ANAPC7[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2283638	NM_016238.3(ANAPC7):c.1087C>T (p.Arg363Trp)	ANAPC7 (R377W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257876	NM_016238.3(ANAPC7):c.865G>A (p.Asp289Asn)	ANAPC7 (D102N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608549	NM_016238.3(ANAPC7):c.830A>G (p.Tyr277Cys)	ANAPC7 (Y210C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208515	NM_016238.3(ANAPC7):c.722G>A (p.Gly241Glu)	ANAPC7 (G174E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067985	NM_016238.3(ANAPC7):c.493del (p.Cys165fs)	ANAPC7 (C165fs +2 more)	Deletion (frameshift variant +1 more)	Ferguson-Bonni neurodevelopmental syndrome	GUncertain significance
Select item 3118028	NM_016238.3(ANAPC7):c.454C>A (p.Arg152Ser)	ANAPC7 (R152S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643288	NM_016238.3(ANAPC7):c.159_160del (p.Phe54fs)	ANAPC7 (F54fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2442207	NM_016238.3(ANAPC7):c.137T>C (p.Leu46Ser)	ANAPC7 (L46S +1 more)	Single nucleotide variant (missense variant +1 more)	Ferguson-Bonni neurodevelopmental syndrome	GUncertain significance
Select item 2377863	NM_016238.3(ANAPC7):c.37G>T (p.Ala13Ser)	ANAPC7 (A13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118033	NM_016238.3(ANAPC7):c.-23T>A	ANAPC7	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3118023	NM_016238.3(ANAPC7):c.-56T>A	ANAPC7	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2357394	NM_016238.3(ANAPC7):c.-57C>G	ANAPC7	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2230453	NM_016238.3(ANAPC7):c.-72T>G	ANAPC7	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance