ClinVar for Gene (Select 1768) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3084074	NM_001370.2(DNAH6):c.9860C>T (p.Ala3287Val)	DNAH6 (A3287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084073	NM_001370.2(DNAH6):c.9846G>C (p.Gln3282His)	DNAH6 (Q3282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084072	NM_001370.2(DNAH6):c.9796A>G (p.Thr3266Ala)	DNAH6 (T3266A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084071	NM_001370.2(DNAH6):c.9679A>G (p.Thr3227Ala)	DNAH6 (T3227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084070	NM_001370.2(DNAH6):c.9458G>A (p.Arg3153His)	DNAH6 (R3153H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084069	NM_001370.2(DNAH6):c.9400G>T (p.Ala3134Ser)	DNAH6 (A3134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084068	NM_001370.2(DNAH6):c.9311C>G (p.Thr3104Arg)	DNAH6 (T3104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084067	NM_001370.2(DNAH6):c.9175G>A (p.Asp3059Asn)	DNAH6 (D3059N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3084065	NM_001370.2(DNAH6):c.8707C>A (p.Gln2903Lys)	DNAH6 (Q2903K)	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 3084063	NM_001370.2(DNAH6):c.8525T>C (p.Leu2842Ser)	DNAH6 (L2842S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084062	NM_001370.2(DNAH6):c.8466G>T (p.Lys2822Asn)	DNAH6 (K2822N)	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 3084060	NM_001370.2(DNAH6):c.8230G>A (p.Val2744Ile)	DNAH6 (V2744I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084059	NM_001370.2(DNAH6):c.8224G>A (p.Asp2742Asn)	DNAH6 (D2742N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084057	NM_001370.2(DNAH6):c.7970G>A (p.Arg2657His)	DNAH6 (R2657H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084056	NM_001370.2(DNAH6):c.7952G>A (p.Arg2651His)	DNAH6 (R2651H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084054	NM_001370.2(DNAH6):c.7757G>A (p.Arg2586Gln)	DNAH6 (R2586Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084053	NM_001370.2(DNAH6):c.7756C>T (p.Arg2586Trp)	DNAH6 (R2586W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084052	NM_001370.2(DNAH6):c.7697G>A (p.Ser2566Asn)	DNAH6 (S2566N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084051	NM_001370.2(DNAH6):c.7531G>A (p.Val2511Met)	DNAH6 (V483M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3084049	NM_001370.2(DNAH6):c.7104G>T (p.Leu2368Phe)	DNAH6 (L340F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084048	NM_001370.2(DNAH6):c.6905A>G (p.Lys2302Arg)	DNAH6 (K2302R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084046	NM_001370.2(DNAH6):c.6865G>A (p.Ala2289Thr)	DNAH6 (A2289T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084045	NM_001370.2(DNAH6):c.6643C>T (p.Pro2215Ser)	DNAH6 (P2215S +1 more)	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 3084043	NM_001370.2(DNAH6):c.625C>T (p.Pro209Ser)	DNAH6 (P209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084042	NM_001370.2(DNAH6):c.5891G>A (p.Cys1964Tyr)	DNAH6 (C1964Y)	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 3084040	NM_001370.2(DNAH6):c.551G>C (p.Arg184Pro)	DNAH6 (R184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3084037	NM_001370.2(DNAH6):c.4321G>A (p.Ala1441Thr)	DNAH6 (A1441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084036	NM_001370.2(DNAH6):c.4278A>C (p.Arg1426Ser)	DNAH6 (R1426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084035	NM_001370.2(DNAH6):c.4114A>G (p.Lys1372Glu)	DNAH6 (K1372E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084034	NM_001370.2(DNAH6):c.4103G>A (p.Gly1368Asp)	DNAH6 (G1368D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084033	NM_001370.2(DNAH6):c.3737C>G (p.Pro1246Arg)	DNAH6 (P1246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084032	NM_001370.2(DNAH6):c.3620C>T (p.Thr1207Ile)	DNAH6 (T1207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084031	NM_001370.2(DNAH6):c.3500A>G (p.Asn1167Ser)	DNAH6 (N1167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084030	NM_001370.2(DNAH6):c.3403G>A (p.Asp1135Asn)	DNAH6 (D1135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084029	NM_001370.2(DNAH6):c.3386A>G (p.Lys1129Arg)	DNAH6 (K1129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084028	NM_001370.2(DNAH6):c.2851G>A (p.Glu951Lys)	DNAH6 (E951K)	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 3084026	NM_001370.2(DNAH6):c.2606T>G (p.Phe869Cys)	DNAH6 (F869C)	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 3084024	NM_001370.2(DNAH6):c.2170C>T (p.Pro724Ser)	DNAH6 (P724S)	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 3084021	NM_001370.2(DNAH6):c.1886A>G (p.Glu629Gly)	DNAH6 (E629G)	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 3084019	NM_001370.2(DNAH6):c.1418G>A (p.Arg473Gln)	DNAH6 (R473Q)	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 3084017	NM_001370.2(DNAH6):c.12394G>A (p.Val4132Ile)	DNAH6 (V4132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084015	NM_001370.2(DNAH6):c.11987G>A (p.Gly3996Glu)	DNAH6 (G3996E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084014	NM_001370.2(DNAH6):c.11839G>A (p.Ala3947Thr)	DNAH6 (A3947T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084013	NM_001370.2(DNAH6):c.11710C>T (p.Arg3904Trp)	DNAH6 (R3904W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084012	NM_001370.2(DNAH6):c.11395G>A (p.Glu3799Lys)	DNAH6 (E3799K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084011	NM_001370.2(DNAH6):c.11204G>A (p.Gly3735Glu)	DNAH6 (G3735E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084010	NM_001370.2(DNAH6):c.10840C>T (p.Leu3614Phe)	DNAH6 (L3614F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084009	NM_001370.2(DNAH6):c.10541T>C (p.Ile3514Thr)	DNAH6 (I3514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084008	NM_001370.2(DNAH6):c.10493A>T (p.Lys3498Ile)	DNAH6 (K3498I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084006	NM_001370.2(DNAH6):c.10253G>T (p.Trp3418Leu)	DNAH6 (W3418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065450	NM_001370.2(DNAH6):c.10723G>A (p.Gly3575Arg)	DNAH6 (G3575R)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 45	GLikely pathogenic
Select item 3057488	NM_001370.2(DNAH6):c.2907G>A (p.Lys969=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 3055526	NM_001370.2(DNAH6):c.3647A>T (p.His1216Leu)	DNAH6 (H1216L)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GLikely benign
Select item 3052980	NM_001370.2(DNAH6):c.4926C>T (p.Tyr1642=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 3051715	NM_001370.2(DNAH6):c.8229+8G>A	DNAH6	Single nucleotide variant (intron variant)	DNAH6-related disorder	GLikely benign
Select item 3051033	NM_001370.2(DNAH6):c.4245C>T (p.Tyr1415=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
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 3048169	NM_001370.2(DNAH6):c.6843T>C (p.Ser2281=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
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 3046583	NM_001370.2(DNAH6):c.4399G>A (p.Gly1467Arg)	DNAH6 (G1467R)	Single nucleotide variant (missense variant)	DNAH6-related disorder	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 3043557	NM_001370.2(DNAH6):c.9808A>G (p.Ile3270Val)	DNAH6 (I3270V)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GBenign
Select item 3043377	NM_001370.2(DNAH6):c.8066G>A (p.Arg2689Gln)	DNAH6 (R2689Q)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GLikely benign
Select item 3043149	NM_001370.2(DNAH6):c.7975C>T (p.Arg2659Trp)	DNAH6 (R2659W)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GLikely benign
Select item 3041922	NM_001370.2(DNAH6):c.1924+9T>G	DNAH6	Single nucleotide variant (intron variant)	DNAH6-related disorder	GBenign
Select item 3041718	NM_001370.2(DNAH6):c.7678G>T (p.Val2560Leu)	DNAH6 (V2560L)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GLikely benign
Select item 3041626	NM_001370.2(DNAH6):c.1317-10del	DNAH6	Deletion (intron variant)	DNAH6-related disorder	GLikely benign
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 3040539	NM_001370.2(DNAH6):c.5241T>C (p.His1747=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 3040243	NM_001370.2(DNAH6):c.7957T>C (p.Tyr2653His)	DNAH6 (Y2653H)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GBenign
Select item 3039821	NM_001370.2(DNAH6):c.2868+7T>G	DNAH6	Single nucleotide variant (intron variant)	DNAH6-related disorder	GLikely benign
Select item 3039799	NM_001370.2(DNAH6):c.4497A>G (p.Ser1499=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 3038348	NM_001370.2(DNAH6):c.10241C>T (p.Pro3414Leu)	DNAH6 (P3414L)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GBenign
Select item 3037984	NM_001370.2(DNAH6):c.3934G>T (p.Val1312Leu)	DNAH6 (V1312L)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GBenign
Select item 3037684	NM_001370.2(DNAH6):c.11612-9A>G	DNAH6	Single nucleotide variant (intron variant)	DNAH6-related disorder	GLikely benign
Select item 3036369	NM_001370.2(DNAH6):c.6527C>G (p.Ser2176Cys)	DNAH6 (S197C +1 more)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GUncertain significance
Select item 3035034	NM_001370.2(DNAH6):c.3960T>C (p.Val1320=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
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 3033941	NM_001370.2(DNAH6):c.3144G>A (p.Val1048=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 3033452	NM_001370.2(DNAH6):c.3816G>A (p.Lys1272=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
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 3030445	NM_001370.2(DNAH6):c.752T>G (p.Phe251Cys)	DNAH6 (F251C)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GUncertain significance
Select item 3029735	NM_001370.2(DNAH6):c.8852-10A>C	DNAH6	Single nucleotide variant (intron variant)	DNAH6-related disorder	GLikely benign
Select item 2688958	NM_001370.2(DNAH6):c.4516A>G (p.Met1506Val)	DNAH6 (M1506V)	Single nucleotide variant (missense variant)	not provided +1 more	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 2651090	NM_001370.2(DNAH6):c.10480C>A (p.Leu3494Ile)	DNAH6 (L3494I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2651089	NM_001370.2(DNAH6):c.7707T>C (p.Arg2569=)	DNAH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651088	NM_001370.2(DNAH6):c.6502A>T (p.Met2168Leu)	DNAH6 (M189L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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