ClinVar for MedGen (Select 323016) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241612	NM_001113378.2(FANCI):c.578_589del (p.Phe193_Lys197delinsTer)	FANCI	Deletion (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241611	NM_001113378.2(FANCI):c.289-2A>G	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241610	NM_001113378.2(FANCI):c.3829C>T (p.Gln1277Ter)	FANCI (Q1184* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241609	NM_001113378.2(FANCI):c.2907_2908del (p.Leu969fs)	FANCI (L876fs +2 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241608	NM_001113378.2(FANCI):c.3805A>T (p.Lys1269Ter)	FANCI (K1176* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241606	NM_001113378.2(FANCI):c.76_77del (p.Glu26fs)	FANCI (E26fs)	Microsatellite (frameshift variant +1 more)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241605	NM_001113378.2(FANCI):c.3492_3493delinsT (p.Lys1164fs)	FANCI (K1071fs +2 more)	Indel (frameshift variant)	Fanconi anemia complementation group I	GPathogenic
Select item 3241604	NM_001113378.2(FANCI):c.165del (p.Cys56fs)	FANCI (C56fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241603	NM_001113378.2(FANCI):c.701_702del (p.Ile234fs)	FANCI (I141fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241602	NM_001113378.2(FANCI):c.3200_3201insCCAC (p.Glu1067fs)	FANCI (E1007fs +2 more)	Insertion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241601	NM_001113378.2(FANCI):c.3578dup (p.Asn1193fs)	FANCI (N1100fs +2 more)	Duplication (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241600	NM_001113378.2(FANCI):c.1055del (p.Asn352fs)	FANCI (N259fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3241599	NM_001113378.2(FANCI):c.3688_3689del (p.Lys1230fs)	FANCI (K1137fs +2 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 3031946	NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter)	FANCI (Y1122* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I +1 more	GLikely pathogenic
Select item 2997488	NM_001113378.2(FANCI):c.85-1G>T	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group I +1 more	GLikely pathogenic
Select item 2957315	NM_001113378.2(FANCI):c.739del (p.Glu247fs)	FANCI (E154fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I +1 more	GPathogenic/Likely pathogenic
Select item 2894378	NM_001113378.2(FANCI):c.2340del (p.Lys780fs)	FANCI (K687fs +1 more)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2770319	NM_001113378.2(FANCI):c.1698+1G>A	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group I +1 more	GLikely pathogenic
Select item 2675659	NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)	FANCI (S472fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675658	NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)	FANCI (Q204* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675657	NM_001113378.2(FANCI):c.1293+1G>T	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675656	NM_001113378.2(FANCI):c.2216del (p.Asn739fs)	FANCI (N646fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675655	NM_001113378.2(FANCI):c.2578del (p.Ser860fs)	FANCI (S767fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675654	NM_001113378.2(FANCI):c.1890+1G>T	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675653	NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)	FANCI (Y1039fs +2 more)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675651	NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)	FANCI (K622* +1 more)	Duplication (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675650	NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)	FANCI (E602fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675649	NM_001113378.2(FANCI):c.358dup (p.Ser120fs)	FANCI (S120fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675648	NM_001113378.2(FANCI):c.422del (p.Lys141fs)	FANCI (K141fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675647	NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)	FANCI (Q323* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675646	NM_001113378.2(FANCI):c.3007-1G>T	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675645	NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)	FANCI (Y1039* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675644	NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)	FANCI (K805fs +2 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675643	NM_001113378.2(FANCI):c.2804-2A>T	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 2675642	NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)	FANCI (Q594* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675641	NM_001113378.2(FANCI):c.1751del (p.Cys584fs)	FANCI (C491fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675640	NM_001113378.2(FANCI):c.1584-1G>C	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 2675639	NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)	FANCI (V893fs +2 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GPathogenic
Select item 2675637	NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)	FANCI (K303* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675636	NM_001113378.2(FANCI):c.2626del (p.Asp876fs)	FANCI (D783fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675635	NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)	FANCI (K455fs +1 more)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675634	NM_001113378.2(FANCI):c.2637-1G>T	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675633	NM_001113378.2(FANCI):c.1699-2A>C	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675632	NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)	FANCI (Y606* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675631	NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)	FANCI (E801* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675630	NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)	FANCI (L1174fs +2 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675629	NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)	FANCI (L899* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675628	NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)	FANCI (Q159fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675627	NM_001113378.2(FANCI):c.2889+1G>A	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675626	NM_001113378.2(FANCI):c.2804-2A>G	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675625	NM_001113378.2(FANCI):c.2890-2A>C	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675624	NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)	FANCI	Deletion (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675623	NM_001113378.2(FANCI):c.238dup (p.Asp80fs)	FANCI (D80fs)	Duplication (frameshift variant +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675622	NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)	FANCI (Q568* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675621	NM_001113378.2(FANCI):c.2456+1G>A	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group I +1 more	GLikely pathogenic
