DNAH12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 2458520	NM_001366028.2(DNAH12):c.11877T>A (p.Asp3959Glu)	DNAH12 (D3959E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083600	NM_001366028.2(DNAH12):c.11845A>G (p.Lys3949Glu)	DNAH12 (K3949E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600282	NM_001366028.2(DNAH12):c.11834G>A (p.Arg3945Gln)	DNAH12 (R3945Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513068	NM_001366028.2(DNAH12):c.11833C>T (p.Arg3945Trp)	DNAH12 (R3945W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083599	NM_001366028.2(DNAH12):c.11830A>G (p.Thr3944Ala)	DNAH12 (T3944A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406049	NM_001366028.2(DNAH12):c.11756G>A (p.Arg3919His)	DNAH12 (R3919H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304691	NM_001366028.2(DNAH12):c.11755C>T (p.Arg3919Cys)	DNAH12 (R3919C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351388	NM_001366028.2(DNAH12):c.11717C>T (p.Ser3906Leu)	DNAH12 (S3906L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083598	NM_001366028.2(DNAH12):c.11705G>A (p.Arg3902Gln)	DNAH12 (R3902Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356223	NM_001366028.2(DNAH12):c.11587G>A (p.Gly3863Arg)	DNAH12 (G3863R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083597	NM_001366028.2(DNAH12):c.11507T>C (p.Ile3836Thr)	DNAH12 (I3836T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083596	NM_001366028.2(DNAH12):c.11506A>G (p.Ile3836Val)	DNAH12 (I3836V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319521	NM_001366028.2(DNAH12):c.11453A>G (p.Gln3818Arg)	DNAH12 (Q3818R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521309	NM_001366028.2(DNAH12):c.11365G>A (p.Asp3789Asn)	DNAH12 (D3789N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325440	NM_001366028.2(DNAH12):c.11355T>A (p.Ser3785Arg)	DNAH12 (S3785R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402630	NM_001366028.2(DNAH12):c.11281G>A (p.Gly3761Ser)	DNAH12 (G3761S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3083594	NM_001366028.2(DNAH12):c.11248G>A (p.Val3750Ile)	DNAH12 (V3750I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083593	NM_001366028.2(DNAH12):c.11183T>C (p.Phe3728Ser)	DNAH12 (F3728S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083592	NM_001366028.2(DNAH12):c.11120G>A (p.Arg3707Gln)	DNAH12 (R3707Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570570	NM_001366028.2(DNAH12):c.11101G>A (p.Asp3701Asn)	DNAH12 (D3701N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554539	NM_001366028.2(DNAH12):c.11072A>G (p.Asp3691Gly)	DNAH12 (D3691G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211981	NM_001366028.2(DNAH12):c.11042C>T (p.Thr3681Ile)	DNAH12 (T3681I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552514	NM_001366028.2(DNAH12):c.10973C>G (p.Thr3658Arg)	DNAH12 (T3658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235152	NM_001366028.2(DNAH12):c.10883T>C (p.Ile3628Thr)	DNAH12 (I3628T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024929	NM_001366028.2(DNAH12):c.10836C>T (p.Pro3612=)	DNAH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3083591	NM_001366028.2(DNAH12):c.10762C>T (p.Arg3588Cys)	DNAH12 (R3588C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281661	NM_001366028.2(DNAH12):c.10639C>T (p.Arg3547Cys)	DNAH12 (R3547C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454782	NM_001366028.2(DNAH12):c.10628A>C (p.Glu3543Ala)	DNAH12 (E3543A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083590	NM_001366028.2(DNAH12):c.10481T>G (p.Val3494Gly)	DNAH12 (V3494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083589	NM_001366028.2(DNAH12):c.10436C>T (p.Thr3479Met)	DNAH12 (T3479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083588	NM_001366028.2(DNAH12):c.10409G>C (p.Gly3470Ala)	DNAH12 (G3470A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083587	NM_001366028.2(DNAH12):c.10372C>T (p.Pro3458Ser)	DNAH12 (P3458S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296203	NM_001366028.2(DNAH12):c.10336T>A (p.Cys3446Ser)	DNAH12 (C3446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217207	NM_001366028.2(DNAH12):c.10334C>G (p.Thr3445Ser)	DNAH12 (T3445S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204298	NM_001366028.2(DNAH12):c.10292T>C (p.Met3431Thr)	DNAH12 (M3431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083586	NM_001366028.2(DNAH12):c.10254G>T (p.Trp3418Cys)	DNAH12 (W3418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083585	NM_001366028.2(DNAH12):c.10247G>A (p.Gly3416Glu)	DNAH12 (G3416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319072	NM_001366028.2(DNAH12):c.10211T>C (p.Ile3404Thr)	DNAH12 (I3404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601294	NM_001366028.2(DNAH12):c.10183A>G (p.Ile3395Val)	DNAH12 (I3395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517775	NM_001366028.2(DNAH12):c.10115C>T (p.Ala3372Val)	DNAH12 (A3372V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217261	NM_001366028.2(DNAH12):c.10112G>A (p.Gly3371Glu)	DNAH12 (G3371E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462950	NM_001366028.2(DNAH12):c.10099G>A (p.Val3367Ile)	DNAH12 (V3367I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342645	NM_001366028.2(DNAH12):c.10006A>G (p.Thr3336Ala)	DNAH12 (T3336A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083584	NM_001366028.2(DNAH12):c.9988G>A (p.Ala3330Thr)	DNAH12 (A3330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549406	NM_001366028.2(DNAH12):c.9959G>A (p.Arg3320Gln)	DNAH12 (R3320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337708	NM_001366028.2(DNAH12):c.9955C>G (p.Leu3319Val)	DNAH12 (L3319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083583	NM_001366028.2(DNAH12):c.9857A>G (p.Tyr3286Cys)	DNAH12 (Y3286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272650	NM_001366028.2(DNAH12):c.9850C>T (p.His3284Tyr)	DNAH12 (H3284Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479242	NM_001366028.2(DNAH12):c.9808G>C (p.Glu3270Gln)	DNAH12 (E3270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522773	NM_001366028.2(DNAH12):c.9799C>T (p.Arg3267Trp)	DNAH12 (R3267W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460387	NM_001366028.2(DNAH12):c.9760C>T (p.Pro3254Ser)	DNAH12 (P3254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537021	NM_001366028.2(DNAH12):c.9704T>C (p.Leu3235Pro)	DNAH12 (L3235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272641	NM_001366028.2(DNAH12):c.9692A>G (p.Glu3231Gly)	DNAH12 (E3231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293568	NM_001366028.2(DNAH12):c.9685G>C (p.Glu3229Gln)	DNAH12 (E3229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083581	NM_001366028.2(DNAH12):c.9679A>G (p.Arg3227Gly)	DNAH12 (R3227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083580	NM_001366028.2(DNAH12):c.9642A>T (p.Leu3214Phe)	DNAH12 (L3214F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402631	NM_001366028.2(DNAH12):c.9639G>C (p.Leu3213=)	DNAH12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3083579	NM_001366028.2(DNAH12):c.9626A>G (p.Glu3209Gly)	DNAH12 (E3209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272633	NM_001366028.2(DNAH12):c.9614G>A (p.Arg3205Gln)	DNAH12 (R3205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083578	NM_001366028.2(DNAH12):c.9598T>C (p.Tyr3200His)	DNAH12 (Y3200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083577	NM_001366028.2(DNAH12):c.9568T>C (p.Tyr3190His)	DNAH12 (Y3190H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594990	NM_001366028.2(DNAH12):c.9538A>C (p.Lys3180Gln)	DNAH12 (K3180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402632	NM_001366028.2(DNAH12):c.6948+922=	DNAH12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3083576	NM_001366028.2(DNAH12):c.6911A>G (p.Lys2304Arg)	DNAH12 (K2304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267052	NM_001366028.2(DNAH12):c.6699G>C (p.Gln2233His)	DNAH12 (Q2233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083573	NM_001366028.2(DNAH12):c.6523T>G (p.Phe2175Val)	DNAH12 (F2175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272637	NM_001366028.2(DNAH12):c.6520C>A (p.His2174Asn)	DNAH12 (H2174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342229	NM_001366028.2(DNAH12):c.6419G>A (p.Arg2140His)	DNAH12 (R2140H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083572	NM_001366028.2(DNAH12):c.6418C>T (p.Arg2140Cys)	DNAH12 (R2140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248682	NM_001366028.2(DNAH12):c.6386G>C (p.Arg2129Thr)	DNAH12 (R2129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083571	NM_001366028.2(DNAH12):c.6364C>T (p.Arg2122Trp)	DNAH12 (R2122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272649	NM_001366028.2(DNAH12):c.6356G>A (p.Arg2119His)	DNAH12 (R2119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481481	NM_001366028.2(DNAH12):c.6355C>T (p.Arg2119Cys)	DNAH12 (R2119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378950	NM_001366028.2(DNAH12):c.6271A>G (p.Met2091Val)	DNAH12 (M2091V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369249	NM_001366028.2(DNAH12):c.6196G>C (p.Val2066Leu)	DNAH12 (V2066L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366935	NM_001366028.2(DNAH12):c.6181A>G (p.Ile2061Val)	DNAH12 (I2061V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083570	NM_001366028.2(DNAH12):c.6176T>C (p.Val2059Ala)	DNAH12 (V2059A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319484	NM_001366028.2(DNAH12):c.6172A>G (p.Met2058Val)	DNAH12 (M2058V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325200	NM_001366028.2(DNAH12):c.6010T>G (p.Cys2004Gly)	DNAH12 (C2004G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244640	NM_001366028.2(DNAH12):c.5996G>A (p.Arg1999Gln)	DNAH12 (R1999Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211084	NM_001366028.2(DNAH12):c.5885G>A (p.Arg1962His)	DNAH12 (R1962H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528004	NM_001366028.2(DNAH12):c.5861T>C (p.Ile1954Thr)	DNAH12 (I1954T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083569	NM_001366028.2(DNAH12):c.5839G>A (p.Ala1947Thr)	DNAH12 (A1947T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461348	NM_001366028.2(DNAH12):c.5794G>A (p.Asp1932Asn)	DNAH12 (D1932N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271893	NM_001366028.2(DNAH12):c.5752T>C (p.Ser1918Pro)	DNAH12 (S1918P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257629	NM_001366028.2(DNAH12):c.5740G>A (p.Gly1914Ser)	DNAH12 (G1914S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2514999	NM_001366028.2(DNAH12):c.5737A>G (p.Thr1913Ala)	DNAH12 (T1913A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464929	NM_001366028.2(DNAH12):c.5681C>T (p.Thr1894Met)	DNAH12 (T1894M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459161	NM_001366028.2(DNAH12):c.5663T>C (p.Met1888Thr)	DNAH12 (M1888T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519657	NM_001366028.2(DNAH12):c.5630A>T (p.Gln1877Leu)	DNAH12 (Q1877L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083568	NM_001366028.2(DNAH12):c.5585T>C (p.Val1862Ala)	DNAH12 (V1862A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251351	NM_001366028.2(DNAH12):c.5546A>G (p.Tyr1849Cys)	DNAH12 (Y1849C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335108	NM_001366028.2(DNAH12):c.5494C>T (p.Pro1832Ser)	DNAH12 (P1832S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285209	NM_001366028.2(DNAH12):c.5480A>T (p.Asp1827Val)	DNAH12 (D1827V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083567	NM_001366028.2(DNAH12):c.5477A>T (p.Asp1826Val)	DNAH12 (D1826V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552890	NM_001366028.2(DNAH12):c.5434C>T (p.Arg1812Cys)	DNAH12 (R1812C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272645	NM_001366028.2(DNAH12):c.5428G>T (p.Gly1810Cys)	DNAH12 (G1810C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298704	NM_001366028.2(DNAH12):c.5387T>C (p.Phe1796Ser)	DNAH12 (F1796S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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