Related gene-specific medical variations for Gene (Select 220074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121253	NM_001393500.2(TOMT):c.443T>C (p.Phe148Ser)	ANAPC15, LRTOMT +1 more (F148S +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3121252	NM_001393500.2(TOMT):c.385G>A (p.Val129Met)	ANAPC15, LRTOMT +1 more (V122M +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3121251	NM_001393500.2(TOMT):c.157G>A (p.Val53Met)	LRTOMT, TOMT (V53M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117760	NM_017907.3(LAMTOR1):c.351A>T (p.Gln117His)	LAMTOR1, LRTOMT (Q117H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117759	NM_017907.3(LAMTOR1):c.326C>T (p.Pro109Leu)	LAMTOR1, LRTOMT (P109L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3075852	NM_145309.6(LRRC51):c.83-1_83del	LRRC51, LRTOMT	Deletion (splice acceptor variant)	Rare genetic deafness	GLikely pathogenic
Select item 3042061	NM_145309.6(LRRC51):c.529C>T (p.Arg177Cys)	LRRC51, LRTOMT (R159C +1 more)	Single nucleotide variant (missense variant +3 more)	LRTOMT-related condition	GLikely benign
Select item 3039904	NM_001393500.2(TOMT):c.300T>G (p.Ala100=)	LRTOMT, TOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related condition	GLikely benign
Select item 3039178	NM_145309.6(LRRC51):c.409A>G (p.Asn137Asp)	LRRC51, LRTOMT (N119D +1 more)	Single nucleotide variant (missense variant +2 more)	LRTOMT-related condition	GLikely benign
Select item 3034517	NM_145309.6(LRRC51):c.468C>T (p.Ile156=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related condition	GLikely benign
Select item 2972147	NM_145309.6(LRRC51):c.437+18G>A	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 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 2683157	NM_001393500.2(TOMT):c.224G>A (p.Arg75His)	LRTOMT, TOMT (R108H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2642117	NM_017907.3(LAMTOR1):c.420C>T (p.Tyr140=)	LAMTOR1, LRTOMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642116	NM_145309.6(LRRC51):c.37G>A (p.Glu13Lys)	LRRC51, LRTOMT (E13K)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2545677	NM_017907.3(LAMTOR1):c.191A>T (p.Asn64Ile)	LAMTOR1, LRTOMT (N64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535283	NM_001393500.2(TOMT):c.245T>C (p.Met82Thr)	LRTOMT, TOMT (M82T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	not specified	GLikely benign
Select item 2516976	NM_017907.3(LAMTOR1):c.97C>G (p.Leu33Val)	LAMTOR1, LRTOMT (L33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2442643	NM_001393500.2(TOMT):c.586G>A (p.Glu196Lys)	ANAPC15, LRTOMT +1 more (E189K +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2433534	NM_001393500.2(TOMT):c.80T>C (p.Leu27Pro)	LRTOMT, TOMT (L27P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	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 2365472	NM_017907.3(LAMTOR1):c.116A>T (p.Asn39Ile)	LAMTOR1, LRTOMT (N39I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356334	NM_014042.3(ANAPC15):c.227G>C (p.Ser76Thr)	ANAPC15, LRTOMT (S76T +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2341365	NM_017907.3(LAMTOR1):c.56G>A (p.Arg19Gln)	LAMTOR1, LRTOMT (R19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326892	NM_001393500.2(TOMT):c.61C>T (p.Arg21Trp)	LRTOMT, TOMT (R54W +1 more)	Single nucleotide variant (missense variant +1 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)	not specified	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 2296876	NM_017907.3(LAMTOR1):c.53A>C (p.Glu18Ala)	LAMTOR1, LRTOMT (E18A)	Single nucleotide variant (missense variant +1 more)	not specified	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 2241403	NM_001393500.2(TOMT):c.101G>A (p.Arg34Gln)	LRTOMT, TOMT (R34Q +1 more)	Single nucleotide variant (missense variant +1 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 2221537	NM_017907.3(LAMTOR1):c.73C>T (p.Pro25Ser)	LAMTOR1, LRTOMT (P25S)	Single nucleotide variant (missense variant +1 more)	not specified	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 1990238	NM_001393500.2(TOMT):c.85C>T (p.Arg29Cys)	LRTOMT, TOMT (R29C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 1810173	NM_001393500.2(TOMT):c.56G>A (p.Arg19Gln)	LRTOMT, TOMT (R19Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804950	NM_001393500.2(TOMT):c.100C>T (p.Arg34Ter)	TOMT, LRTOMT (R34* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 1706260	NM_001393500.2(TOMT):c.169G>C (p.Ala57Pro)	LRTOMT, TOMT (A50P +2 more)	Single nucleotide variant (missense variant)	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 