ClinVar for Gene (Select 127602) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372156	NM_001367479.1(DNAH14):c.667_668delinsTA (p.Gly223Tyr)	DNAH14 (G173Y +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3372093	NM_001367479.1(DNAH14):c.10773del (p.Ala3592fs)	DNAH14 (A3592fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3371793	NM_001367479.1(DNAH14):c.9604A>C (p.Asn3202His)	DNAH14 (N3202H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371792	NM_001367479.1(DNAH14):c.2696C>T (p.Thr899Ile)	DNAH14 (T899I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371723	NM_001367479.1(DNAH14):c.9353C>T (p.Pro3118Leu)	DNAH14 (P3118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371722	NM_001367479.1(DNAH14):c.5155A>G (p.Thr1719Ala)	DNAH14 (T1719A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371299	NM_001367479.1(DNAH14):c.9610T>A (p.Tyr3204Asn)	DNAH14 (Y3204N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371298	NM_001367479.1(DNAH14):c.2978A>C (p.Glu993Ala)	DNAH14 (E993A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371096	NM_001367479.1(DNAH14):c.11156_11162delinsTTAGC (p.Thr3719fs)	DNAH14 (T3719fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3371091	NM_001367479.1(DNAH14):c.4741-9G>A	DNAH14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3370147	NM_001367479.1(DNAH14):c.13274A>G (p.Asn4425Ser)	DNAH14 (N4425S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370146	NM_001367479.1(DNAH14):c.2072A>G (p.Gln691Arg)	DNAH14 (Q691R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369344	NM_001367479.1(DNAH14):c.2456del (p.Cys819fs)	DNAH14 (C819fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3369170	NM_001367479.1(DNAH14):c.13600T>G (p.Cys4534Gly)	DNAH14 (C4534G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369169	NM_001367479.1(DNAH14):c.4805_4806del (p.Lys1602fs)	DNAH14 (K1602fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3369008	NM_001367479.1(DNAH14):c.2020C>T (p.Gln674Ter)	DNAH14 (Q674*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3368779	NM_001367479.1(DNAH14):c.442C>G (p.Gln148Glu)	DNAH14 (Q148E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368269	NM_001367479.1(DNAH14):c.2434T>C (p.Ser812Pro)	DNAH14 (S812P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368264	NM_001367479.1(DNAH14):c.3088C>G (p.Gln1030Glu)	DNAH14 (Q1030E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367840	NM_001367479.1(DNAH14):c.1769-2A>T	DNAH14	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3367782	NM_001367479.1(DNAH14):c.7981C>T (p.Leu2661Phe)	DNAH14 (L2661F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367606	NM_001367479.1(DNAH14):c.8437G>C (p.Val2813Leu)	DNAH14 (V2813L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367535	NM_001367479.1(DNAH14):c.11401T>C (p.Cys3801Arg)	DNAH14 (C3801R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367371	NM_001367479.1(DNAH14):c.2557C>T (p.Gln853Ter)	DNAH14 (Q853*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3366217	NM_001367479.1(DNAH14):c.13639-5T>A	DNAH14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365856	NM_001367479.1(DNAH14):c.207_208del (p.Lys70fs)	DNAH14 (K70fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3365339	NM_001367479.1(DNAH14):c.5582C>A (p.Thr1861Lys)	DNAH14 (T1861K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365338	NM_001367479.1(DNAH14):c.6013G>A (p.Val2005Met)	DNAH14 (V2005M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365290	NM_001367479.1(DNAH14):c.2115G>A (p.Met705Ile)	DNAH14 (M705I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364504	NM_001367479.1(DNAH14):c.12392_12397delinsCTGGAT (p.Ile4131_Glu4133delinsThrGlyTer)	DNAH14	Indel (nonsense)	not provided	GUncertain significance
