ClinVar for MedGen (Select 854017) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241598	NM_004629.2(FANCG):c.601_602del (p.Gln201fs)	FANCG (Q201fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 3241597	NM_004629.2(FANCG):c.942C>A (p.Cys314Ter)	FANCG (C314*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 3241596	NM_004629.2(FANCG):c.109_110del (p.Leu37fs)	FANCG (L37fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group G	GPathogenic
Select item 3241595	NM_004629.2(FANCG):c.511-1G>T	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 3241593	NM_004629.2(FANCG):c.1542_1545dup (p.Ala516fs)	FANCG (A516fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 3241592	NM_004629.2(FANCG):c.1672_1673del (p.Leu558fs)	FANCG (L558fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2840633	NM_004629.2(FANCG):c.692del (p.Ser231fs)	FANCG (S231fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675592	NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)	FANCG (Q170*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675591	NM_004629.2(FANCG):c.306_307del (p.Arg102fs)	FANCG (R102fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675589	NM_004629.2(FANCG):c.694_695del (p.Leu232fs)	FANCG (L232fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely pathogenic
Select item 2675588	NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)	FANCG (Y447*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675587	NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)	FANCG (Q198*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675586	NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)	FANCG (L42*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675585	NM_004629.2(FANCG):c.99_103del (p.Gly34fs)	FANCG (G34fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675584	NM_004629.2(FANCG):c.510+1G>A	FANCG	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675583	NM_004629.2(FANCG):c.347_348del (p.Gln116fs)	FANCG (Q116fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675582	NM_004629.2(FANCG):c.1480+1G>A	FANCG	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675581	NM_004629.2(FANCG):c.721_733del (p.Pro241fs)	FANCG (P241fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675580	NM_004629.2(FANCG):c.907del (p.Leu303fs)	FANCG (L303fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675579	NM_004629.2(FANCG):c.272del (p.Asp91fs)	FANCG (D91fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675578	NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)	FANCG	Deletion (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675577	NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)	FANCG (Q247*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675576	NM_004629.2(FANCG):c.1144-1G>A	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675575	NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)	FANCG (W122*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675574	NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)	FANCG (K491fs)	Indel (frameshift variant)	Fanconi anemia complementation group G	GPathogenic
Select item 2675573	NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)	FANCG (Q4fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675572	NM_004629.2(FANCG):c.797dup (p.Leu267fs)	FANCG (L267fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675571	NM_004629.2(FANCG):c.307+1G>A	FANCG	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675570	NM_004629.2(FANCG):c.176-6_190del	FANCG	Deletion (splice acceptor variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675569	NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)	FANCG (L334fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675568	NM_004629.2(FANCG):c.682del (p.Ala228fs)	FANCG (A228fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2675567	NM_004629.2(FANCG):c.930dup (p.Asn311fs)	FANCG (N311fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675566	NM_004629.2(FANCG):c.1636+1G>C	FANCG	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2637968	NM_004629.2(FANCG):c.736G>T (p.Val246Phe)	FANCG (V246F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 2632659	NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)	FANCG (E308*)	Single nucleotide variant (nonsense)	FANCG-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2584908	NM_004629.2(FANCG):c.722_734del (p.Pro241fs)	FANCG (P241fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 2577889	NM_004629.2(FANCG):c.910G>C (p.Glu304Gln)	FANCG (E304Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 2446386	NM_004629.2(FANCG):c.619del (p.Leu207fs)	FANCG (L207fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GPathogenic/Likely pathogenic
Select item 2421999	NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)	FANCG (E304fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2136764	NM_004629.2(FANCG):c.1772del (p.Leu591fs)	FANCG (L591fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 2101589	NM_004629.2(FANCG):c.308-1G>A	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 2080001	NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)	FANCG (E492*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G +1 more	GPathogenic
Select item 2061516	NM_004629.2(FANCG):c.1144-3C>T	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2040953	NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)	FANCG (S598R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2038974	NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)	FANCG (L166P)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2033891	NM_004629.2(FANCG):c.941del (p.Cys314fs)	FANCG (C314fs)	Deletion (frameshift variant)	FANCG-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1915448	NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)	FANCG (Q41*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely pathogenic
