"Revvity Omics, Revvity"[submitter] AND "FANCA"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 648627	NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)	FANCA, ZNF276 (F1415C)	Single nucleotide variant (missense variant +3 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 554887	NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	FANCA, ZNF276 (R1400C +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 208638	NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	FANCA, ZNF276 (L1339fs)	Deletion (frameshift variant +2 more)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 134280	NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	FANCA, ZNF276 (L1339F)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 430085	NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	FANCA, ZNF276 (P1324L)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 1322873	NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)	FANCA, ZNF276	Microsatellite (frameshift variant +3 more)	Fanconi anemia +1 more	GPathogenic
Select item 556224	NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	FANCA, ZNF276 (L1305F)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 526419	NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)	FANCA, ZNF276 (A1284T)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2440212	NM_000135.4(FANCA):c.3828+1del	FANCA, LOC132090445 +1 more	Deletion (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 456123	NM_000135.4(FANCA):c.3828+1G>C	FANCA, LOC132090445 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GPathogenic
Select item 1053079	NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)	FANCA (R1204W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 134266	NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)	FANCA (A1141D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 237048	NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	FANCA, LOC132090450 (T1131A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 219752	NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	FANCA (R1117G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 964798	NM_000135.4(FANCA):c.3349-2A>G	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 1322871	NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)	FANCA (Y1078*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 1324375	NM_000135.4(FANCA):c.3184_3186delinsTGCC (p.Gly1062fs)	FANCA (G1062fs)	Indel (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 2441342	NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)	FANCA (F1052L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 408176	NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	FANCA (D1033E)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 639631	NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)	FANCA (I983M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 408196	NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	FANCA (R951W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1510426	NM_000135.4(FANCA):c.2817T>G (p.Ile939Met)	FANCA (I939M)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2441341	NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)	FANCA, LOC130059837 (L891F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 456101	NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	FANCA, LOC130059837 (E886D)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 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)	Fanconi anemia +3 more	GPathogenic/Likely pathogenic
Select item 435128	NM_000135.4(FANCA):c.2601+1G>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 192384	NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	FANCA (R853*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 971170	NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)	FANCA (S852*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +2 more	GPathogenic
Select item 550840	NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)	FANCA (C846fs)	Microsatellite (frameshift variant)	See cases +2 more	GPathogenic
Select item 1322867	NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)	FANCA (E715*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 2441340	NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)	FANCA (T654S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 265136	NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	FANCA (C625S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 408199	NM_000135.4(FANCA):c.1827-1G>A	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic
Select item 3443	NM_000135.4(FANCA):c.1615del (p.Asp539fs)	FANCA (D539fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A +2 more	GPathogenic
Select item 2154281	NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)	FANCA (V523F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 1322872	NM_000135.4(FANCA):c.1567-1G>C	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1016193	NM_000135.4(FANCA):c.1408C>A (p.Leu470Met)	FANCA (L470M)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 552305	NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)	FANCA (R460*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 1072568	NM_000135.4(FANCA):c.1294del (p.Leu432fs)	FANCA (L432fs)	Deletion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 569979	NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)	FANCA (M415T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 439688	NM_000135.4(FANCA):c.1226-2A>G	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 237032	NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	FANCA (Y359fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 208580	NM_000135.4(FANCA):c.987_990del (p.His330fs)	FANCA (H330fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 456147	NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)	FANCA (L324R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 552738	NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	FANCA (Q286* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 974109	NM_000135.4(FANCA):c.827-1G>T	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 134292	NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)	FANCA (R255del +1 more)	Microsatellite (inframe_deletion)	Fanconi anemia +2 more	GUncertain significance
Select item 408169	NM_000135.4(FANCA):c.709+5G>A	FANCA	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1322869	NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)	FANCA (Q162* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 2061199	NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)	FANCA (E169Q)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 1068013	NM_000135.4(FANCA):c.426+1G>A	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 134277	NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)	FANCA (S103L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1322868	NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer)	FANCA	Microsatellite (nonsense)	Fanconi anemia complementation group A	GPathogenic/Likely pathogenic
Select item 2436163	NM_000135.4(FANCA):c.50dup (p.Arg18fs)	FANCA, LOC112486223 (R18fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 551731	NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	FANCA, LOC112486223 (S4*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 554309	NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	FANCA, LOC112486223 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 553965	NM_000135.4(FANCA):c.1A>T (p.Met1Leu)	FANCA, LOC112486223 (M1L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 435134	NM_000135.4(FANCA):c.1A>G (p.Met1Val)	FANCA, LOC112486223 (M1V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group A +2 more	GPathogenic

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Items: 58