Related gene-specific medical variations for Gene (Select 51479) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358592	NM_001330063.2(ANKFY1):c.2583C>T (p.Ser861=)	ANKFY1, LOC126862466	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3120827	NM_001330063.2(ANKFY1):c.2498G>A (p.Arg833Gln)	ANKFY1, LOC126862466 (R833Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647252	NM_001330063.2(ANKFY1):c.2559C>G (p.Ala853=)	ANKFY1, LOC126862466	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2591691	NM_001330063.2(ANKFY1):c.2446G>A (p.Gly816Ser)	ANKFY1, LOC126862466 (G816S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2561763	NM_001330063.2(ANKFY1):c.2425G>A (p.Val809Met)	ANKFY1, LOC126862466 (V810M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465513	NM_001330063.2(ANKFY1):c.2479G>A (p.Asp827Asn)	ANKFY1, LOC126862466 (D828N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2204874	NM_001330063.2(ANKFY1):c.2588C>G (p.Ala863Gly)	ANKFY1, LOC126862466 (A905G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1257665	NM_001330063.2(ANKFY1):c.2598+177C>T	ANKFY1, LOC126862466	Single nucleotide variant (intron variant)	not provided	GBenign