"Ambry Genetics"[submitter] AND "ANKFN1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2240416	NM_001370326.1(ANKFN1):c.-88G>C	ANKFN1 (E2Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399186	NM_001370326.1(ANKFN1):c.58G>A (p.Gly20Arg)	ANKFN1 (G23R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328239	NM_001370326.1(ANKFN1):c.66A>T (p.Arg22Ser)	ANKFN1 (R22S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457764	NM_001370326.1(ANKFN1):c.250C>T (p.His84Tyr)	ANKFN1 (H84Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555210	NM_001370326.1(ANKFN1):c.257C>T (p.Ala86Val)	ANKFN1 (A18V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372362	NM_001370326.1(ANKFN1):c.283C>T (p.Arg95Cys)	ANKFN1 (R95C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220203	NM_001370326.1(ANKFN1):c.358A>G (p.Thr120Ala)	ANKFN1 (T120A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541183	NM_001370326.1(ANKFN1):c.373C>T (p.Leu125Phe)	ANKFN1 (L57F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207095	NM_001370326.1(ANKFN1):c.489C>G (p.Asp163Glu)	ANKFN1 (D163E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246469	NM_001370326.1(ANKFN1):c.526G>A (p.Asp176Asn)	ANKFN1 (D108N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300991	NM_001370326.1(ANKFN1):c.637A>G (p.Thr213Ala)	ANKFN1 (T216A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495206	NM_001370326.1(ANKFN1):c.659A>G (p.Glu220Gly)	ANKFN1 (E220G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545549	NM_001370326.1(ANKFN1):c.663G>T (p.Arg221Ser)	ANKFN1 (R153S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623137	NM_001370326.1(ANKFN1):c.800C>T (p.Ala267Val)	ANKFN1 (A199V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228435	NM_001370326.1(ANKFN1):c.1036G>T (p.Ala346Ser)	ANKFN1 (A278S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322264	NM_001370326.1(ANKFN1):c.1131A>T (p.Arg377Ser)	ANKFN1 (R309S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395491	NM_001370326.1(ANKFN1):c.1234C>A (p.Arg412Ser)	ANKFN1 (R412S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463012	NM_001370326.1(ANKFN1):c.1235G>A (p.Arg412His)	ANKFN1 (R412H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525089	NM_001370326.1(ANKFN1):c.1528A>C (p.Lys510Gln)	ANKFN1 (K513Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348963	NM_001370326.1(ANKFN1):c.1571C>T (p.Thr524Ile)	ANKFN1 (T524I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292138	NM_001370326.1(ANKFN1):c.1990A>G (p.Ser664Gly)	ANKFN1 (S596G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300196	NM_001370326.1(ANKFN1):c.2045T>C (p.Met682Thr)	ANKFN1 (M685T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216075	NM_001370326.1(ANKFN1):c.2077A>G (p.Ile693Val)	ANKFN1 (I693V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483522	NM_001370326.1(ANKFN1):c.2133G>C (p.Met711Ile)	ANKFN1 (M714I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 24