ClinVar for Gene (Select 220074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360195	NM_001145308.5(LRTOMT):c.208C>T (p.Arg70Ter)	LRTOMT (R30* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 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 3121253	NM_001145308.5(LRTOMT):c.542T>C (p.Phe181Ser)	LRTOMT, TOMT +1 more (F148S +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3121252	NM_001145308.5(LRTOMT):c.484G>A (p.Val162Met)	TOMT, ANAPC15 +1 more (V122M +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	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 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 disorder	GLikely benign
Select item 3039904	NM_001145308.5(LRTOMT):c.399T>G (p.Ala133=)	LRTOMT, TOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related disorder	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 disorder	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 disorder	GLikely benign
Select item 3014951	NM_001145308.5(LRTOMT):c.78G>C (p.Gln26His)	LRTOMT (Q26H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972147	NM_001145308.5(LRTOMT):c.34+18G>A	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2798560	NM_001145308.5(LRTOMT):c.843A>G (p.Gly281=)	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	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
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 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 2662403	NM_001145308.5(LRTOMT):c.380T>C (p.Val127Ala)	ANAPC15, LRTOMT +1 more (V127A +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
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 2642117	NM_017907.3(LAMTOR1):c.420C>T (p.Tyr140=)	LAMTOR1, LRTOMT	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2642116	NM_001145308.5(LRTOMT):c.-321-4376G>A	LRTOMT, LRRC51 (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_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 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_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 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 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	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 2393789	NM_001145308.5(LRTOMT):c.785G>A (p.Arg262His)	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_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 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_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 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_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 2276168	NM_001145308.5(LRTOMT):c.790C>T (p.Arg264Cys)	ANAPC15, LRTOMT +1 more (R224C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 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_001145308.5(LRTOMT):c.503C>G (p.Thr168Arg)	ANAPC15, LRTOMT +1 more (T128R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2116215	NM_001145308.5(LRTOMT):c.35-16G>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2059616	NM_001145308.5(LRTOMT):c.454G>A (p.Ala152Thr)	TOMT, ANAPC15 +1 more (A119T +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	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 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 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 1808063	GRCh37/hg19 11q13.4(chr11:71777538-72144933)x3	ANAPC15, CLPB +8 more	Copy number gain	not provided	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 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 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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
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_001145308.5(LRTOMT):c.861T>C (p.Tyr287=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1650797	NM_001145308.5(LRTOMT):c.84-18T>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	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_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 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 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 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 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 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 1420763	NM_001145308.5(LRTOMT):c.382GAG[1] (p.Glu129del)	ANAPC15, LRTOMT +1 more (E129del +2 more)	Microsatellite (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1413443	NM_001145308.5(LRTOMT):c.61T>C (p.Cys21Arg)	LRTOMT (C21R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 1353600	NM_001145308.5(LRTOMT):c.55C>A (p.Leu19Met)	LRTOMT (L19M)	Single nucleotide variant (missense variant)	not provided	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 1344959	NM_145309.6(LRRC51):c.52T>C (p.Tyr18His)	LRRC51, LRTOMT (Y18H)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
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 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 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 1328739	NM_001145308.5(LRTOMT):c.796C>T (p.Arg266Cys)	ANAPC15, LRTOMT +1 more (G117S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1305224	NM_001145308.5(LRTOMT):c.-288G>A	LRRC51, LRTOMT (R21Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1300473	NM_001145308.5(LRTOMT):c.756C>T (p.Arg252=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	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)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
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 1258396	NM_001145308.5(LRTOMT):c.-115-261GA[4]	LRRC51, LRTOMT	Microsatellite (intron variant)	not provided	GBenign
Select item 1258131	NM_001145308.5(LRTOMT):c.35-44T>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
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 1251059	NM_001145308.5(LRTOMT):c.-321-4874A>C	LRTOMT, LRRC51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247784	NM_001145308.5(LRTOMT):c.-321-4577T>C	LRTOMT, LRRC51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246309	NM_001145308.5(LRTOMT):c.-321-5438G>A	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245915	NM_001145308.5(LRTOMT):c.34+1914T>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244194	NM_001145308.5(LRTOMT):c.-116+19G>C	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230538	NM_001145308.5(LRTOMT):c.34+594dup	LRRC51, LRTOMT	Duplication (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1228800	NM_001145308.5(LRTOMT):c.34+594del	LRRC51, LRTOMT	Deletion (3 prime UTR variant +2 more)	not provided	GBenign
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 1216389	NM_001145308.5(LRTOMT):c.34+373A>G	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1215477	NM_001145308.5(LRTOMT):c.34+1684C>T	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1214279	NM_001145308.5(LRTOMT):c.34+309G>A	LRTOMT, LRRC51 (R137H +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1214038	NM_001145308.5(LRTOMT):c.670G>A (p.Asp224Asn)	ANAPC15, LRTOMT +1 more (D184N +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1208866	NM_001145308.5(LRTOMT):c.34+461A>G	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign

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