DNAH6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 669574	NM_003849.3(SUCLG1):c.-364T>C	DNAH6, SUCLG1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 673189	NM_003849.3(SUCLG1):c.-536A>C	DNAH6, LOC129934179 +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 2491930	NM_001370.2(DNAH6):c.25G>A (p.Glu9Lys)	DNAH6 (E9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084061	NM_001370.2(DNAH6):c.82A>C (p.Asn28His)	DNAH6 (N28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380913	NM_001370.2(DNAH6):c.105A>T (p.Arg35Ser)	DNAH6 (R35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483289	NM_001370.2(DNAH6):c.119C>T (p.Thr40Ile)	DNAH6 (T40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084020	NM_001370.2(DNAH6):c.161G>C (p.Arg54Thr)	DNAH6 (R54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349731	NM_001370.2(DNAH6):c.163C>A (p.His55Asn)	DNAH6 (H55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782980	NM_001370.2(DNAH6):c.163C>T (p.His55Tyr)	DNAH6 (H55Y)	Single nucleotide variant (missense variant)	DNAH6-related disorder +1 more	GBenign/Likely benign
Select item 2231640	NM_001370.2(DNAH6):c.191G>C (p.Arg64Thr)	DNAH6 (R64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265934	NM_001370.2(DNAH6):c.226-59A>C	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2303685	NM_001370.2(DNAH6):c.239T>C (p.Val80Ala)	DNAH6 (V80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303686	NM_001370.2(DNAH6):c.251A>T (p.His84Leu)	DNAH6 (H84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084027	NM_001370.2(DNAH6):c.284G>A (p.Arg95Gln)	DNAH6 (R95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783979	NM_001370.2(DNAH6):c.321A>C (p.Pro107=)	DNAH6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2602916	NM_001370.2(DNAH6):c.358A>C (p.Thr120Pro)	DNAH6 (T120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1281178	NM_001370.2(DNAH6):c.400-21dup	DNAH6	Duplication (intron variant)	not provided	GBenign
Select item 1271750	NM_001370.2(DNAH6):c.400-22_400-21dup	DNAH6	Duplication (intron variant)	not provided	GBenign
Select item 402731	NM_001370.2(DNAH6):c.421G>A (p.Val141Met)	DNAH6 (V141M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2462267	NM_001370.2(DNAH6):c.461T>C (p.Ile154Thr)	DNAH6 (I154T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084038	NM_001370.2(DNAH6):c.518A>G (p.His173Arg)	DNAH6 (H173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049693	NM_001370.2(DNAH6):c.519C>T (p.His173=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 3084040	NM_001370.2(DNAH6):c.551G>C (p.Arg184Pro)	DNAH6 (R184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300795	NM_001370.2(DNAH6):c.571A>G (p.Lys191Glu)	DNAH6 (K191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588966	NM_001370.2(DNAH6):c.580C>T (p.Arg194Cys)	DNAH6 (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084041	NM_001370.2(DNAH6):c.581G>T (p.Arg194Leu)	DNAH6 (R194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084043	NM_001370.2(DNAH6):c.625C>T (p.Pro209Ser)	DNAH6 (P209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084044	NM_001370.2(DNAH6):c.637A>G (p.Ile213Val)	DNAH6 (I213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1261421	NM_001370.2(DNAH6):c.662+51T>G	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221478	NM_001370.2(DNAH6):c.662+160C>A	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234299	NM_001370.2(DNAH6):c.663-220T>C	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3084050	NM_001370.2(DNAH6):c.746T>C (p.Ile249Thr)	DNAH6 (I249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030445	NM_001370.2(DNAH6):c.752T>G (p.Phe251Cys)	DNAH6 (F251C)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GUncertain significance
Select item 2688957	NM_001370.2(DNAH6):c.757G>A (p.Glu253Lys)	DNAH6 (E253K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2361647	NM_001370.2(DNAH6):c.767G>A (p.Arg256Gln)	DNAH6 (R256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402732	NM_001370.2(DNAH6):c.786G>A (p.Leu262=)	DNAH6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2205676	NM_001370.2(DNAH6):c.862A>G (p.Asn288Asp)	DNAH6 (N288D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084064	NM_001370.2(DNAH6):c.868C>T (p.Arg290Cys)	DNAH6 (R290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512983	NM_001370.2(DNAH6):c.869G>A (p.Arg290His)	DNAH6 (R290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402733	NM_001370.2(DNAH6):c.873C>T (p.Ser291=)	DNAH6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3084066	NM_001370.2(DNAH6):c.913T>G (p.Leu305Val)	DNAH6 (L305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372648	NM_001370.2(DNAH6):c.938G>A (p.Arg313Gln)	DNAH6 (R313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604234	NM_001370.2(DNAH6):c.943G>A (p.Ala315Thr)	DNAH6 (A315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307738	NM_001370.2(DNAH6):c.1138C>T (p.Arg380Cys)	DNAH6 (R380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370758	NM_001370.2(DNAH6):c.1139G>A (p.Arg380His)	DNAH6 (R380H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1283783	NM_001370.2(DNAH6):c.1186+99A>G	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265733	NM_001370.2(DNAH6):c.1186+157G>A	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047085	NM_001370.2(DNAH6):c.1248T>C (p.Tyr416=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 1282417	NM_001370.2(DNAH6):c.1316+132A>T	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041626	NM_001370.2(DNAH6):c.1317-10del	DNAH6	Deletion (intron variant)	DNAH6-related disorder	GLikely benign
