"DNAH6-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3049693	NM_001370.2(DNAH6):c.519C>T (p.His173=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
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 3047085	NM_001370.2(DNAH6):c.1248T>C (p.Tyr416=)	DNAH6	Single nucleotide variant (synonymous 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 767806	NM_001370.2(DNAH6):c.1509AGA[2] (p.Glu505del)	DNAH6 (E505del)	Microsatellite (inframe_deletion)	DNAH6-related disorder +1 more	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 3045980	NM_001370.2(DNAH6):c.1773G>A (p.Lys591=)	DNAH6	Single nucleotide variant (synonymous 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 3033996	NM_001370.2(DNAH6):c.2179A>G (p.Thr727Ala)	DNAH6 (T727A)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GBenign
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 402735	NM_001370.2(DNAH6):c.2547A>G (p.Gln849=)	DNAH6	Single nucleotide variant (synonymous variant)	not provided +2 more	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 3057488	NM_001370.2(DNAH6):c.2907G>A (p.Lys969=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
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 3055526	NM_001370.2(DNAH6):c.3647A>T (p.His1216Leu)	DNAH6 (H1216L)	Single nucleotide variant (missense 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 3037984	NM_001370.2(DNAH6):c.3934G>T (p.Val1312Leu)	DNAH6 (V1312L)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GBenign
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 3051033	NM_001370.2(DNAH6):c.4245C>T (p.Tyr1415=)	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 3039799	NM_001370.2(DNAH6):c.4497A>G (p.Ser1499=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 402737	NM_001370.2(DNAH6):c.4611C>T (p.Ile1537=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder +2 more	GBenign
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 402738	NM_001370.2(DNAH6):c.5081G>C (p.Gly1694Ala)	DNAH6 (G1694A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2629840	NM_001370.2(DNAH6):c.5194A>G (p.Met1732Val)	DNAH6 (M1732V)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GUncertain significance
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 1223056	NM_001370.2(DNAH6):c.5331G>A (p.Gly1777=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder +1 more	GBenign
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
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 3048169	NM_001370.2(DNAH6):c.6843T>C (p.Ser2281=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder	GLikely benign
Select item 402741	NM_001370.2(DNAH6):c.7353A>G (p.Thr2451=)	DNAH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 402742	NM_001370.2(DNAH6):c.7649T>C (p.Val2550Ala)	DNAH6 (V2550A)	Single nucleotide variant (missense variant)	not provided +2 more	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 3040243	NM_001370.2(DNAH6):c.7957T>C (p.Tyr2653His)	DNAH6 (Y2653H)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GBenign
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 3043377	NM_001370.2(DNAH6):c.8066G>A (p.Arg2689Gln)	DNAH6 (R2689Q)	Single nucleotide variant (missense 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 3029735	NM_001370.2(DNAH6):c.8852-10A>C	DNAH6	Single nucleotide variant (intron variant)	DNAH6-related disorder	GLikely benign
Select item 719231	NM_001370.2(DNAH6):c.9436A>G (p.Ser3146Gly)	DNAH6 (S3146G)	Single nucleotide variant (missense variant)	DNAH6-related disorder +1 more	GLikely benign
Select item 402744	NM_001370.2(DNAH6):c.9753G>A (p.Leu3251=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder +2 more	GBenign
Select item 708460	NM_001370.2(DNAH6):c.9807C>T (p.Ala3269=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder +1 more	GBenign/Likely 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 402747	NM_001370.2(DNAH6):c.10233C>G (p.Pro3411=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder +2 more	GBenign/Likely 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 2634833	NM_001370.2(DNAH6):c.10621C>T (p.Pro3541Ser)	DNAH6 (P3541S)	Single nucleotide variant (missense variant)	DNAH6-related disorder	GUncertain significance
Select item 402745	NM_001370.2(DNAH6):c.11359+5A>G	DNAH6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 402746	NM_001370.2(DNAH6):c.11430C>T (p.Ile3810=)	DNAH6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 790509	NM_001370.2(DNAH6):c.11542G>A (p.Gly3848Ser)	DNAH6 (G3848S)	Single nucleotide variant (missense variant)	DNAH6-related disorder +1 more	GBenign
Select item 717074	NM_001370.2(DNAH6):c.11561A>G (p.Asn3854Ser)	DNAH6 (N3854S)	Single nucleotide variant (missense variant)	DNAH6-related disorder +1 more	GLikely benign
Select item 3037684	NM_001370.2(DNAH6):c.11612-9A>G	DNAH6	Single nucleotide variant (intron variant)	DNAH6-related disorder	GLikely benign
Select item 1012948	NM_001370.2(DNAH6):c.11999-6T>C	DNAH6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 787768	NM_001370.2(DNAH6):c.12291A>G (p.Gln4097=)	DNAH6	Single nucleotide variant (synonymous variant)	DNAH6-related disorder +1 more	GBenign
Select item 719232	NM_001370.2(DNAH6):c.12352G>A (p.Ala4118Thr)	DNAH6 (A4118T)	Single nucleotide variant (missense variant)	DNAH6-related disorder +1 more	GLikely benign
Select item 787769	NM_001370.2(DNAH6):c.12419G>A (p.Arg4140Gln)	DNAH6 (R4140Q)	Single nucleotide variant (missense variant)	DNAH6-related disorder +1 more	GBenign

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Items: 55