Related gene-specific medical variations for Gene (Select 2178) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246026	NC_000006.11:g.(?_35428309)_(35430711_?)del	FANCE	Deletion	Fanconi anemia complementation group E	GUncertain significance
Select item 3246025	NC_000006.11:g.(?_35420323)_(35420590_?)del	FANCE	Deletion	Fanconi anemia complementation group E	GPathogenic
Select item 3241583	NM_021922.3(FANCE):c.248+1G>C	FANCE, LOC129996245	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 3241582	NM_021922.3(FANCE):c.1300C>T (p.Gln434Ter)	FANCE (Q434*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 3241581	NM_021922.3(FANCE):c.988C>T (p.Gln330Ter)	FANCE (Q330*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 3047795	NM_021922.3(FANCE):c.-4C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	FANCE-related disorder	GLikely benign
Select item 3021619	NM_021922.3(FANCE):c.153C>T (p.Gly51=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3020211	NM_021922.3(FANCE):c.207G>T (p.Arg69=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3019314	NM_021922.3(FANCE):c.159C>G (p.Arg53=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3015977	NM_021922.3(FANCE):c.134G>A (p.Gly45Glu)	FANCE, LOC129996245 (G45E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 3013625	NM_021922.3(FANCE):c.39C>T (p.Gly13=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3003797	NM_021922.3(FANCE):c.248+19C>T	FANCE, LOC129996245	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3003572	NM_021922.3(FANCE):c.174C>T (p.Phe58=)	LOC129996245, FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2992534	NM_021922.3(FANCE):c.51G>T (p.Ala17=)	LOC129996245, FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2985176	NM_021922.3(FANCE):c.192C>G (p.Leu64=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2964765	NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)	FANCE, LOC129996245 (A20E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2962414	NM_021922.3(FANCE):c.96G>T (p.Ala32=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2909688	NM_021922.3(FANCE):c.108G>T (p.Gly36=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2900328	NM_021922.3(FANCE):c.216G>A (p.Pro72=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2858233	NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)	FANCE, LOC129996245 (E38*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 2843595	NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)	FANCE, LOC129996245	Deletion (inframe_deletion)	Fanconi anemia complementation group E	GUncertain significance
Select item 2837050	NM_021922.3(FANCE):c.162C>T (p.Gly54=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2836862	NM_021922.3(FANCE):c.105G>C (p.Ala35=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2798486	NM_021922.3(FANCE):c.4_13del (p.Ala2fs)	FANCE, LOC129996245 (A2fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group E	GPathogenic
Select item 2751355	NM_021922.3(FANCE):c.248+11G>A	FANCE, LOC129996245	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2744800	NM_021922.3(FANCE):c.29G>A (p.Gly10Glu)	FANCE, LOC129996245 (G10E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2726855	NM_021922.3(FANCE):c.141C>T (p.Leu47=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2725247	NM_021922.3(FANCE):c.88CTGCAGGCG[3] (p.Ala35_Gly36insLeuGlnAla)	FANCE, LOC129996245	Microsatellite (inframe_insertion)	Fanconi anemia complementation group E	GUncertain significance
Select item 2724778	NM_021922.3(FANCE):c.75C>T (p.Pro25=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2714503	NM_021922.3(FANCE):c.209del (p.Glu70fs)	FANCE, LOC129996245 (E70fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GPathogenic
Select item 2689043	NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)	FANCE (E263K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2675554	NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)	FANCE, LOC129996245 (L44fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675553	NM_021922.3(FANCE):c.248+1G>T	FANCE, LOC129996245	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675552	NM_021922.3(FANCE):c.117_136del (p.Arg41fs)	FANCE, LOC129996245 (R41fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675550	NM_021922.3(FANCE):c.24_33del (p.Pro9fs)	FANCE, LOC129996245 (P9fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675549	NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)	FANCE (E418fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675548	NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)	FANCE (L294fs)	Indel (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675547	NM_021922.3(FANCE):c.635del (p.Glu212fs)	FANCE (E212fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675546	NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)	FANCE (Q408*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 2675544	NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)	FANCE (K479fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675543	NM_021922.3(FANCE):c.1238-2A>C	FANCE	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675542	NM_021922.3(FANCE):c.118del (p.Ala40fs)	FANCE, LOC129996245 (A40fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 2675541	NM_021922.3(FANCE):c.505del (p.Arg169fs)	FANCE (R169fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675540	NM_021922.3(FANCE):c.836del (p.Glu279fs)	FANCE (E279fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675539	NM_021922.3(FANCE):c.1113+2T>A	FANCE	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675538	NM_021922.3(FANCE):c.1383+2T>C	FANCE	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675536	NM_021922.3(FANCE):c.969+1G>A	FANCE	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675535	NM_021922.3(FANCE):c.1317-1G>A	FANCE	Single nucleotide variant (splice acceptor variant +1 more)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675533	NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)	FANCE, LOC129996245 (Q34*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 2632785	NM_021922.3(FANCE):c.57G>A (p.Trp19Ter)	FANCE, LOC129996245 (W19*)	Single nucleotide variant (nonsense)	FANCE-related disorder	GLikely pathogenic
