"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FANCE"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356438	NM_021922.3(FANCE):c.-100C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GConflicting classifications of pathogenicity
Select item 1477550	NM_021922.3(FANCE):c.25C>A (p.Pro9Thr)	FANCE, LOC129996245 (P9T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 408158	NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)	FANCE, LOC129996245 (A11T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 134331	NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)	FANCE, LOC129996245 (P18S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1384658	NM_021922.3(FANCE):c.59C>T (p.Ala20Val)	FANCE, LOC129996245 (A20V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 645170	NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)	LOC129996245, FANCE (L22P)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 1314290	NM_021922.3(FANCE):c.145G>C (p.Ala49Pro)	FANCE, LOC129996245 (A49P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GConflicting classifications of pathogenicity
Select item 642951	NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr)	FANCE, LOC129996245 (D59Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 414825	NM_021922.3(FANCE):c.210G>A (p.Glu70=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 408157	NM_021922.3(FANCE):c.214C>T (p.Pro72Ser)	FANCE, LOC129996245 (P72S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 134330	NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)	FANCE, LOC129996245 (P77T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 356443	NM_021922.3(FANCE):c.248+7C>A	FANCE, LOC129996245	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign/Likely 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 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 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 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 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 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 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 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 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 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 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 1179182	NM_021922.3(FANCE):c.524dup (p.Arg176fs)	FANCE (R176fs)	Duplication (frameshift variant)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 1400427	NM_021922.3(FANCE):c.520G>C (p.Gly174Arg)	FANCE (G174R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 695965	NM_021922.3(FANCE):c.522G>A (p.Gly174=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E +1 more	GLikely benign
Select item 1319660	NM_021922.3(FANCE):c.524G>A (p.Gly175Asp)	FANCE (G175D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1404192	NM_021922.3(FANCE):c.533T>G (p.Leu178Trp)	FANCE (L178W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 539299	NM_021922.3(FANCE):c.559G>A (p.Glu187Lys)	FANCE (E187K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 471930	NM_021922.3(FANCE):c.592G>A (p.Gly198Arg)	FANCE (G198R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1433588	NM_021922.3(FANCE):c.652A>G (p.Lys218Glu)	FANCE (K218E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1367807	NM_021922.3(FANCE):c.653A>G (p.Lys218Arg)	FANCE (K218R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1691919	NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)	FANCE (R219K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1005434	NM_021922.3(FANCE):c.661C>T (p.Arg221Trp)	FANCE (R221W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1327104	NM_021922.3(FANCE):c.662G>A (p.Arg221Gln)	FANCE (R221Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 210982	NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)	FANCE (G246del)	Microsatellite (inframe_deletion)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 471932	NM_021922.3(FANCE):c.856-3C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 356448	NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)	FANCE (L288F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307543	NM_021922.3(FANCE):c.869G>A (p.Arg290Lys)	FANCE (R290K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1564970	NM_021922.3(FANCE):c.901-20C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 655390	NM_021922.3(FANCE):c.929dup (p.Val311fs)	FANCE (V311fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1007334	NM_021922.3(FANCE):c.929C>T (p.Pro310Leu)	FANCE (P310L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 435149	NM_021922.3(FANCE):c.929C>G (p.Pro310Arg)	FANCE (P310R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 134336	NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)	FANCE (P310Q)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex +2 more	GConflicting classifications of pathogenicity
Select item 1338153	NM_021922.3(FANCE):c.952G>A (p.Glu318Lys)	FANCE (E318K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 696894	NM_021922.3(FANCE):c.954A>G (p.Glu318=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1598283	NM_021922.3(FANCE):c.970-17C>A	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 356449	NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)	FANCE (L326W)	Single nucleotide variant (missense variant)	Ovarian cancer +2 more	GConflicting classifications of pathogenicity
Select item 1415948	NM_021922.3(FANCE):c.983G>C (p.Cys328Ser)	FANCE (C328S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 471934	NM_021922.3(FANCE):c.999C>T (p.Leu333=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 134340	NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)	FANCE (G340R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 539295	NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp)	FANCE (R343W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 539302	NM_021922.3(FANCE):c.1053T>G (p.Leu351=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1312593	NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe)	FANCE (L357F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GUncertain significance
Select item 1575665	NM_021922.3(FANCE):c.1092C>T (p.Thr364=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 8711	NM_021922.3(FANCE):c.1114-8G>A	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E +1 more	GPathogenic/Likely pathogenic
Select item 134342	NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys)	FANCE (R381C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 471918	NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr)	FANCE (P397T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1441250	NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr)	FANCE (C399Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1633511	NM_021922.3(FANCE):c.1237+20C>G	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1158762	NM_021922.3(FANCE):c.1238-10C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 471919	NM_021922.3(FANCE):c.1309A>G (p.Met437Val)	FANCE (M437V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GConflicting classifications of pathogenicity
Select item 539303	NM_021922.3(FANCE):c.1316+10C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 845507	NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile)	FANCE (T450I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 356452	NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)	FANCE (R460W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1588162	NM_021922.3(FANCE):c.1384-14C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 221002	NM_021922.3(FANCE):c.1572G>A (p.Arg524=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 408159	NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr)	FANCE (A530T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 471923	NM_021922.3(FANCE):c.1591T>A (p.Leu531Met)	FANCE (L531M)	Single nucleotide variant (missense variant)	FANCE-related disorder +1 more	GUncertain significance
Select item 1351718	NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)	FANCE (K532Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance

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Items: 74