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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093231	NM_032511.4(FAXC):c.1180G>A (p.Asp394Asn)	FAXC (D341N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518284	NM_032511.4(FAXC):c.1098G>T (p.Arg366Ser)	FAXC (R366S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343996	NM_032511.4(FAXC):c.1070C>T (p.Pro357Leu)	FAXC (P236L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307981	NM_032511.4(FAXC):c.1031A>G (p.Glu344Gly)	FAXC (E223G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371124	NM_032511.4(FAXC):c.1012G>C (p.Asp338His)	FAXC (D285H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093228	NM_032511.4(FAXC):c.1002G>T (p.Trp334Cys)	FAXC (W213C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553352	NM_032511.4(FAXC):c.905C>A (p.Thr302Asn)	FAXC (T249N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093234	NM_032511.4(FAXC):c.860C>A (p.Thr287Asn)	FAXC (T234N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298616	NM_032511.4(FAXC):c.851A>G (p.Lys284Arg)	FAXC (K163R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263075	NM_032511.4(FAXC):c.847C>T (p.Pro283Ser)	FAXC (P162S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268411	NM_032511.4(FAXC):c.817C>T (p.Leu273Phe)	FAXC (L152F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093233	NM_032511.4(FAXC):c.782T>C (p.Met261Thr)	FAXC (M261T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392189	NM_032511.4(FAXC):c.778T>C (p.Tyr260His)	FAXC (Y260H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266237	NM_032511.4(FAXC):c.731G>A (p.Arg244His)	FAXC (R191H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255889	NM_032511.4(FAXC):c.711A>G (p.Ile237Met)	FAXC (I116M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405235	NM_032511.4(FAXC):c.691A>T (p.Arg231Trp)	FAXC (R178W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602706	NM_032511.4(FAXC):c.556A>G (p.Ile186Val)	FAXC (I65V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2369672	NM_032511.4(FAXC):c.325A>G (p.Asn109Asp)	FAXC (N56D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2310537	NM_032511.4(FAXC):c.269A>G (p.Lys90Arg)	FAXC (K37R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3093230	NM_032511.4(FAXC):c.110C>G (p.Ser37Cys)	FAXC (S37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093229	NM_032511.4(FAXC):c.108C>A (p.Phe36Leu)	FAXC (F36L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494380	NM_032511.4(FAXC):c.32G>C (p.Arg11Thr)	FAXC (R11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616113	NM_032511.4(FAXC):c.23C>T (p.Ala8Val)	FAXC (A8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 23