ClinVar for Gene (Select 25906) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039904	NM_001393500.2(TOMT):c.300T>G (p.Ala100=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related condition	GLikely benign
Select item 2798560	NM_001393500.2(TOMT):c.744A>G (p.Gly248=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2683158	NM_001393500.2(TOMT):c.364C>G (p.Pro122Ala)	ANAPC15, LRTOMT +1 more (P115A +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2662403	NM_001393500.2(TOMT):c.281T>C (p.Val94Ala)	ANAPC15, LRTOMT +1 more (V127A +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2642118	NM_001393500.2(TOMT):c.609A>G (p.Ala203=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2524731	NM_014042.3(ANAPC15):c.213A>T (p.Glu71Asp)	ANAPC15, LRTOMT (E83D +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2442643	NM_001393500.2(TOMT):c.586G>A (p.Glu196Lys)	TOMT, ANAPC15 +1 more (E189K +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2398672	NM_001393500.2(TOMT):c.650C>T (p.Ala217Val)	ANAPC15, LRTOMT +1 more (A210V +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2393789	NM_001393500.2(TOMT):c.686G>A (p.Arg229His)	ANAPC15, LRTOMT +1 more (R222H +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2356334	NM_014042.3(ANAPC15):c.227G>C (p.Ser76Thr)	LRTOMT, ANAPC15 (S76T +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2310828	NM_014042.3(ANAPC15):c.161T>C (p.Ile54Thr)	ANAPC15, LRTOMT (I54T)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2307146	NM_001393500.2(TOMT):c.401G>A (p.Arg134His)	ANAPC15, LRTOMT +1 more (R127H +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2293654	NM_001393500.2(TOMT):c.589G>C (p.Ala197Pro)	ANAPC15, LRTOMT +1 more (A190P +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2276168	NM_001393500.2(TOMT):c.691C>T (p.Arg231Cys)	ANAPC15, LRTOMT +1 more (R224C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2231898	NM_001393500.2(TOMT):c.454A>G (p.Met152Val)	ANAPC15, LRTOMT +1 more (M152V +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2122990	NM_001393500.2(TOMT):c.404C>G (p.Thr135Arg)	ANAPC15, LRTOMT +1 more (T128R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2109729	NM_001393500.2(TOMT):c.557G>A (p.Arg186Gln)	ANAPC15, LRTOMT +1 more (R179Q +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2059616	NM_001393500.2(TOMT):c.355G>A (p.Ala119Thr)	ANAPC15, LRTOMT +1 more (A119T +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1923104	NM_001393500.2(TOMT):c.593A>G (p.His198Arg)	ANAPC15, LRTOMT +1 more (H231R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1808063	GRCh37/hg19 11q13.4(chr11:71777538-72144933)x3	ANAPC15, CLPB +8 more	Copy number gain	not provided	GUncertain significance
Select item 1705515	NM_001393500.2(TOMT):c.467del (p.Ile156fs)	ANAPC15, LRTOMT +1 more (I149fs +2 more)	Deletion (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1670178	NM_001393500.2(TOMT):c.762T>C (p.Tyr254=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +1 more)	LRTOMT-related condition +1 more	GLikely benign
Select item 1527647	GRCh37/hg19 11q13.4(chr11:71567724-72488649)	ANAPC15, ARAP1 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1496548	NM_001393500.2(TOMT):c.298G>A (p.Ala100Thr)	ANAPC15, LRTOMT +1 more (A93T +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1467073	NM_001393500.2(TOMT):c.275G>A (p.Arg92Gln)	ANAPC15, LRTOMT +1 more (R125Q +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1447950	NM_001393500.2(TOMT):c.556C>T (p.Arg186Ter)	TOMT, ANAPC15 +1 more (R219* +2 more)	Single nucleotide variant (nonsense +3 more)	not provided	GUncertain significance
Select item 1433458	NM_001393500.2(TOMT):c.652C>T (p.Pro218Ser)	ANAPC15, LRTOMT +1 more (P218S +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1420763	NM_001393500.2(TOMT):c.283GAG[1] (p.Glu96del)	LRTOMT, TOMT +1 more (E129del +2 more)	Microsatellite (inframe_deletion +3 more)	not provided	GUncertain significance
Select item 1394941	NM_001393500.2(TOMT):c.619G>A (p.Val207Met)	ANAPC15, LRTOMT +1 more (V207M +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1366661	NM_001393500.2(TOMT):c.531C>A (p.Asp177Glu)	ANAPC15, LRTOMT +1 more (D170E +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1346332	NM_001393500.2(TOMT):c.637C>A (p.Leu213Ile)	ANAPC15, LRTOMT +1 more (L206I +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1328739	NM_001393500.2(TOMT):c.697C>T (p.Arg233Cys)	ANAPC15, LRTOMT +1 more (G117S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1300473	NM_001393500.2(TOMT):c.657C>T (p.Arg219=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 1298368	NM_001393500.2(TOMT):c.400C>T (p.Arg134Cys)	ANAPC15, LRTOMT +1 more (R127C +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
Select item 1266045	NM_001393500.2(TOMT):c.260-51G>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1254140	NM_001393500.2(TOMT):c.551G>C (p.Arg184Pro)	ANAPC15, LRTOMT +1 more (R177P +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1218229	NM_001393500.2(TOMT):c.495G>A (p.Pro165=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1214038	NM_001393500.2(TOMT):c.571G>A (p.Asp191Asn)	ANAPC15, LRTOMT +1 more (D184N +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1196151	NM_001393500.2(TOMT):c.456+122G>A	TOMT, ANAPC15 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 883772	NM_014042.3(ANAPC15):c.256A>T (p.Met86Leu)	ANAPC15, LRTOMT (M86L +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 883719	NM_001393500.2(TOMT):c.655C>T (p.Arg219Cys)	ANAPC15, LRTOMT +1 more (R212C +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 883718	NM_001393500.2(TOMT):c.551G>A (p.Arg184Gln)	TOMT, ANAPC15 +1 more (R217Q +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 882977	NM_014042.3(ANAPC15):c.*96C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882976	NM_014042.3(ANAPC15):c.*105C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882975	NM_001393500.2(TOMT):c.*638C>T	TOMT, ANAPC15 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882974	NM_001393500.2(TOMT):c.*580C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882923	NM_001393500.2(TOMT):c.361C>G (p.Pro121Ala)	LRTOMT, TOMT +1 more (P114A +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882922	NM_001393500.2(TOMT):c.274C>T (p.Arg92Trp)	ANAPC15, LRTOMT +1 more (R125W +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