1699172	NM_145309.6(LRRC51):c.330del (p.His110fs)	LRRC51, LRTOMT (H110fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1687602	NM_145309.6(LRRC51):c.340_346del (p.Ile114fs)	LRRC51, LRTOMT (I114fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 1670178	NM_001393500.2(TOMT):c.762T>C (p.Tyr254=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 1481162	NM_001393500.2(TOMT):c.131G>A (p.Arg44Gln)	LRTOMT, TOMT (R44Q +2 more)	Single nucleotide variant (missense variant)	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)	ANAPC15, LRTOMT +1 more (R219* +2 more)	Single nucleotide variant (nonsense +3 more)	not provided	GUncertain significance
Select item 1443179	NM_001393500.2(TOMT):c.241C>T (p.His81Tyr)	LRTOMT, TOMT (H81Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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)	ANAPC15, LRTOMT +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 1376047	NM_001393500.2(TOMT):c.-4_10del (p.Met1fs)	LRTOMT, TOMT (T33fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1366661	NM_001393500.2(TOMT):c.531C>A (p.Asp177Glu)	LRTOMT, ANAPC15 +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)	TOMT, ANAPC15 +1 more (L206I +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1344959	NM_145309.6(LRRC51):c.52T>C (p.Tyr18His)	LRTOMT, LRRC51 (Y18H)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely benign
Select item 1339595	NM_001393500.2(TOMT):c.74G>A (p.Arg25Gln)	LRTOMT, TOMT (R25Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1333694	NM_001393500.2(TOMT):c.62G>A (p.Arg21Gln)	LRTOMT, TOMT (R21Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1333659	NM_001393500.2(TOMT):c.55C>T (p.Arg19Trp)	LRTOMT, TOMT (R19W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1305224	NM_145309.6(LRRC51):c.116G>A (p.Arg39Gln)	LRRC51, LRTOMT (R21Q +1 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 1258396	NM_145309.6(LRRC51):c.289-261GA[4]	LRRC51, LRTOMT	Microsatellite (intron variant)	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 1251059	NM_145309.6(LRRC51):c.-56+242A>C	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247784	NM_145309.6(LRRC51):c.-55-110T>C	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246309	NM_145309.6(LRRC51):c.-139-239G>A	LRTOMT, LRRC51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244194	NM_145309.6(LRRC51):c.288+19G>C	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230538	NM_145309.6(LRRC51):c.*170dup	LRRC51, LRTOMT	Duplication (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1228800	NM_145309.6(LRRC51):c.*170del	LRRC51, LRTOMT	Deletion (3 prime UTR variant +2 more)	not provided	GBenign
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 1216389	NM_145309.6(LRRC51):c.528A>G (p.Lys176=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1215477	NM_145309.6(LRRC51):c.*1260C>T	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1214279	NM_145309.6(LRRC51):c.464G>A (p.Arg155His)	LRRC51, LRTOMT (R137H +1 more)	Single nucleotide variant (missense 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)	not provided +1 more	GUncertain significance
Select item 1208866	NM_145309.6(LRRC51):c.*37A>G	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1205440	NM_145309.6(LRRC51):c.83-109A>G	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202287	NM_145309.6(LRRC51):c.-55-195A>G	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198763	NM_001393500.2(TOMT):c.259+26C>T	LRTOMT, TOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196151	NM_001393500.2(TOMT):c.456+122G>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1196077	NM_145309.6(LRRC51):c.-56+176C>T	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187305	NM_145309.6(LRRC51):c.542A>C (p.Lys181Thr)	LRRC51, LRTOMT (K163T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1186617	NM_145309.6(LRRC51):c.*22C>T	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1064902	NM_001145308.5(LRTOMT):c.249C>G (p.Phe83Leu)	LRTOMT, TOMT (F43L +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
Select item 1049568	NM_145309.6(LRRC51):c.*1201A>C	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +3 more)	LRTOMT-related condition +1 more	GBenign
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)	TOMT, ANAPC15 +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)	ANAPC15, LRTOMT +1 more (R217Q +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +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

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