ClinVar for Gene (Select 125336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384029	NM_001384474.1(LOXHD1):c.759+2T>A	LOXHD1	Single nucleotide variant (splice donor variant)	Deafness	GPathogenic
Select item 3382632	NM_001384474.1(LOXHD1):c.3268C>T (p.Arg1090Trp)	LOXHD1 (R1090W)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 3373424	NM_001384474.1(LOXHD1):c.128G>T (p.Arg43Ile)	LOXHD1 (R43I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369346	NM_001384474.1(LOXHD1):c.2054G>A (p.Arg685His)	LOXHD1 (R685H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361725	NM_001384474.1(LOXHD1):c.6520G>A (p.Val2174Ile)	LOXHD1 (V1063I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353738	NM_001384474.1(LOXHD1):c.5208C>T (p.Gly1736=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	LOXHD1-related disorder	GLikely benign
Select item 3348104	NM_001384474.1(LOXHD1):c.1588G>T (p.Glu530Ter)	LOXHD1 (E530*)	Single nucleotide variant (nonsense)	LOXHD1-related disorder	GLikely pathogenic
Select item 3340274	NM_001384474.1(LOXHD1):c.4549G>A (p.Glu1517Lys)	LOXHD1 (E1517K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3291097	NM_001384474.1(LOXHD1):c.3829C>A (p.Arg1277Ser)	LOXHD1 (R1277S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291096	NM_001384474.1(LOXHD1):c.50C>T (p.Ala17Val)	LOXHD1 (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291095	NM_001384474.1(LOXHD1):c.6206T>A (p.Phe2069Tyr)	LOXHD1 (F2007Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291094	NM_001384474.1(LOXHD1):c.5696C>A (p.Ala1899Glu)	LOXHD1 (A1837E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291093	NM_001384474.1(LOXHD1):c.1395C>G (p.Asn465Lys)	LOXHD1 (N465K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291092	NM_001384474.1(LOXHD1):c.865G>C (p.Gly289Arg)	LOXHD1 (G289R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291091	NM_001384474.1(LOXHD1):c.956T>G (p.Val319Gly)	LOXHD1 (V319G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291090	NM_001384474.1(LOXHD1):c.5895G>C (p.Trp1965Cys)	LOXHD1 (W1903C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291089	NM_001384474.1(LOXHD1):c.3848A>T (p.Glu1283Val)	LOXHD1 (E1283V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291088	NM_001384474.1(LOXHD1):c.3860C>T (p.Ser1287Phe)	LOXHD1 (S1287F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291087	NM_001384474.1(LOXHD1):c.5897A>T (p.His1966Leu)	LOXHD1 (H1904L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291086	NM_001384474.1(LOXHD1):c.1928A>T (p.Glu643Val)	LOXHD1 (E643V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291085	NM_001384474.1(LOXHD1):c.6469G>A (p.Glu2157Lys)	LOXHD1 (E396K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291084	NM_001384474.1(LOXHD1):c.4339C>T (p.Arg1447Trp)	LOXHD1 (R336W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291083	NM_001384474.1(LOXHD1):c.1261C>T (p.Arg421Trp)	LOXHD1 (R421W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251659	NM_001384474.1(LOXHD1):c.3834G>C (p.Trp1278Cys)	LOXHD1 (W1278C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242821	NC_000018.9:g.(?_44065060)_(44071195_?)del	LOXHD1	Deletion	not provided	GLikely pathogenic
Select item 3242819	NC_000018.9:g.(?_44089712)_(44098801_?)del	LOXHD1	Deletion	not provided	GLikely pathogenic
Select item 3242818	NC_000018.9:g.(?_44190818)_(44195164_?)del	LOXHD1	Deletion	not provided	GLikely pathogenic
Select item 3242817	NC_000018.9:g.(?_44198135)_(44222019_?)dup	LOXHD1	Duplication	not provided	GLikely pathogenic
Select item 3242816	NC_000018.9:g.(?_44139391)_(44140528_?)del	LOXHD1	Deletion	not provided	GPathogenic
Select item 3242815	NC_000018.9:g.(?_44085781)_(44143208_?)del	LOXHD1	Deletion	not provided	GPathogenic
Select item 3242814	NC_000018.9:g.(?_44089641)_(44089798_?)del	LOXHD1	Deletion	not provided	GPathogenic
