Related gene-specific medical variations for Gene (Select 8632) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3083765	NM_173628.4(DNAH17):c.7631A>T (p.His2544Leu)	DNAH17, LOC130061846 (H2544L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083762	NM_173628.4(DNAH17):c.7223C>G (p.Pro2408Arg)	DNAH17, DNAH17-AS1 (P2408R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083761	NM_173628.4(DNAH17):c.7160A>G (p.Lys2387Arg)	DNAH17, DNAH17-AS1 (K2387R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083760	NM_173628.4(DNAH17):c.7078G>A (p.Gly2360Ser)	DNAH17, DNAH17-AS1 (G2360S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083759	NM_173628.4(DNAH17):c.7048T>G (p.Tyr2350Asp)	DNAH17, DNAH17-AS1 (Y2350D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083758	NM_173628.4(DNAH17):c.6416A>G (p.Lys2139Arg)	DNAH17, DNAH17-AS1 (K2139R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083757	NM_173628.4(DNAH17):c.6238G>T (p.Val2080Leu)	DNAH17, DNAH17-AS1 (V2080L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083756	NM_173628.4(DNAH17):c.6227C>G (p.Pro2076Arg)	DNAH17, DNAH17-AS1 (P2076R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083755	NM_173628.4(DNAH17):c.6104A>G (p.Lys2035Arg)	DNAH17, DNAH17-AS1 (K2035R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083753	NM_173628.4(DNAH17):c.6014C>T (p.Thr2005Ile)	DNAH17, DNAH17-AS1 (T2005I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083752	NM_173628.4(DNAH17):c.6014C>G (p.Thr2005Ser)	DNAH17, DNAH17-AS1 (T2005S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083751	NM_173628.4(DNAH17):c.6005C>T (p.Thr2002Ile)	DNAH17, DNAH17-AS1 (T2002I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083749	NM_173628.4(DNAH17):c.5450C>T (p.Thr1817Met)	DNAH17, DNAH17-AS1 (T1817M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083748	NM_173628.4(DNAH17):c.5410G>A (p.Asp1804Asn)	DNAH17, DNAH17-AS1 (D1804N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083747	NM_173628.4(DNAH17):c.5239G>A (p.Ala1747Thr)	DNAH17, DNAH17-AS1 (A1747T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083746	NM_173628.4(DNAH17):c.5057A>G (p.Gln1686Arg)	DNAH17, DNAH17-AS1 (Q1686R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083742	NM_173628.4(DNAH17):c.4687T>A (p.Cys1563Ser)	DNAH17, LOC126862654 (C1563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083741	NM_173628.4(DNAH17):c.4442C>T (p.Thr1481Met)	DNAH17, LOC126862654 (T1481M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3083740	NM_173628.4(DNAH17):c.4265G>A (p.Ser1422Asn)	DNAH17, LOC126862654 (S1422N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083727	NM_173628.4(DNAH17):c.3022T>C (p.Tyr1008His)	DNAH17, LOC126862656 (Y1008H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083726	NM_173628.4(DNAH17):c.2993T>G (p.Leu998Arg)	DNAH17, LOC126862656 (L998R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083715	NM_173628.4(DNAH17):c.2072A>G (p.Gln691Arg)	DNAH17, LOC126862657 (Q691R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083706	NM_173628.4(DNAH17):c.13219T>A (p.Phe4407Ile)	DNAH17, PGS1 (F4407I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3083705	NM_173628.4(DNAH17):c.13216A>G (p.Ile4406Val)	DNAH17, PGS1 (I4406V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3075982	NM_173628.4(DNAH17):c.7020dup (p.Asp2341fs)	DNAH17, DNAH17-AS1 (D2341fs)	Duplication (frameshift variant)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 3056843	NM_173628.4(DNAH17):c.6492C>T (p.Cys2164=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3055422	NM_173628.4(DNAH17):c.5191-10T>C	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GBenign
Select item 3053933	NM_173628.4(DNAH17):c.5739C>T (p.Ala1913=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely benign
Select item 3053462	NM_173628.4(DNAH17):c.5544C>T (p.Pro1848=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely benign
Select item 3051638	NM_173628.4(DNAH17):c.4296G>A (p.Pro1432=)	DNAH17, LOC126862654	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3051349	NM_173628.4(DNAH17):c.5238C>T (p.Asn1746=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely benign
Select item 3050531	NM_173628.4(DNAH17):c.5640+6C>T	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely benign
Select item 3049520	NM_173628.4(DNAH17):c.5115G>A (p.Thr1705=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GBenign
Select item 3049256	NM_173628.4(DNAH17):c.13183C>T (p.Arg4395Trp)	DNAH17, PGS1 (R4395W)	Single nucleotide variant (missense variant +2 more)	DNAH17-related disorder	GLikely benign
Select item 3049210	NM_173628.4(DNAH17):c.5376C>T (p.Asp1792=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely benign
Select item 3049087	NM_173628.4(DNAH17):c.7011C>T (p.Thr2337=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3048062	NM_173628.4(DNAH17):c.6669+4C>T	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	DNAH17-related disorder	GLikely benign
Select item 3047841	NM_173628.4(DNAH17):c.5676G>A (p.Thr1892=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely benign
Select item 3045958	NM_173628.4(DNAH17):c.6051C>T (p.Tyr2017=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3045420	NM_173628.4(DNAH17):c.7633A>G (p.Met2545Val)	DNAH17, LOC130061846 (M2545V)	Single nucleotide variant (missense variant)	DNAH17-related disorder	GBenign
Select item 3044026	NM_173628.4(DNAH17):c.6801C>T (p.Ala2267=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3042799	NM_173628.4(DNAH17):c.3018G>A (p.Leu1006=)	DNAH17, LOC126862656	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3042078	NM_173628.4(DNAH17):c.7041C>T (p.Tyr2347=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3041997	NM_173628.4(DNAH17):c.6469C>T (p.Leu2157=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3041515	NM_173628.4(DNAH17):c.5345C>T (p.Thr1782Ile)	DNAH17, DNAH17-AS1 (T1782I)	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GBenign
Select item 3041473	NM_173628.4(DNAH17):c.6195C>T (p.Pro2065=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3040525	NM_173628.4(DNAH17):c.7432C>T (p.Leu2478=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3040433	NM_173628.4(DNAH17):c.3114+5G>A	DNAH17, LOC126862656	Single nucleotide variant (intron variant)	DNAH17-related disorder	GLikely benign
Select item 3040118	NM_173628.4(DNAH17):c.5922C>T (p.Val1974=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3039803	NM_173628.4(DNAH17):c.5118C>T (p.Thr1706=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely benign
Select item 3039643	NM_173628.4(DNAH17):c.7642C>A (p.Arg2548=)	DNAH17, LOC130061846	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3039523	NM_173628.4(DNAH17):c.5545G>A (p.Ala1849Thr)	DNAH17, DNAH17-AS1 (A1849T)	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GBenign
Select item 3039435	NM_173628.4(DNAH17):c.5314G>A (p.Val1772Met)	DNAH17, DNAH17-AS1 (V1772M)	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GBenign
Select item 3038814	NM_173628.4(DNAH17):c.5323-9A>T	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely benign
Select item 3038260	NM_173628.4(DNAH17):c.4539C>G (p.Leu1513=)	DNAH17, LOC126862654	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3038045	NM_173628.4(DNAH17):c.6251G>A (p.Arg2084Gln)	DNAH17, DNAH17-AS1 (R2084Q)	Single nucleotide variant (missense variant)	DNAH17-related disorder	GBenign
Select item 3037578	NM_173628.4(DNAH17):c.4114-8dup	DNAH17, LOC126862655	Duplication (intron variant)	DNAH17-related disorder	GLikely benign
Select item 3037336	NM_173628.4(DNAH17):c.5862C>T (p.Ala1954=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3035783	NM_173628.4(DNAH17):c.3093C>T (p.Thr1031=)	DNAH17, LOC126862656	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3035385	NM_173628.4(DNAH17):c.6081G>A (p.Val2027=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3035364	NM_173628.4(DNAH17):c.2967G>A (p.Arg989=)	DNAH17, LOC126862656	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3034383	NM_173628.4(DNAH17):c.6729C>T (p.Phe2243=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3034340	NM_173628.4(DNAH17):c.5037C>T (p.Tyr1679=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GBenign
Select item 3033897	NM_024419.5(PGS1):c.*11-158G>A	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +1 more)	PGS1-related disorder	GLikely benign
Select item 3033384	NM_173628.4(DNAH17):c.3109G>C (p.Glu1037Gln)	DNAH17, LOC126862656 (E1037Q)	Single nucleotide variant (missense variant)	DNAH17-related disorder	GLikely benign
Select item 3032922	NM_173628.4(DNAH17):c.6818+1G>A	DNAH17, DNAH17-AS1	Single nucleotide variant (splice donor variant)	DNAH17-related disorder	GLikely pathogenic