Select item 3364355	NM_001367479.1(DNAH14):c.12423_12426dup (p.Asn4143Ter)	DNAH14 (N4143*)	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 3364354	NM_001367479.1(DNAH14):c.13475_13478del (p.Val4492fs)	DNAH14 (V4492fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364196	NM_001367479.1(DNAH14):c.1255A>T (p.Ile419Phe)	DNAH14 (I396F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363880	NM_001367479.1(DNAH14):c.368-3C>G	DNAH14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3363839	NM_001367479.1(DNAH14):c.9938C>G (p.Ala3313Gly)	DNAH14 (A3313G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363672	NM_001367479.1(DNAH14):c.12166A>C (p.Thr4056Pro)	DNAH14 (T4056P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363472	NM_001367479.1(DNAH14):c.5196+2T>C	DNAH14	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3363471	NM_001367479.1(DNAH14):c.8981G>A (p.Arg2994Gln)	DNAH14 (R2994Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359549	NM_001367479.1(DNAH14):c.12218T>G (p.Leu4073Ter)	DNAH14 (L4073*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3359350	NM_001367479.1(DNAH14):c.3500T>C (p.Ile1167Thr)	DNAH14 (I1167T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359349	NM_001367479.1(DNAH14):c.1013G>A (p.Cys338Tyr)	DNAH14 (C315Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352676	NM_001367479.1(DNAH14):c.10450G>T (p.Glu3484Ter)	DNAH14 (E3484*)	Single nucleotide variant (nonsense)	DNAH14-related disorder	GLikely benign
Select item 3352282	NM_001367479.1(DNAH14):c.4443C>A (p.Cys1481Ter)	DNAH14 (C1481*)	Single nucleotide variant (nonsense)	DNAH14-related disorder	GUncertain significance
Select item 3348091	NM_001367479.1(DNAH14):c.767+10A>G	DNAH14	Single nucleotide variant (3 prime UTR variant +1 more)	DNAH14-related disorder	GUncertain significance
Select item 3343358	NM_001367479.1(DNAH14):c.13090A>G (p.Arg4364Gly)	DNAH14 (R4364G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343084	NM_001367479.1(DNAH14):c.5713C>A (p.Pro1905Thr)	DNAH14 (P1905T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342925	NM_001367479.1(DNAH14):c.12613C>T (p.His4205Tyr)	DNAH14 (H4205Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342806	NM_001367479.1(DNAH14):c.13639-2del	DNAH14	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 3342791	NM_001367479.1(DNAH14):c.9097G>A (p.Val3033Ile)	DNAH14 (V3033I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342515	NM_001367479.1(DNAH14):c.11422G>A (p.Val3808Ile)	DNAH14 (V3808I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342500	NM_001367479.1(DNAH14):c.13829T>C (p.Leu4610Ser)	DNAH14 (L4610S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3272698	NM_001367479.1(DNAH14):c.4822G>A (p.Val1608Ile)	DNAH14 (V1608I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272697	NM_001367479.1(DNAH14):c.2977G>A (p.Glu993Lys)	DNAH14 (E993K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272696	NM_001367479.1(DNAH14):c.7882T>C (p.Ser2628Pro)	DNAH14 (S2628P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272695	NM_001367479.1(DNAH14):c.4141A>G (p.Lys1381Glu)	DNAH14 (K1381E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272694	NM_001367479.1(DNAH14):c.5331A>G (p.Ile1777Met)	DNAH14 (I1777M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272692	NM_001367479.1(DNAH14):c.10361A>G (p.Asp3454Gly)	DNAH14 (D3454G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272691	NM_001367479.1(DNAH14):c.9762A>C (p.Lys3254Asn)	DNAH14 (K3254N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272690	NM_001367479.1(DNAH14):c.5062G>C (p.Val1688Leu)	DNAH14 (V1688L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272689	NM_001367479.1(DNAH14):c.5654G>A (p.Arg1885Lys)	DNAH14 (R1885K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272688	NM_001367479.1(DNAH14):c.8755C>T (p.Pro2919Ser)	DNAH14 (P2919S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272687	NM_001367479.1(DNAH14):c.12859T>C (p.Ser4287Pro)	DNAH14 (S4287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272686	NM_001367479.1(DNAH14):c.6441T>A (p.Ser2147Arg)	DNAH14 (S2147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272685	NM_001367479.1(DNAH14):c.4823T>A (p.Val1608Asp)	DNAH14 (V1608D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272684	NM_001367479.1(DNAH14):c.7154C>T (p.Ser2385Leu)	DNAH14 (S2385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272683	NM_001367479.1(DNAH14):c.3075T>A (p.Asp1025Glu)	DNAH14 (D1025E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272682	NM_001367479.1(DNAH14):c.2005A>G (p.Ile669Val)	DNAH14 (I669V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272681	NM_001367479.1(DNAH14):c.8279T>C (p.Ile2760Thr)	DNAH14 (I2760T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272680	NM_001367479.1(DNAH14):c.1608C>G (p.Asn536Lys)	DNAH14 (N536K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272679	NM_001367479.1(DNAH14):c.9881C>T (p.Thr3294Ile)	DNAH14 (T3294I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272678	NM_001367479.1(DNAH14):c.6002T>C (p.Leu2001Pro)	DNAH14 (L2001P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272677	NM_001367479.1(DNAH14):c.5272T>C (p.Cys1758Arg)	DNAH14 (C1758R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272676	NM_001367479.1(DNAH14):c.8422A>C (p.Lys2808Gln)	DNAH14 (K2808Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272675	NM_001367479.1(DNAH14):c.2279T>C (p.Met760Thr)	DNAH14 (M760T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272674	NM_001367479.1(DNAH14):c.3872A>G (p.Tyr1291Cys)	DNAH14 (Y1291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272673	NM_001367479.1(DNAH14):c.2771G>C (p.Arg924Thr)	DNAH14 (R924T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272672	NM_001367479.1(DNAH14):c.9656C>T (p.Ala3219Val)	DNAH14 (A3219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272671	NM_001367479.1(DNAH14):c.13598T>C (p.Met4533Thr)	DNAH14 (M4533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272670	NM_001367479.1(DNAH14):c.6167G>A (p.Arg2056Gln)	DNAH14 (R2056Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272669	NM_001367479.1(DNAH14):c.4498G>A (p.Glu1500Lys)	DNAH14 (E1500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272668	NM_001367479.1(DNAH14):c.3917G>A (p.Ser1306Asn)	DNAH14 (S1306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272667	NM_001367479.1(DNAH14):c.3898C>G (p.Pro1300Ala)	DNAH14 (P1300A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272666	NM_001367479.1(DNAH14):c.6626G>A (p.Arg2209His)	DNAH14 (R2209H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272665	NM_001367479.1(DNAH14):c.4622C>T (p.Thr1541Met)	DNAH14 (T1541M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272663	NM_001367479.1(DNAH14):c.7903C>T (p.Leu2635Phe)	DNAH14 (L2635F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3272662	NM_001367479.1(DNAH14):c.7304C>T (p.Thr2435Ile)	DNAH14 (T2435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272661	NM_001367479.1(DNAH14):c.12976A>G (p.Lys4326Glu)	DNAH14 (K4326E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272660	NM_001367479.1(DNAH14):c.336G>T (p.Arg112Ser)	DNAH14 (R112S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272659	NM_001367479.1(DNAH14):c.2311G>A (p.Val771Ile)	DNAH14 (V771I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272658	NM_001367479.1(DNAH14):c.1295A>C (p.Glu432Ala)	DNAH14 (E409A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272657	NM_001367479.1(DNAH14):c.7672G>A (p.Ala2558Thr)	DNAH14 (A2558T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252612	NM_001367479.1(DNAH14):c.8344C>T (p.Arg2782Ter)	DNAH14 (R2782*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3237509	NM_001367479.1(DNAH14):c.5120del (p.Gly1707fs)	DNAH14 (G1707fs)	Deletion (frameshift variant)	DNAH14-related neurodevelopmental disorder	GUncertain significance
Select item 3237456	NM_001367479.1(DNAH14):c.11134T>C (p.Cys3712Arg)	DNAH14 (C3712R)	Single nucleotide variant (missense variant)	DNAH14-related neurodevelopmental disorder	GUncertain significance
Select item 3235764	NM_001367479.1(DNAH14):c.7133_7137del (p.Leu2377_Leu2378insTer)	DNAH14	Deletion (nonsense)	not provided	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3083670	NM_001367479.1(DNAH14):c.9826T>C (p.Cys3276Arg)	DNAH14 (C3276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083669	NM_001367479.1(DNAH14):c.9686G>T (p.Arg3229Leu)	DNAH14 (R3229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083668	NM_001367479.1(DNAH14):c.9532G>A (p.Asp3178Asn)	DNAH14 (D3178N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083667	NM_001367479.1(DNAH14):c.9346C>T (p.Arg3116Trp)	DNAH14 (R3116W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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