Select item 3242813	NC_000018.9:g.(?_44139401)_(44139575_?)del	LOXHD1	Deletion	not provided	GPathogenic
Select item 3242804	NC_000018.9:g.(?_42281312)_(45423127_?)del	ARK2C, ARK2N +17 more	Deletion	not provided	GPathogenic
Select item 3234037	NM_001384474.1(LOXHD1):c.4354_4357del (p.Lys1451_Glu1452insTer)	LOXHD1	Deletion (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 3220923	NM_001384474.1(LOXHD1):c.486_487delinsGG (p.Ser162_Phe163delinsArgVal)	LOXHD1	Indel (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 3119616	NM_001384474.1(LOXHD1):c.6778C>T (p.Arg2260Trp)	LOXHD1 (R2260W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119615	NM_001384474.1(LOXHD1):c.6286G>A (p.Glu2096Lys)	LOXHD1 (E2034K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119614	NM_001384474.1(LOXHD1):c.5895G>T (p.Trp1965Cys)	LOXHD1 (W1903C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119613	NM_001384474.1(LOXHD1):c.5668G>A (p.Ala1890Thr)	LOXHD1 (A129T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119612	NM_001384474.1(LOXHD1):c.5407C>T (p.Arg1803Trp)	LOXHD1 (R596W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119611	NM_001384474.1(LOXHD1):c.4817C>A (p.Ala1606Asp)	LOXHD1 (A495D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119610	NM_001384474.1(LOXHD1):c.4630A>G (p.Lys1544Glu)	LOXHD1 (K433E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119608	NM_001384474.1(LOXHD1):c.4505G>A (p.Arg1502Gln)	LOXHD1 (R1502Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119607	NM_001384474.1(LOXHD1):c.4504C>G (p.Arg1502Gly)	LOXHD1 (R391G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119606	NM_001384474.1(LOXHD1):c.4298A>G (p.Tyr1433Cys)	LOXHD1 (Y322C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119605	NM_001384474.1(LOXHD1):c.4252G>T (p.Ala1418Ser)	LOXHD1 (A1418S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119603	NM_001384474.1(LOXHD1):c.4201C>A (p.Pro1401Thr)	LOXHD1 (P194T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119602	NM_001384474.1(LOXHD1):c.3980T>C (p.Phe1327Ser)	LOXHD1 (F1327S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119600	NM_001384474.1(LOXHD1):c.3793C>G (p.Pro1265Ala)	LOXHD1 (P154A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119599	NM_001384474.1(LOXHD1):c.3543A>G (p.Ile1181Met)	LOXHD1 (I70M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119598	NM_001384474.1(LOXHD1):c.344C>T (p.Thr115Met)	LOXHD1 (T115M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119597	NM_001384474.1(LOXHD1):c.2945G>C (p.Gly982Ala)	LOXHD1 (G982A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119596	NM_001384474.1(LOXHD1):c.2711G>T (p.Arg904Leu)	LOXHD1 (R904L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119595	NM_001384474.1(LOXHD1):c.2170G>T (p.Asp724Tyr)	LOXHD1 (D724Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119594	NM_001384474.1(LOXHD1):c.2048A>T (p.Asn683Ile)	LOXHD1 (N683I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119593	NM_001384474.1(LOXHD1):c.1883G>T (p.Gly628Val)	LOXHD1 (G628V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119592	NM_001384474.1(LOXHD1):c.1808A>T (p.Asn603Ile)	LOXHD1 (N603I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119591	NM_001384474.1(LOXHD1):c.1808A>G (p.Asn603Ser)	LOXHD1 (N603S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119590	NM_001384474.1(LOXHD1):c.1517G>A (p.Arg506Lys)	LOXHD1 (R506K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3119589	NM_001384474.1(LOXHD1):c.1441C>T (p.Pro481Ser)	LOXHD1 (P481S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119588	NM_001384474.1(LOXHD1):c.1303G>T (p.Asp435Tyr)	LOXHD1 (D435Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119587	NM_001384474.1(LOXHD1):c.1142T>C (p.Ile381Thr)	LOXHD1 (I381T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075840	NM_001384474.1(LOXHD1):c.5096A>C (p.Asp1699Ala)	LOXHD1 (D1699A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3066253	NM_001384474.1(LOXHD1):c.6732del (p.Gly2245fs)	LOXHD1 (G2183fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 3059712	NM_001384474.1(LOXHD1):c.6182+4G>A	LOXHD1	Single nucleotide variant (intron variant)	LOXHD1-related disorder	GLikely benign
