"Myriad Genetics, Inc."[submitter] AND "FANCA"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 408175	NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	FANCA, ZNF276 (R1400H)	Single nucleotide variant (missense variant +3 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 41003	NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	FANCA, ZNF276 (F1263del)	Microsatellite (inframe_deletion +2 more)	FANCA-related condition +3 more	GPathogenic
Select item 983702	NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter)	FANCA (C1251*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 983703	NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter)	FANCA (E1214*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 983704	NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)	FANCA (L1167*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1725634	NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)	FANCA (Q1160*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 237048	NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	LOC132090450, FANCA (T1131A)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 551847	NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)	FANCA, LOC132090450 (Q1128E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 983705	NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter)	FANCA (E1045*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 983706	NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter)	FANCA (L1006*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1724153	NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)	FANCA (Y998*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 983707	NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter)	FANCA (E950*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 552293	NM_000135.4(FANCA):c.2778+83C>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 215981	NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	FANCA, LOC130059837 (Q869P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 983788	NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)	FANCA (C833*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic/Likely pathogenic
Select item 983789	NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter)	FANCA (L830*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 983790	NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter)	FANCA (C824*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 983791	NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter)	FANCA (W745*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1725744	NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)	FANCA (G658*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 983792	NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter)	FANCA (G651*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1698552	NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)	FANCA (G638*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GLikely pathogenic
Select item 1725160	NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)	FANCA (E630*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 408199	NM_000135.4(FANCA):c.1827-1G>A	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 983793	NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter)	FANCA (K608*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1724353	NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)	FANCA (E552*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 983794	NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter)	FANCA (G529*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 983795	NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)	FANCA (Q490*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 984160	NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter)	FANCA (E484*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1726433	NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)	FANCA (E408*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 984161	NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter)	FANCA (R388*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 984162	NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter)	FANCA (S357*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1726391	NM_000135.4(FANCA):c.714dup (p.Val239fs)	FANCA (V207fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 984163	NM_000135.4(FANCA):c.658C>T (p.Gln220Ter)	FANCA (Q188* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 984164	NM_000135.4(FANCA):c.520C>T (p.Gln174Ter)	FANCA (Q174*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 984165	NM_000135.4(FANCA):c.467T>A (p.Leu156Ter)	FANCA (L156*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 974097	NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)	FANCA (R142*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 984166	NM_000135.4(FANCA):c.364G>T (p.Gly122Ter)	FANCA (G122*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 984285	NM_000135.4(FANCA):c.308C>G (p.Ser103Ter)	FANCA (S103*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1724107	NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)	FANCA (Q101*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 645709	NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)	FANCA (Y86*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 984286	NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)	FANCA (G28*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 550541	NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	FANCA, LOC112486223 (W22*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 553521	NM_000135.4(FANCA):c.1A>C (p.Met1Leu)	FANCA, LOC112486223 (M1L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GPathogenic

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Items: 43