PIH1D3 - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2970368	NM_173494.2(DNAAF6):c.25G>C (p.Glu9Gln)	DNAAF6 (E9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683168	NM_173494.2(DNAAF6):c.31A>C (p.Met11Leu)	DNAAF6 (M11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683169	NM_173494.2(DNAAF6):c.53C>T (p.Ser18Phe)	DNAAF6 (S18F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770143	NM_173494.2(DNAAF6):c.130G>C (p.Glu44Gln)	DNAAF6 (E44Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120640	NM_173494.2(DNAAF6):c.140C>A (p.Ser47Tyr)	DNAAF6 (S47Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004808	NM_173494.2(DNAAF6):c.146A>G (p.Tyr49Cys)	DNAAF6 (Y49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047953	NM_173494.2(DNAAF6):c.154-3C>G	DNAAF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1683171	NM_173494.2(DNAAF6):c.166T>C (p.Ser56Pro)	DNAAF6 (S56P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947816	NM_173494.2(DNAAF6):c.187C>T (p.Pro63Ser)	DNAAF6 (P63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683172	NM_173494.2(DNAAF6):c.198T>G (p.Ile66Met)	DNAAF6 (I66M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962848	NM_173494.2(DNAAF6):c.203C>A (p.Pro68Gln)	DNAAF6 (P68Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025442	NM_173494.2(DNAAF6):c.217G>A (p.Glu73Lys)	DNAAF6 (E73K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708214	NM_173494.2(DNAAF6):c.227-1G>A	DNAAF6	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3272537	NM_173494.2(DNAAF6):c.233C>G (p.Pro78Arg)	DNAAF6 (P78R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 917481	NM_173494.2(DNAAF6):c.290G>T (p.Gly97Val)	DNAAF6 (G97V)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 2009530	NM_173494.2(DNAAF6):c.293C>G (p.Ala98Gly)	DNAAF6 (A98G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870123	NM_173494.2(DNAAF6):c.322_332del (p.Glu108Valfs)	DNAAF6	Deletion (splice donor variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 375563	NM_173494.2(DNAAF6):c.355C>T (p.Gln119Ter)	DNAAF6 (Q119*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 375562	NM_173494.2(DNAAF6):c.357_363del (p.Val120fs)	DNAAF6 (V120fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 2997680	NM_173494.2(DNAAF6):c.384G>A (p.Gly128=)	DNAAF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2778413	NM_173494.2(DNAAF6):c.429+1G>T	DNAAF6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1683173	NM_173494.2(DNAAF6):c.439A>G (p.Lys147Glu)	DNAAF6 (K147E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235399	NM_173494.2(DNAAF6):c.455A>T (p.Asn152Ile)	DNAAF6 (N152I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2841345	NM_173494.2(DNAAF6):c.472A>G (p.Ile158Val)	DNAAF6 (I158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562215	NM_173494.2(DNAAF6):c.502C>T (p.Arg168Cys)	DNAAF6 (R168C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1683174	NM_173494.2(DNAAF6):c.590_598del (p.Thr197_Glu199del)	DNAAF6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2035339	NM_173494.2(DNAAF6):c.620A>C (p.Glu207Ala)	DNAAF6 (E207A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683167	NC_000023.10:g.(?_106456106)_(106486528_?)del	DNAAF6	Deletion	not provided	GPathogenic
Select item 1683166	NC_000023.10:g.(?_106456106)_(106462219_?)del	DNAAF6	Deletion	not provided	GPathogenic

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Items: 29