Select item 2556353	NM_021922.3(FANCE):c.246G>C (p.Glu82Asp)	FANCE, LOC129996245 (E82D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445290	NM_021922.3(FANCE):c.161G>A (p.Gly54Asp)	FANCE, LOC129996245 (G54D)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
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 2239350	NM_021922.3(FANCE):c.11C>T (p.Pro4Leu)	FANCE, LOC129996245 (P4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189514	NM_021922.3(FANCE):c.248+14C>A	FANCE, LOC129996245	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2188716	NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)	FANCE, LOC129996245 (L47F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2180577	NM_021922.3(FANCE):c.105G>A (p.Ala35=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2173658	NM_021922.3(FANCE):c.74C>T (p.Pro25Leu)	FANCE, LOC129996245 (P25L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2164401	NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)	FANCE, LOC129996245	Indel (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2158123	NM_021922.3(FANCE):c.54C>T (p.Pro18=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2145471	NM_021922.3(FANCE):c.221T>C (p.Val74Ala)	FANCE, LOC129996245 (V74A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2048867	NM_021922.3(FANCE):c.134G>T (p.Gly45Val)	FANCE, LOC129996245 (G45V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2043023	NM_021922.3(FANCE):c.22C>T (p.Leu8Phe)	FANCE, LOC129996245 (L8F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2038882	NM_021922.3(FANCE):c.5C>T (p.Ala2Val)	FANCE, LOC129996245 (A2V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1985333	NM_021922.3(FANCE):c.248+11G>C	FANCE, LOC129996245	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1960655	NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)	FANCE, LOC129996245 (P9S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1903937	NM_021922.3(FANCE):c.248+13C>T	FANCE, LOC129996245	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1900733	NM_021922.3(FANCE):c.157C>T (p.Arg53Cys)	FANCE, LOC129996245 (R53C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1723603	NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)	FANCE, LOC129996245 (E12D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1696377	NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)	FANCE, LOC129996245	Deletion (inframe_deletion +1 more)	Fanconi anemia	GLikely pathogenic
Select item 1696376	NM_021922.3(FANCE):c.71_72insGGG (p.Ala24_Pro25insGly)	FANCE, LOC129996245	Insertion (inframe_insertion)	not specified	GUncertain significance
Select item 1691918	NM_021922.3(FANCE):c.12G>A (p.Pro4=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1638628	NM_021922.3(FANCE):c.222G>T (p.Val74=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1621650	NM_021922.3(FANCE):c.18G>T (p.Ala6=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1614114	NM_021922.3(FANCE):c.222G>C (p.Val74=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1490748	NM_021922.3(FANCE):c.169C>A (p.Pro57Thr)	FANCE, LOC129996245 (P57T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1484876	NM_021922.3(FANCE):c.189G>T (p.Leu63Phe)	FANCE, LOC129996245 (L63F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1483332	NM_021922.3(FANCE):c.239G>A (p.Arg80His)	FANCE, LOC129996245 (R80H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1481129	NM_021922.3(FANCE):c.128G>A (p.Gly43Asp)	FANCE, LOC129996245 (G43D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
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 1466115	NM_021922.3(FANCE):c.145G>A (p.Ala49Thr)	FANCE, LOC129996245 (A49T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1446270	NM_021922.3(FANCE):c.128G>T (p.Gly43Val)	FANCE, LOC129996245 (G43V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1424338	NM_021922.3(FANCE):c.229C>T (p.Pro77Ser)	FANCE, LOC129996245 (P77S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1401850	NM_021922.3(FANCE):c.136G>T (p.Val46Leu)	FANCE, LOC129996245 (V46L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1387558	NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del)	FANCE, LOC129996245	Deletion (inframe_deletion +1 more)	Fanconi anemia complementation group E	GUncertain significance
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 1381359	NM_021922.3(FANCE):c.181G>C (p.Gly61Arg)	LOC129996245, FANCE (G61R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1366958	NM_021922.3(FANCE):c.118G>C (p.Ala40Pro)	FANCE, LOC129996245 (A40P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1343699	NM_021922.3(FANCE):c.86T>A (p.Leu29Gln)	FANCE, LOC129996245 (L29Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1338638	NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)	FANCE, LOC129996245 (W55*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E +1 more	GPathogenic/Likely pathogenic
Select item 1336320	NM_021922.3(FANCE):c.-3G>C	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1327103	NM_021922.3(FANCE):c.104C>T (p.Ala35Val)	FANCE, LOC129996245 (A35V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1319662	NM_021922.3(FANCE):c.1275G>C (p.Lys425Asn)	FANCE (K425N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319658	NM_021922.3(FANCE):c.8C>T (p.Thr3Ile)	FANCE, LOC129996245 (T3I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1319657	NM_021922.3(FANCE):c.965G>A (p.Ser322Asn)	FANCE (S322N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319656	NM_021922.3(FANCE):c.972G>A (p.Met324Ile)	FANCE (M324I)	Single nucleotide variant (missense variant)	not provided	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 1153881	NM_021922.3(FANCE):c.15C>T (p.Asp5=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1135986	NM_021922.3(FANCE):c.84C>T (p.Leu28=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 1111074	NM_021922.3(FANCE):c.138G>A (p.Val46=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign

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