Related gene-specific medical variations for Gene (Select 55215) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243710	NC_000015.9:g.(?_89804886)_(89806896_?)del	FANCI	Deletion	Fanconi anemia	GLikely pathogenic
Select item 3243709	NC_000015.9:g.(?_89847877)_(89848838_?)del	FANCI	Deletion	Fanconi anemia	GPathogenic
Select item 3243708	NC_000015.9:g.(?_89804796)_(89805129_?)dup	FANCI	Duplication	Fanconi anemia	GLikely pathogenic
Select item 3243707	NC_000015.9:g.(?_89804796)_(89807858_?)del	FANCI	Deletion	Fanconi anemia	GPathogenic
Select item 3243706	NC_000015.9:g.(?_89801915)_(89805129_?)del	FANCI	Deletion	Fanconi anemia	GPathogenic
Select item 3243705	NC_000015.9:g.(?_89840554)_(89848657_?)del	FANCI	Deletion	Fanconi anemia	GPathogenic
Select item 3243703	NC_000015.9:g.(?_89790879)_(89807858_?)del	FANCI	Deletion	Fanconi anemia	GPathogenic
Select item 3243702	NC_000015.9:g.(?_89790879)_(89805129_?)del	FANCI	Deletion	Fanconi anemia	GPathogenic
Select item 3243701	NC_000015.9:g.(?_89790879)_(89811776_?)del	FANCI	Deletion	Fanconi anemia	GPathogenic
Select item 3243699	NC_000015.9:g.(?_89824391)_(89828459_?)del	FANCI	Deletion	Fanconi anemia	GPathogenic
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 3054030	NM_002693.3(POLG):c.*42C>T	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-related disorder	GLikely benign
Select item 2992771	NM_002693.3(POLG):c.3644-9_3644-8del	FANCI, POLG +1 more	Deletion (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2987131	NM_002693.3(POLG):c.3645T>G (p.Gly1215=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2980335	NM_001113378.2(FANCI):c.3925-14C>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2975198	NM_001113378.2(FANCI):c.3925-14C>T	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2972711	NM_002693.3(POLG):c.3713G>C (p.Gly1238Ala)	FANCI, POLG +1 more (G1238A)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2968380	NM_002693.3(POLG):c.3693G>A (p.Leu1231=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2907671	NM_002693.3(POLG):c.3695A>G (p.Glu1232Gly)	FANCI, POLG +1 more (E1232G)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2905555	NM_001113378.2(FANCI):c.3925-5T>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2904243	NM_001113378.2(FANCI):c.3925-15_3925-11dup	FANCI, POLG +1 more	Duplication (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2870404	NM_001113378.2(FANCI):c.3925-13_3925-10dup	FANCI, POLG +1 more	Duplication (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2864959	NM_002693.3(POLG):c.3646G>A (p.Glu1216Lys)	FANCI, POLG +1 more (E1216K)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2851366	NM_002693.3(POLG):c.3654G>C (p.Leu1218=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2842784	NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)	FANCI, POLG +1 more (R1266T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2838823	NM_002693.3(POLG):c.3711T>C (p.Pro1237=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2837325	NM_002693.3(POLG):c.3671T>A (p.Ile1224Asn)	FANCI, POLG +1 more (I1224N)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2830154	NM_002693.3(POLG):c.3644-18A>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2803204	NM_002693.3(POLG):c.3644-36_3644-5dup	FANCI, POLG +1 more	Duplication (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2799126	NM_002693.3(POLG):c.3705C>T (p.Ser1235=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2793881	NM_002693.3(POLG):c.3644-11C>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2786989	NM_001113378.2(FANCI):c.3925-17A>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2749286	NM_002693.3(POLG):c.3666G>A (p.Gln1222=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	POLG-related disorder +1 more	GLikely benign
Select item 2743949	NM_002693.3(POLG):c.3699A>C (p.Lys1233Asn)	FANCI, POLG +1 more (K1233N)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2738200	NM_002693.3(POLG):c.3644-18A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2738002	NM_002693.3(POLG):c.3644-13C>T	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2723622	NM_002693.3(POLG):c.3716C>T (p.Pro1239Leu)	FANCI, POLG +1 more (P1239L)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2714432	NM_001113378.2(FANCI):c.3984A>G (p.Lys1328=)	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2712940	NM_002693.3(POLG):c.3644-8T>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
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 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 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 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 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 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 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 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 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 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 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

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