Select item 2675620	NM_001113378.2(FANCI):c.1112+2T>C	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675619	NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)	FANCI (D563fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675618	NM_001113378.2(FANCI):c.669+1G>T	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675617	NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)	FANCI (R851fs +2 more)	Microsatellite (frameshift variant)	Fanconi anemia complementation group I +1 more	GPathogenic/Likely pathogenic
Select item 2675616	NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)	FANCI (Q540* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I +1 more	GPathogenic/Likely pathogenic
Select item 2675615	NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)	FANCI (E291fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675614	NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)	FANCI (S240fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675613	NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)	FANCI (S168* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675612	NM_001113378.2(FANCI):c.249del (p.Glu84fs)	FANCI (E84fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675611	NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)	FANCI (L1049fs +2 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I +1 more	GPathogenic/Likely pathogenic
Select item 2675610	NM_001113378.2(FANCI):c.3924+2T>C	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675609	NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile)	FANCI (L554I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 2675608	NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)	FANCI (I182fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675607	NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly)	FANCI (D189G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 2675606	NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)	FANCI (Q249* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675605	NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)	FANCI (T793fs +2 more)	Microsatellite (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675604	NM_001113378.2(FANCI):c.1467del (p.Leu491fs)	FANCI (L398fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675602	NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)	FANCI (L552fs +1 more)	Microsatellite (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675601	NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)	FANCI (L816* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675600	NM_001113378.2(FANCI):c.490del (p.Leu164fs)	FANCI (L164fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675599	NM_001113378.2(FANCI):c.3007-1G>C	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 2675598	NM_001113378.2(FANCI):c.446del	FANCI	Deletion	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675597	NM_001113378.2(FANCI):c.1584-1G>A	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675596	NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)	FANCI (Q1089* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675595	NM_001113378.2(FANCI):c.685_686del (p.Val229fs)	FANCI (V136fs +1 more)	Microsatellite (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675594	NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)	FANCI (E1004fs +2 more)	Indel (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2675593	NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)	FANCI (K807fs +2 more)	Microsatellite (frameshift variant)	Fanconi anemia complementation group I	GLikely pathogenic
Select item 2582474	NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)	FANCI (F1051L +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 2441350	NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)	FANCI (I68M)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I	GUncertain significance
Select item 2441349	NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)	FANCI (Q258E +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 2441348	NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)	FANCI (K130T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 2271036	NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)	FANCI (P414S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 2191991	NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)	FANCI (R786* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2169244	NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)	FANCI (Q823* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2073790	NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)	FANCI (R117* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2064506	NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)	FANCI (Q1002* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 1702568	NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)	FANCI (S1175fs +2 more)	Deletion (frameshift variant)	Fanconi anemia complementation group I +2 more	GPathogenic
Select item 1692561	NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg)	FANCI (Q1031R +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1692554	NM_001113378.2(FANCI):c.1263C>A (p.Leu421=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +1 more	GLikely benign
Select item 1692553	NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala)	FANCI (V290A +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1675074	NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro)	FANCI (A1144P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1662900	NM_001113378.2(FANCI):c.2291+12C>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1655429	NM_001113378.2(FANCI):c.3007-7A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GLikely benign
Select item 1650802	NM_001113378.2(FANCI):c.3059-17T>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1627454	NM_001113378.2(FANCI):c.3652-10A>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign

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