Select item 3026197	NM_173628.4(DNAH17):c.4518C>T (p.Ser1506=)	LOC126862654, DNAH17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672712	NM_173628.4(DNAH17):c.6542-6C>T	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	DNAH17-related disorder +1 more	GBenign
Select item 2648369	NM_173628.4(DNAH17):c.4200C>T (p.Ile1400=)	DNAH17, LOC126862655	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648368	NM_173628.4(DNAH17):c.5322+8C>T	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2648367	NM_173628.4(DNAH17):c.5454G>A (p.Pro1818=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2648366	NM_173628.4(DNAH17):c.5478T>G (p.Thr1826=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2648365	NM_173628.4(DNAH17):c.5508C>T (p.Ser1836=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2648364	NM_173628.4(DNAH17):c.6270+4G>A	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648363	NM_173628.4(DNAH17):c.6420C>A (p.Ser2140=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2648362	NM_173628.4(DNAH17):c.6462C>T (p.Ala2154=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2648361	NM_173628.4(DNAH17):c.7398G>A (p.Gly2466=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648343	NM_024419.5(PGS1):c.*11-44C>A	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	DNAH17-related disorder +1 more	GLikely benign
Select item 2648342	NM_173628.4(DNAH17):c.13296C>T (p.Arg4432=)	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2648341	NM_173628.4(DNAH17):c.13365C>T (p.Ala4455=)	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2630533	NM_173628.4(DNAH17):c.5562_5563del (p.Glu1855fs)	DNAH17, DNAH17-AS1 (E1855fs)	Deletion (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely pathogenic
Select item 2622838	NM_173628.4(DNAH17):c.5106C>G (p.Ile1702Met)	DNAH17, DNAH17-AS1 (I1702M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622721	NM_173628.4(DNAH17):c.4642G>A (p.Gly1548Ser)	DNAH17, LOC126862654 (G1548S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621267	NM_173628.4(DNAH17):c.6135G>T (p.Gln2045His)	DNAH17, DNAH17-AS1 (Q2045H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619035	NM_173628.4(DNAH17):c.7233T>G (p.Asp2411Glu)	DNAH17, DNAH17-AS1 (D2411E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608180	NM_173628.4(DNAH17):c.4532C>T (p.Thr1511Ile)	DNAH17, LOC126862654 (T1511I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607285	NM_173628.4(DNAH17):c.2099C>A (p.Ala700Glu)	DNAH17, LOC126862657 (A700E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595234	NM_173628.4(DNAH17):c.3086C>T (p.Pro1029Leu)	DNAH17, LOC126862656 (P1029L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582766	NM_173628.4(DNAH17):c.7752+2T>A	DNAH17	Single nucleotide variant (splice donor variant)	Spermatogenic failure 39	GLikely pathogenic
Select item 2578800	NM_173628.4(DNAH17):c.2958C>A (p.Ser986=)	DNAH17, LOC126862656	Single nucleotide variant (synonymous variant)	DNAH17-related disorder +1 more	GLikely benign
Select item 2559656	NM_173628.4(DNAH17):c.4293C>A (p.His1431Gln)	DNAH17, LOC126862654 (H1431Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556797	NM_173628.4(DNAH17):c.4139C>A (p.Thr1380Lys)	DNAH17, LOC126862655 (T1380K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2550532	NM_173628.4(DNAH17):c.6785T>A (p.Leu2262His)	DNAH17, DNAH17-AS1 (L2262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549069	NM_173628.4(DNAH17):c.6657G>A (p.Met2219Ile)	DNAH17, DNAH17-AS1 (M2219I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536408	NM_173628.4(DNAH17):c.6142A>G (p.Met2048Val)	DNAH17, DNAH17-AS1 (M2048V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525285	NM_173628.4(DNAH17):c.6709C>T (p.Arg2237Cys)	DNAH17, DNAH17-AS1 (R2237C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519019	NM_173628.4(DNAH17):c.4494C>G (p.His1498Gln)	DNAH17, LOC126862654 (H1498Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508479	NM_173628.4(DNAH17):c.6026A>G (p.Glu2009Gly)	DNAH17, DNAH17-AS1 (E2009G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499678	NM_173628.4(DNAH17):c.6389C>T (p.Ala2130Val)	DNAH17, DNAH17-AS1 +1 more (A2130V)	Single nucleotide variant (non-coding transcript variant +1 more)	Spermatogenic failure 39	GUncertain significance

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