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

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

Search results

Items: 1 to 100 of 583

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929572	NM_021922.3(FANCE):c.248+111C>T	FANCE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 261434	NM_021922.3(FANCE):c.249-35A>G	FANCE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2709026	NM_021922.3(FANCE):c.249-18T>C	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2978494	NM_021922.3(FANCE):c.249-11C>A	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1912024	NM_021922.3(FANCE):c.249G>T (p.Leu83=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356444	NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)	FANCE (P85S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2090430	NM_021922.3(FANCE):c.256C>G (p.Leu86Val)	FANCE (L86V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2167289	NM_021922.3(FANCE):c.257T>C (p.Leu86Pro)	FANCE (L86P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2710792	NM_021922.3(FANCE):c.259T>C (p.Leu87=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3017462	NM_021922.3(FANCE):c.265C>A (p.Arg89=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1074477	NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)	FANCE (R89*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 1351105	NM_021922.3(FANCE):c.266G>C (p.Arg89Pro)	FANCE (R89P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1030773	NM_021922.3(FANCE):c.266G>A (p.Arg89Gln)	FANCE (R89Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 134334	NM_021922.3(FANCE):c.266G>T (p.Arg89Leu)	FANCE (R89L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2714938	NM_021922.3(FANCE):c.273C>T (p.Pro91=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 471926	NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)	FANCE (R92W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1060914	NM_021922.3(FANCE):c.275G>A (p.Arg92Gln)	FANCE (R92Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1014467	NM_021922.3(FANCE):c.277A>T (p.Ile93Leu)	FANCE (I93L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 539301	NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)	FANCE (Q95R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 2441347	NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)	FANCE (N97K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 424085	NM_021922.3(FANCE):c.297del (p.Met99fs)	FANCE (M99fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E +1 more	GLikely pathogenic
Select item 471927	NM_021922.3(FANCE):c.298T>A (p.Ser100Thr)	FANCE (S100T)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2978804	NM_021922.3(FANCE):c.304C>T (p.Leu102=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1514119	NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG	FANCE	Indel (splice donor variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 408153	NM_021922.3(FANCE):c.311C>G (p.Ala104Gly)	FANCE (A104G)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1637190	NM_021922.3(FANCE):c.312C>T (p.Ala104=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1351733	NM_021922.3(FANCE):c.313G>C (p.Val105Leu)	FANCE (V105L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1319661	NM_021922.3(FANCE):c.313G>A (p.Val105Ile)	FANCE (V105I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 539296	NM_021922.3(FANCE):c.316C>T (p.Arg106Trp)	FANCE (R106W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 2182952	NM_021922.3(FANCE):c.318G>A (p.Arg106=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1103293	NM_021922.3(FANCE):c.324G>A (p.Ser108=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1982414	NM_021922.3(FANCE):c.325C>T (p.Leu109=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1610002	NM_021922.3(FANCE):c.327G>C (p.Leu109=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1417394	NM_021922.3(FANCE):c.328C>T (p.Pro110Ser)	FANCE (P110S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 981873	NM_021922.3(FANCE):c.329C>T (p.Pro110Leu)	FANCE (P110L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 1034828	NM_021922.3(FANCE):c.330G>A (p.Pro110=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GConflicting classifications of pathogenicity
Select item 1322887	NM_021922.3(FANCE):c.334del (p.Ser112fs)	FANCE (S112fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GPathogenic
Select item 2581474	NM_021922.3(FANCE):c.339del (p.Leu114fs)	FANCE (L114fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E +1 more	GPathogenic/Likely pathogenic
Select item 1442887	NM_021922.3(FANCE):c.338G>C (p.Gly113Ala)	FANCE (G113A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 3092806	NM_021922.3(FANCE):c.341T>C (p.Leu114Pro)	FANCE (L114P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2900216	NM_021922.3(FANCE):c.342C>T (p.Leu114=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2893293	NM_021922.3(FANCE):c.345C>T (p.Leu115=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2675537	NM_021922.3(FANCE):c.350_351del (p.Val117fs)	FANCE (V117fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 2996984	NM_021922.3(FANCE):c.351G>A (p.Val117=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 8709	NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)	FANCE (Q119*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 664609	NM_021922.3(FANCE):c.356A>C (p.Gln119Pro)	FANCE (Q119P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 581847	NM_021922.3(FANCE):c.358A>G (p.Ile120Val)	FANCE (I120V)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GBenign/Likely benign