Select item 2286172	NM_001370.2(DNAH6):c.1324C>T (p.Arg442Cys)	DNAH6 (R442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401859	NM_001370.2(DNAH6):c.1325G>A (p.Arg442His)	DNAH6 (R442H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084018	NM_001370.2(DNAH6):c.1378G>A (p.Val460Ile)	DNAH6 (V460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348601	NM_001370.2(DNAH6):c.1417C>G (p.Arg473Gly)	DNAH6 (R473G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084019	NM_001370.2(DNAH6):c.1418G>A (p.Arg473Gln)	DNAH6 (R473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1250916	NM_001370.2(DNAH6):c.1485+166T>C	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 767806	NM_001370.2(DNAH6):c.1509AGA[2] (p.Glu505del)	DNAH6 (E505del)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 2550097	NM_001370.2(DNAH6):c.1535T>G (p.Met512Arg)	DNAH6 (M512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486397	NM_001370.2(DNAH6):c.1585T>C (p.Ser529Pro)	DNAH6 (S529P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267159	NM_001370.2(DNAH6):c.1603-143G>A	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2476365	NM_001370.2(DNAH6):c.1618G>T (p.Ala540Ser)	DNAH6 (A540S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457188	NM_001370.2(DNAH6):c.1663G>A (p.Val555Met)	DNAH6 (V555M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032839	NM_001370.2(DNAH6):c.1673C>A (p.Ser558Ter)	DNAH6 (S558*)	Single nucleotide variant (nonsense)	DNAH6-related disorder	GUncertain significance
Select item 2272066	NM_001370.2(DNAH6):c.1733G>C (p.Gly578Ala)	DNAH6 (G578A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325442	NM_001370.2(DNAH6):c.1745G>A (p.Ser582Asn)	DNAH6 (S582N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045980	NM_001370.2(DNAH6):c.1773G>A (p.Lys591=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 2485120	NM_001370.2(DNAH6):c.1805A>G (p.Glu602Gly)	DNAH6 (E602G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 402734	NM_001370.2(DNAH6):c.1818C>A (p.Ala606=)	DNAH6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2376014	NM_001370.2(DNAH6):c.1819G>A (p.Ala607Thr)	DNAH6 (A607T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357723	NM_001370.2(DNAH6):c.1834C>T (p.Arg612Cys)	DNAH6 (R612C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359192	NM_001370.2(DNAH6):c.1835G>A (p.Arg612His)	DNAH6 (R612H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084021	NM_001370.2(DNAH6):c.1886A>G (p.Glu629Gly)	DNAH6 (E629G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041922	NM_001370.2(DNAH6):c.1924+9T>G	DNAH6	Single nucleotide variant (intron variant)	DNAH6-related disorder	GBenign
Select item 1294627	NM_001370.2(DNAH6):c.1924+187T>C	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2568851	NM_001370.2(DNAH6):c.1970A>T (p.His657Leu)	DNAH6 (H657L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084023	NM_001370.2(DNAH6):c.2030G>A (p.Arg677Lys)	DNAH6 (R677K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1221610	NM_001370.2(DNAH6):c.2076+16A>G	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234602	NM_001370.2(DNAH6):c.2077-98G>A	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2289964	NM_001370.2(DNAH6):c.2099G>A (p.Arg700His)	DNAH6 (R700H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219782	NM_001370.2(DNAH6):c.2150A>G (p.Glu717Gly)	DNAH6 (E717G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084024	NM_001370.2(DNAH6):c.2170C>T (p.Pro724Ser)	DNAH6 (P724S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033996	NM_001370.2(DNAH6):c.2179A>G (p.Thr727Ala)	DNAH6 (T727A)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GBenign
Select item 1281707	NM_001370.2(DNAH6):c.2229+139C>G	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2293695	NM_001370.2(DNAH6):c.2270T>C (p.Met757Thr)	DNAH6 (M757T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041239	NM_001370.2(DNAH6):c.2290T>C (p.Tyr764His)	DNAH6 (Y764H)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GBenign
Select item 2591080	NM_001370.2(DNAH6):c.2360G>A (p.Arg787Gln)	DNAH6 (R787Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084025	NM_001370.2(DNAH6):c.2458A>G (p.Asn820Asp)	DNAH6 (N820D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258402	NM_001370.2(DNAH6):c.2481+29A>C	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246505	NM_001370.2(DNAH6):c.2481+194dup	DNAH6	Duplication (intron variant)	not provided	GBenign
Select item 1279538	NM_001370.2(DNAH6):c.2482-202G>A	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2232419	NM_001370.2(DNAH6):c.2490G>T (p.Gln830His)	DNAH6 (Q830H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394008	NM_001370.2(DNAH6):c.2491A>G (p.Ile831Val)	DNAH6 (I831V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342646	NM_001370.2(DNAH6):c.2530A>G (p.Ile844Val)	DNAH6 (I844V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402735	NM_001370.2(DNAH6):c.2547A>G (p.Gln849=)	DNAH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3084026	NM_001370.2(DNAH6):c.2606T>G (p.Phe869Cys)	DNAH6 (F869C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264385	NM_001370.2(DNAH6):c.2610+52G>A	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266940	NM_001370.2(DNAH6):c.2610+100G>A	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286393	NM_001370.2(DNAH6):c.2610+110G>A	DNAH6	Single nucleotide variant (intron variant)	not provided	GBenign

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