Select item 3043342	NM_001384474.1(LOXHD1):c.5247C>T (p.Ala1749=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	LOXHD1-related disorder	GLikely benign
Select item 3025541	NM_001384474.1(LOXHD1):c.6763T>C (p.Trp2255Arg)	LOXHD1 (W2193R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025044	NM_001384474.1(LOXHD1):c.2686G>A (p.Val896Met)	LOXHD1 (V896M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024461	NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)	LOXHD1 (C126* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 3023861	NM_001384474.1(LOXHD1):c.2047+13G>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023479	NM_001384474.1(LOXHD1):c.5878+11C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023158	NM_001384474.1(LOXHD1):c.2097C>T (p.Ser699=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021964	NM_001384474.1(LOXHD1):c.5272-11T>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019665	NM_001384474.1(LOXHD1):c.5085+20C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019617	NM_001384474.1(LOXHD1):c.883+16G>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019278	NM_001384474.1(LOXHD1):c.249C>T (p.Ser83=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018738	NM_001384474.1(LOXHD1):c.5518-20G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018530	NM_001384474.1(LOXHD1):c.1810-20T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018414	NM_001384474.1(LOXHD1):c.6183-16C>G	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017774	NM_001384474.1(LOXHD1):c.1134+13C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016654	NM_001384474.1(LOXHD1):c.246-1G>T	LOXHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3016205	NM_001384474.1(LOXHD1):c.5272-12C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015919	NM_001384474.1(LOXHD1):c.3678T>C (p.Ile1226=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015652	NM_001384474.1(LOXHD1):c.1962A>T (p.Pro654=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015470	NM_001384474.1(LOXHD1):c.4376-20C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015159	NM_001384474.1(LOXHD1):c.6182+11G>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014261	NM_001384474.1(LOXHD1):c.5692+15C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013389	NM_001384474.1(LOXHD1):c.3519del (p.Lys1173fs)	LOXHD1 (K1173fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3012868	NM_001384474.1(LOXHD1):c.3914-15G>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012720	NM_001384474.1(LOXHD1):c.5692+12G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012325	NM_001384474.1(LOXHD1):c.909C>T (p.Phe303=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012082	NM_001384474.1(LOXHD1):c.2637G>T (p.Arg879=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012005	NM_001384474.1(LOXHD1):c.245+12C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011363	NM_001384474.1(LOXHD1):c.5742G>A (p.Gly1914=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010953	NM_001384474.1(LOXHD1):c.4605G>A (p.Lys1535=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010949	NM_001384474.1(LOXHD1):c.4960del (p.Glu1654fs)	LOXHD1 (E1654fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3010680	NM_001384474.1(LOXHD1):c.2245-14C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008114	NM_001384474.1(LOXHD1):c.1135-12C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008105	NM_001384474.1(LOXHD1):c.507C>T (p.Pro169=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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