"Ambry Genetics"[submitter] AND "DNAH17"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2553826	NM_173628.4(DNAH17):c.13346C>G (p.Ala4449Gly)	DNAH17, PGS1 (A4449G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350639	NM_173628.4(DNAH17):c.13346C>A (p.Ala4449Glu)	PGS1, DNAH17 (A4449E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210343	NM_173628.4(DNAH17):c.13346C>T (p.Ala4449Val)	PGS1, DNAH17 (A4449V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374844	NM_173628.4(DNAH17):c.13330A>G (p.Thr4444Ala)	PGS1, DNAH17 (T4444A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355990	NM_173628.4(DNAH17):c.13312T>C (p.Trp4438Arg)	DNAH17, PGS1 (W4438R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246516	NM_173628.4(DNAH17):c.13243C>T (p.Arg4415Cys)	PGS1, DNAH17 (R4415C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270779	NM_173628.4(DNAH17):c.13184G>A (p.Arg4395Gln)	DNAH17, PGS1 (R4395Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2325324	NM_173628.4(DNAH17):c.13096G>A (p.Ala4366Thr)	DNAH17 (A4366T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588448	NM_173628.4(DNAH17):c.13082G>A (p.Arg4361Gln)	DNAH17 (R4361Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349655	NM_173628.4(DNAH17):c.13063G>A (p.Glu4355Lys)	DNAH17 (E4355K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599014	NM_173628.4(DNAH17):c.13025A>G (p.Lys4342Arg)	DNAH17 (K4342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375317	NM_173628.4(DNAH17):c.13017G>A (p.Met4339Ile)	DNAH17 (M4339I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269845	NM_173628.4(DNAH17):c.13016T>C (p.Met4339Thr)	DNAH17 (M4339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599013	NM_173628.4(DNAH17):c.13015A>G (p.Met4339Val)	DNAH17 (M4339V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378682	NM_173628.4(DNAH17):c.13004T>C (p.Ile4335Thr)	DNAH17 (I4335T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454225	NM_173628.4(DNAH17):c.12908G>A (p.Arg4303His)	DNAH17 (R4303H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511650	NM_173628.4(DNAH17):c.12873G>A (p.Met4291Ile)	DNAH17 (M4291I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598838	NM_173628.4(DNAH17):c.12853C>T (p.Arg4285Trp)	DNAH17 (R4285W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544537	NM_173628.4(DNAH17):c.12832G>A (p.Val4278Met)	DNAH17 (V4278M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303252	NM_173628.4(DNAH17):c.12778C>G (p.Leu4260Val)	DNAH17 (L4260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483674	NM_173628.4(DNAH17):c.12737G>A (p.Arg4246His)	DNAH17 (R4246H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524563	NM_173628.4(DNAH17):c.12730G>A (p.Glu4244Lys)	DNAH17 (E4244K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600635	NM_173628.4(DNAH17):c.12719T>A (p.Ile4240Asn)	DNAH17 (I4240N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240047	NM_173628.4(DNAH17):c.12665C>T (p.Ala4222Val)	DNAH17 (A4222V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516244	NM_173628.4(DNAH17):c.12644C>G (p.Ala4215Gly)	DNAH17 (A4215G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2462721	NM_173628.4(DNAH17):c.12641T>A (p.Met4214Lys)	DNAH17 (M4214K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556492	NM_173628.4(DNAH17):c.12607G>A (p.Asp4203Asn)	DNAH17 (D4203N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370067	NM_173628.4(DNAH17):c.12580G>A (p.Glu4194Lys)	DNAH17 (E4194K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371737	NM_173628.4(DNAH17):c.12577C>T (p.Arg4193Cys)	DNAH17 (R4193C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207261	NM_173628.4(DNAH17):c.12548C>T (p.Thr4183Met)	DNAH17 (T4183M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482073	NM_173628.4(DNAH17):c.12500C>T (p.Thr4167Ile)	DNAH17 (T4167I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328013	NM_173628.4(DNAH17):c.12384C>G (p.Ile4128Met)	DNAH17 (I4128M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372024	NM_173628.4(DNAH17):c.12338C>T (p.Thr4113Met)	DNAH17 (T4113M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248448	NM_173628.4(DNAH17):c.12310A>G (p.Arg4104Gly)	DNAH17 (R4104G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551096	NM_173628.4(DNAH17):c.12293G>C (p.Trp4098Ser)	DNAH17 (W4098S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395507	NM_173628.4(DNAH17):c.12244C>T (p.Arg4082Cys)	DNAH17 (R4082C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491929	NM_173628.4(DNAH17):c.12149G>A (p.Arg4050Gln)	DNAH17 (R4050Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371441	NM_173628.4(DNAH17):c.12031C>G (p.Gln4011Glu)	DNAH17 (Q4011E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2522579	NM_173628.4(DNAH17):c.12014C>T (p.Ala4005Val)	DNAH17 (A4005V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286434	NM_173628.4(DNAH17):c.11981C>A (p.Pro3994His)	DNAH17 (P3994H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260746	NM_173628.4(DNAH17):c.11903C>T (p.Ala3968Val)	DNAH17 (A3968V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456334	NM_173628.4(DNAH17):c.11896A>C (p.Ile3966Leu)	DNAH17 (I3966L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473134	NM_173628.4(DNAH17):c.11761G>T (p.Ala3921Ser)	DNAH17 (A3921S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291514	NM_173628.4(DNAH17):c.11761G>A (p.Ala3921Thr)	DNAH17 (A3921T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305496	NM_173628.4(DNAH17):c.11719A>G (p.Asn3907Asp)	DNAH17 (N3907D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336161	NM_173628.4(DNAH17):c.11699T>C (p.Ile3900Thr)	DNAH17 (I3900T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359494	NM_173628.4(DNAH17):c.11642C>T (p.Pro3881Leu)	DNAH17 (P3881L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261405	NM_173628.4(DNAH17):c.11563G>A (p.Val3855Met)	DNAH17 (V3855M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378957	NM_173628.4(DNAH17):c.11439C>G (p.Ile3813Met)	DNAH17 (I3813M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214770	NM_173628.4(DNAH17):c.11371A>C (p.Ser3791Arg)	DNAH17 (S3791R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594213	NM_173628.4(DNAH17):c.11336C>T (p.Ala3779Val)	DNAH17 (A3779V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239606	NM_173628.4(DNAH17):c.11299G>A (p.Asp3767Asn)	DNAH17 (D3767N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337494	NM_173628.4(DNAH17):c.11170G>A (p.Glu3724Lys)	DNAH17 (E3724K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485765	NM_173628.4(DNAH17):c.11135A>C (p.Tyr3712Ser)	DNAH17 (Y3712S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226913	NM_173628.4(DNAH17):c.11105G>A (p.Arg3702Gln)	DNAH17 (R3702Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470512	NM_173628.4(DNAH17):c.11035C>T (p.Leu3679Phe)	DNAH17 (L3679F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364580	NM_173628.4(DNAH17):c.11020G>A (p.Val3674Ile)	DNAH17 (V3674I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2549659	NM_173628.4(DNAH17):c.10955G>A (p.Arg3652His)	DNAH17 (R3652H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256641	NM_173628.4(DNAH17):c.10891G>A (p.Glu3631Lys)	DNAH17 (E3631K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213240	NM_173628.4(DNAH17):c.10873C>T (p.His3625Tyr)	DNAH17 (H3625Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489086	NM_173628.4(DNAH17):c.10849G>C (p.Val3617Leu)	DNAH17 (V3617L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204194	NM_173628.4(DNAH17):c.10693G>A (p.Ala3565Thr)	DNAH17 (A3565T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300887	NM_173628.4(DNAH17):c.10675G>A (p.Glu3559Lys)	DNAH17 (E3559K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349702	NM_173628.4(DNAH17):c.10660A>G (p.Thr3554Ala)	DNAH17 (T3554A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469538	NM_173628.4(DNAH17):c.10642C>A (p.Leu3548Ile)	DNAH17 (L3548I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379439	NM_173628.4(DNAH17):c.10514C>T (p.Thr3505Met)	DNAH17 (T3505M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382378	NM_173628.4(DNAH17):c.10486G>A (p.Val3496Met)	