Select item 881824	NM_001393500.2(TOMT):c.*400C>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881435	NM_014042.3(ANAPC15):c.180+11C>G	LRTOMT, ANAPC15	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881434	NM_014042.3(ANAPC15):c.180+75T>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881433	NM_014042.3(ANAPC15):c.180+131A>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881379	NM_001393500.2(TOMT):c.*244C>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881378	NM_001393500.2(TOMT):c.*205C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 830767	NC_000011.9:g.(?_71146401)_(71907241_?)dup	ANAPC15, DEFB108B +16 more	Duplication	Cerebral folate transport deficiency	GUncertain significance
Select item 794705	NM_001393500.2(TOMT):c.468C>T (p.Ile156=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 759411	NM_001393500.2(TOMT):c.507C>T (p.Thr169=)	TOMT, ANAPC15 +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 681161	NM_001393500.2(TOMT):c.363C>T (p.Pro121=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 627450	NM_001393500.2(TOMT):c.285_286insCTCG (p.Glu96fs)	ANAPC15, LRTOMT +1 more (E129fs +2 more)	Insertion (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely pathogenic
Select item 587638	NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser)	ANAPC15, LRTOMT +1 more (G180S +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 515920	NM_001393500.2(TOMT):c.495G>C (p.Pro165=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 513080	NM_001393500.2(TOMT):c.438C>T (p.Ala146=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 430723	Multiple alleles			Autosomal recessive nonsyndromic hearing loss 63	GLikely pathogenic
Select item 306021	NM_014042.3(ANAPC15):c.121-132T>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306020	NM_014042.3(ANAPC15):c.121-110G>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306019	NM_014042.3(ANAPC15):c.121-95G>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306018	NM_014042.3(ANAPC15):c.180+38G>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 306017	NM_014042.3(ANAPC15):c.181-96dup	ANAPC15, LRTOMT	Duplication (3 prime UTR variant +1 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 306016	NM_014042.3(ANAPC15):c.181-63G>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306015	NM_014042.3(ANAPC15):c.216T>C (p.Asp72=)	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +3 more)	Nonsyndromic Hearing Loss, Recessive	GLikely benign
Select item 306014	NM_014042.3(ANAPC15):c.296C>T (p.Pro99Leu)	ANAPC15, LRTOMT (P99L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 306013	NM_014042.3(ANAPC15):c.318+3A>G	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306012	NM_014042.3(ANAPC15):c.318+47C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306011	NM_014042.3(ANAPC15):c.*79A>G	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely benign
Select item 306010	NM_001393500.2(TOMT):c.*622C>T	TOMT, ANAPC15 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306009	NM_001393500.2(TOMT):c.*601A>C	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306008	NM_001393500.2(TOMT):c.*437T>C	LRTOMT, TOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306007	NM_001393500.2(TOMT):c.*379C>T	ANAPC15, TOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Nonsyndromic Hearing Loss, Recessive	GLikely benign
Select item 306006	NM_001393500.2(TOMT):c.*336C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306005	NM_001393500.2(TOMT):c.*262CT[1]	LRTOMT, TOMT +1 more	Microsatellite (3 prime UTR variant +1 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 306004	NM_001393500.2(TOMT):c.*255G>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 306003	NM_001393500.2(TOMT):c.773G>A (p.Gly258Asp)	ANAPC15, LRTOMT +1 more (G291D +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306002	NM_001393500.2(TOMT):c.761A>G (p.Tyr254Cys)	LRTOMT, TOMT +1 more (Y287C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306001	NM_001393500.2(TOMT):c.698G>A (p.Arg233His)	ANAPC15, LRTOMT +1 more (R266H +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306000	NM_001393500.2(TOMT):c.685C>T (p.Arg229Cys)	TOMT, ANAPC15 +1 more (R262C +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305999	NM_001393500.2(TOMT):c.681T>G (p.Cys227Trp)	ANAPC15, LRTOMT +1 more (C260W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 305998	NM_001393500.2(TOMT):c.550C>T (p.Arg184Trp)	LRTOMT, TOMT +1 more (R217W +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GUncertain significance
Select item 305997	NM_001393500.2(TOMT):c.493C>T (p.Pro165Ser)	ANAPC15, LRTOMT +1 more (P198S +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305996	NM_001393500.2(TOMT):c.486C>T (p.Asp162=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 305995	NM_001393500.2(TOMT):c.469G>A (p.Val157Met)	TOMT, ANAPC15 +1 more (V190M +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305994	NM_001393500.2(TOMT):c.404C>T (p.Thr135Met)	LRTOMT, TOMT +1 more (T168M +2 more)	Single nucleotide variant (missense variant +3 more)	LRTOMT-related condition +2 more	GConflicting classifications of pathogenicity

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