Select item 2156770	NM_021922.3(FANCE):c.363C>G (p.Ala121=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 471928	NM_021922.3(FANCE):c.365A>T (p.Gln122Leu)	FANCE (Q122L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2202198	NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)	FANCE (D124G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2122273	NM_021922.3(FANCE):c.373C>T (p.Leu125=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1337992	NM_021922.3(FANCE):c.373C>G (p.Leu125Val)	FANCE (L125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1964451	NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)	FANCE (P127A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1477776	NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His)	FANCE (D130H)	Indel (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 907662	NM_021922.3(FANCE):c.387A>T (p.Pro129=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 261435	NM_021922.3(FANCE):c.387A>C (p.Pro129=)	FANCE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3277666	NM_021922.3(FANCE):c.391G>A (p.Ala131Thr)	FANCE (A131T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2120238	NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)	FANCE (W132*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 1337846	NM_021922.3(FANCE):c.396G>T (p.Trp132Cys)	FANCE (W132C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 408156	NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)	FANCE (L133F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2729335	NM_021922.3(FANCE):c.398T>C (p.Leu133Pro)	FANCE (L133P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1622110	NM_021922.3(FANCE):c.399C>T (p.Leu133=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 408154	NM_021922.3(FANCE):c.400C>T (p.Arg134Cys)	FANCE (R134C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1027036	NM_021922.3(FANCE):c.401G>A (p.Arg134His)	FANCE (R134H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1561268	NM_021922.3(FANCE):c.405C>T (p.Ala135=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2169411	NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)	FANCE (E138G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2728134	NM_021922.3(FANCE):c.415T>C (p.Leu139=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2900016	NM_021922.3(FANCE):c.421C>A (p.Arg141=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 8710	NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)	FANCE (R141*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 2227513	NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)	FANCE (R141Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2419911	NM_021922.3(FANCE):c.426G>A (p.Arg142=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2307849	NM_021922.3(FANCE):c.430T>G (p.Leu144Val)	FANCE (L144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1128135	NM_021922.3(FANCE):c.430T>C (p.Leu144=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 929573	NM_021922.3(FANCE):c.436del (p.Val146fs)	FANCE (V146fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GPathogenic
Select item 2818449	NM_021922.3(FANCE):c.435G>C (p.Gly145=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 408151	NM_021922.3(FANCE):c.436G>T (p.Val146Leu)	FANCE (V146L)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2992890	NM_021922.3(FANCE):c.438G>A (p.Val146=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 958629	NM_021922.3(FANCE):c.440G>A (p.Gly147Glu)	FANCE (G147E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2760055	NM_021922.3(FANCE):c.444C>G (p.Thr148=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2194247	NM_021922.3(FANCE):c.447C>G (p.Ser149=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1034729	NM_021922.3(FANCE):c.448A>G (p.Met150Val)	FANCE (M150V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 838896	NM_021922.3(FANCE):c.449T>C (p.Met150Thr)	FANCE (M150T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GConflicting classifications of pathogenicity
Select item 2741404	NM_021922.3(FANCE):c.456A>C (p.Gly152=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 539298	NM_021922.3(FANCE):c.457G>A (p.Ala153Thr)	FANCE (A153T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1524207	NM_021922.3(FANCE):c.461C>T (p.Ser154Phe)	FANCE (S154F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1429921	NM_021922.3(FANCE):c.463C>T (p.Pro155Ser)	FANCE (P155S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1397552	NM_021922.3(FANCE):c.463C>G (p.Pro155Ala)	FANCE (P155A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 3015986	NM_021922.3(FANCE):c.465A>G (p.Pro155=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2901412	NM_021922.3(FANCE):c.465A>T (p.Pro155=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 695144	NM_021922.3(FANCE):c.466C>T (p.Leu156=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2828426	NM_021922.3(FANCE):c.477A>G (p.Arg159=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1091008	NM_021922.3(FANCE):c.480C>T (p.Cys160=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 356445	NM_021922.3(FANCE):c.480C>A (p.Cys160Ter)	FANCE (C160*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GUncertain significance
Select item 1484363	NM_021922.3(FANCE):c.487C>A (p.Gln163Lys)	FANCE (Q163K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1224527	NM_021922.3(FANCE):c.491T>C (p.Leu164Pro)	FANCE (L164P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1557993	NM_021922.3(FANCE):c.495A>G (p.Gln165=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1653030	NM_021922.3(FANCE):c.499C>T (p.Leu167=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1563569	NM_021922.3(FANCE):c.501A>G (p.Leu167=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 963213	NM_021922.3(FANCE):c.502T>C (p.Cys168Arg)	FANCE (C168R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2675541	NM_021922.3(FANCE):c.505del (p.Arg169fs)	FANCE (R169fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic

<< First< Prev

Page of 6