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 3357979	NM_173628.4(DNAH17):c.6460G>A (p.Ala2154Thr)	DNAH17, DNAH17-AS1 (A2154T)	Single nucleotide variant (missense variant)	DNAH17-related disorder	GUncertain significance
Select item 3355014	NM_173628.4(DNAH17):c.6882C>G (p.Leu2294=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3352602	NM_173628.4(DNAH17):c.5607C>T (p.Tyr1869=)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNAH17-related disorder	GLikely benign
Select item 3272758	NM_173628.4(DNAH17):c.6027G>T (p.Glu2009Asp)	DNAH17, DNAH17-AS1 (E2009D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272756	NM_173628.4(DNAH17):c.4481G>A (p.Arg1494Gln)	DNAH17, LOC126862654 (R1494Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272753	NM_173628.4(DNAH17):c.6487A>G (p.Thr2163Ala)	DNAH17, DNAH17-AS1 (T2163A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272746	NM_173628.4(DNAH17):c.3060G>C (p.Trp1020Cys)	DNAH17, LOC126862656 (W1020C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272742	NM_173628.4(DNAH17):c.5753G>A (p.Cys1918Tyr)	DNAH17, DNAH17-AS1 (C1918Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272741	NM_173628.4(DNAH17):c.4284C>A (p.His1428Gln)	DNAH17, LOC126862654 (H1428Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272739	NM_173628.4(DNAH17):c.2099C>T (p.Ala700Val)	DNAH17, LOC126862657 (A700V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272734	NM_173628.4(DNAH17):c.7120G>A (p.Glu2374Lys)	DNAH17, DNAH17-AS1 (E2374K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272733	NM_173628.4(DNAH17):c.5387G>A (p.Arg1796Gln)	DNAH17, DNAH17-AS1 (R1796Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272731	NM_173628.4(DNAH17):c.6238G>A (p.Val2080Met)	DNAH17, DNAH17-AS1 (V2080M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272728	NM_173628.4(DNAH17):c.7018C>A (p.Pro2340Thr)	DNAH17, DNAH17-AS1 (P2340T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272726	NM_173628.4(DNAH17):c.6020G>A (p.Cys2007Tyr)	DNAH17, DNAH17-AS1 (C2007Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272724	NM_173628.4(DNAH17):c.5048C>T (p.Pro1683Leu)	DNAH17, DNAH17-AS1 (P1683L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272723	NM_173628.4(DNAH17):c.5623G>A (p.Glu1875Lys)	DNAH17-AS1, DNAH17 (E1875K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272717	NM_173628.4(DNAH17):c.6412C>G (p.Leu2138Val)	DNAH17, DNAH17-AS1 (L2138V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272712	NM_173628.4(DNAH17):c.5032A>G (p.Thr1678Ala)	DNAH17, DNAH17-AS1 (T1678A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272703	NM_173628.4(DNAH17):c.6463G>A (p.Val2155Met)	DNAH17, DNAH17-AS1 (V2155M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272700	NM_173628.4(DNAH17):c.13289G>A (p.Arg4430His)	DNAH17, PGS1 (R4430H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272699	NM_173628.4(DNAH17):c.6245G>A (p.Arg2082Gln)	DNAH17, DNAH17-AS1 (R2082Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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=)	DNAH17, LOC126862654	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)	not provided	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	GLikely 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	GLikely benign
Select item 2648362	NM_173628.4(DNAH17):c.6462C>T (p.Ala2154=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	not provided	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)	not provided	GLikely benign

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