"PreventionGenetics, part of Exact Sciences"[submitter] AND "ANKFY1"[g - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046132	NM_001330063.2(ANKFY1):c.*10C>T	ANKFY1	Single nucleotide variant (3 prime UTR variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3047657	NM_001330063.2(ANKFY1):c.3171C>T (p.Ala1057=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3055031	NM_001330063.2(ANKFY1):c.3140-9G>T	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	GLikely benign
Select item 3035702	NM_001330063.2(ANKFY1):c.3024A>C (p.Ser1008=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3058380	NM_001330063.2(ANKFY1):c.2997C>G (p.Ala999=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3043858	NM_001330063.2(ANKFY1):c.2997C>T (p.Ala999=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3031176	NM_001330063.2(ANKFY1):c.2781T>C (p.Leu927=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 2411949	NM_001330063.2(ANKFY1):c.2584G>A (p.Gly862Arg)	ANKFY1, LOC126862466 (G862R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3049397	NM_001330063.2(ANKFY1):c.2286A>G (p.Glu762=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 1182333	NM_001330063.2(ANKFY1):c.2181G>A (p.Thr727=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder +1 more	GBenign
Select item 3046649	NM_001330063.2(ANKFY1):c.2030G>A (p.Arg677Gln)	ANKFY1 (R677Q +2 more)	Single nucleotide variant (missense variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3048184	NM_001330063.2(ANKFY1):c.1840G>A (p.Ala614Thr)	ANKFY1 (A614T +1 more)	Single nucleotide variant (missense variant +1 more)	ANKFY1-related disorder	GBenign
Select item 3042059	NM_001330063.2(ANKFY1):c.1809G>A (p.Thr603=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GBenign
Select item 3046690	NM_001330063.2(ANKFY1):c.1593C>A (p.Ala531=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3051158	NM_001330063.2(ANKFY1):c.1372+9C>T	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	GLikely benign
Select item 3048693	NM_001330063.2(ANKFY1):c.1320A>C (p.Ala440=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3055152	NM_001330063.2(ANKFY1):c.1172+4C>T	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	GLikely benign
Select item 2570966	NM_001330063.2(ANKFY1):c.1123A>G (p.Ile375Val)	ANKFY1 (I375V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3040750	NM_001330063.2(ANKFY1):c.1104-4G>A	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	GLikely benign
Select item 3054280	NM_001330063.2(ANKFY1):c.1065G>A (p.Gln355=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3054399	NM_001330063.2(ANKFY1):c.828T>C (p.Val276=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 2635662	NM_001330063.2(ANKFY1):c.484G>A (p.Val162Met)	ANKFY1 (V162M +1 more)	Single nucleotide variant (missense variant +1 more)	ANKFY1-related disorder	GUncertain significance
Select item 3061559	NM_001330063.2(ANKFY1):c.481C>T (p.Leu161=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3051966	NM_001330063.2(ANKFY1):c.300C>T (p.Ser100=)	ANKFY1	Single nucleotide variant (synonymous variant)	ANKFY1-related disorder	GLikely benign
Select item 3053888	NM_001330063.2(ANKFY1):c.117G>A (p.Ala39=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3032083	NM_001330063.2(ANKFY1):c.84G>A (p.Ala28=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3056788	NM_001330063.2(ANKFY1):c.10+340_10+342del	ANKFY1	Deletion (intron variant)	ANKFY1-related disorder	GLikely benign
Select item 3050938	NM_001330063.2(ANKFY1):c.10+297G>T	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3049629	NM_001330063.2(ANKFY1):c.10+200C>A	ANKFY1	Single nucleotide variant (5 prime UTR variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3047552	NM_001330063.2(ANKFY1):c.10+8T>C	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	GLikely benign

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Items: 30