTOMT +1 more (C260W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance

<< First< Prev

Page of 2