DNAH17 (V3496M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213951	NM_173628.4(DNAH17):c.10468G>A (p.Gly3490Ser)	DNAH17 (G3490S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2388494	NM_173628.4(DNAH17):c.10306G>A (p.Glu3436Lys)	DNAH17 (E3436K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341697	NM_173628.4(DNAH17):c.10258C>T (p.Pro3420Ser)	DNAH17 (P3420S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402358	NM_173628.4(DNAH17):c.10181C>T (p.Pro3394Leu)	DNAH17 (P3394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620321	NM_173628.4(DNAH17):c.10120C>T (p.Arg3374Trp)	DNAH17 (R3374W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335071	NM_173628.4(DNAH17):c.10116A>C (p.Lys3372Asn)	DNAH17 (K3372N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310624	NM_173628.4(DNAH17):c.10069C>G (p.Leu3357Val)	DNAH17 (L3357V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251535	NM_173628.4(DNAH17):c.9985G>C (p.Gly3329Arg)	DNAH17 (G3329R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569781	NM_173628.4(DNAH17):c.9956G>C (p.Arg3319Thr)	DNAH17 (R3319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381561	NM_173628.4(DNAH17):c.9955A>G (p.Arg3319Gly)	DNAH17 (R3319G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570176	NM_173628.4(DNAH17):c.9796G>A (p.Glu3266Lys)	DNAH17 (E3266K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243492	NM_173628.4(DNAH17):c.9769G>A (p.Asp3257Asn)	DNAH17 (D3257N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523243	NM_173628.4(DNAH17):c.9760G>T (p.Val3254Phe)	DNAH17 (V3254F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395941	NM_173628.4(DNAH17):c.9757G>A (p.Glu3253Lys)	DNAH17 (E3253K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520558	NM_173628.4(DNAH17):c.9749G>A (p.Arg3250His)	DNAH17 (R3250H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367242	NM_173628.4(DNAH17):c.9647C>G (p.Ala3216Gly)	DNAH17 (A3216G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380063	NM_173628.4(DNAH17):c.9622C>T (p.His3208Tyr)	DNAH17 (H3208Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321069	NM_173628.4(DNAH17):c.9613G>A (p.Asp3205Asn)	DNAH17 (D3205N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465353	NM_173628.4(DNAH17):c.9555G>C (p.Lys3185Asn)	DNAH17 (K3185N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228661	NM_173628.4(DNAH17):c.9404C>T (p.Ala3135Val)	DNAH17 (A3135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601183	NM_173628.4(DNAH17):c.9361G>T (p.Ala3121Ser)	DNAH17 (A3121S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554724	NM_173628.4(DNAH17):c.9304G>C (p.Asp3102His)	DNAH17 (D3102H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508438	NM_173628.4(DNAH17):c.9284G>T (p.Ser3095Ile)	DNAH17 (S3095I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366193	NM_173628.4(DNAH17):c.9265A>T (p.Ile3089Phe)	DNAH17 (I3089F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359348	NM_173628.4(DNAH17):c.9262G>A (p.Gly3088Ser)	DNAH17 (G3088S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331703	NM_173628.4(DNAH17):c.9234G>C (p.Glu3078Asp)	DNAH17 (E3078D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553580	NM_173628.4(DNAH17):c.9230A>G (p.Asn3077Ser)	DNAH17 (N3077S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351496	NM_173628.4(DNAH17):c.9107C>T (p.Thr3036Met)	DNAH17 (T3036M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2609909	NM_173628.4(DNAH17):c.9053A>G (p.Lys3018Arg)	DNAH17 (K3018R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394541	NM_173628.4(DNAH17):c.9046A>G (p.Thr3016Ala)	DNAH17 (T3016A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2235245	NM_173628.4(DNAH17):c.9008G>C (p.Arg3003Thr)	DNAH17 (R3003T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482413	NM_173628.4(DNAH17):c.8980G>A (p.Val2994Met)	DNAH17 (V2994M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339156	NM_173628.4(DNAH17):c.8957C>T (p.Ser2986Phe)	DNAH17 (S2986F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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