Select item 1806248	NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)	FANCG (T357M)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1803235	NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)	FANCG (A335T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 1710966	NM_004629.2(FANCG):c.1813C>T (p.Arg605Cys)	FANCG (R605C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 1691511	NM_004629.2(FANCG):c.314A>G (p.Glu105Gly)	FANCG (E105G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 1679122	NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)	FANCG (R39*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1635569	NM_004629.2(FANCG):c.1433+12G>A	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1626592	NM_004629.2(FANCG):c.549T>C (p.Thr183=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G +1 more	GLikely benign
Select item 1545908	NM_004629.2(FANCG):c.1818C>T (p.Asp606=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G +1 more	GLikely benign
Select item 1543256	NM_004629.2(FANCG):c.511-10_511-8del	FANCG	Microsatellite (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1476370	NM_004629.2(FANCG):c.1637-2del	FANCG	Deletion (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 1475951	NM_004629.2(FANCG):c.934G>A (p.Val312Ile)	FANCG (V312I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1458594	NM_004629.2(FANCG):c.713dup (p.Leu239fs)	FANCG (L239fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1457890	NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)	FANCG (Q4*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1454507	NM_004629.2(FANCG):c.1483del	FANCG	Deletion	Fanconi anemia complementation group G +1 more	GPathogenic/Likely pathogenic
Select item 1452290	NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)	FANCG (Y551fs)	Microsatellite (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1433629	NM_004629.2(FANCG):c.552dup (p.Ser185fs)	FANCG (S185fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1426691	NM_004629.2(FANCG):c.1077G>A (p.Arg359=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
Select item 1403140	NM_004629.2(FANCG):c.981dup (p.Leu328fs)	FANCG (L328fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely pathogenic
Select item 1368148	NM_004629.2(FANCG):c.336del (p.Arg113fs)	FANCG (R113fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 1337526	NM_004629.2(FANCG):c.1354G>A (p.Val452Ile)	FANCG (V452I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1337018	NM_004629.2(FANCG):c.646+12A>G	FANCG	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1327085	NM_004629.2(FANCG):c.769C>T (p.Arg257Cys)	FANCG (R257C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1324383	NM_004629.2(FANCG):c.1761-2A>C	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 1322888	NM_004629.2(FANCG):c.910G>T (p.Glu304Ter)	FANCG (E304*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G	GPathogenic
Select item 1319086	NM_004629.2(FANCG):c.1657C>T (p.His553Tyr)	FANCG (H553Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
Select item 1210408	NM_004629.2(FANCG):c.842del (p.Pro281fs)	FANCG (P281fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 1210407	NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter)	FANCG (Q343*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 1199307	NM_004629.2(FANCG):c.-19G>A	FANCG	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 1199306	NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys)	FANCG (R359K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 1199305	NM_004629.2(FANCG):c.-7G>A	FANCG	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group G	GLikely benign
Select item 1177024	NM_004629.2(FANCG):c.84+77C>A	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia complementation group G +1 more	GBenign
Select item 1177023	NM_004629.2(FANCG):c.646+58C>T	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia complementation group G +1 more	GBenign
Select item 1129434	NM_004629.2(FANCG):c.795A>T (p.Ala265=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G +1 more	GLikely benign
Select item 1110805	NM_004629.2(FANCG):c.957G>C (p.Pro319=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1098853	NM_004629.2(FANCG):c.1287C>T (p.Pro429=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1083452	NM_004629.2(FANCG):c.124T>C (p.Leu42=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G +1 more	GLikely benign
Select item 1077276	NM_004629.2(FANCG):c.1473A>G (p.Lys491=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1073453	NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs)	FANCG (D437fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 1072557	NM_004629.2(FANCG):c.1144-1G>T	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G +1 more	GPathogenic
Select item 1072435	NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter)	FANCG (Y551*)	Duplication (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 1071538	NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)	FANCG (Q263*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 1068412	NM_004629.2(FANCG):c.1434-2A>C	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G +1 more	GLikely pathogenic
Select item 1066184	NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)	FANCG	Deletion (inframe_indel)	Fanconi anemia complementation group G +1 more	GLikely pathogenic
Select item 1027151	NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr)	FANCG (A507T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
Select item 1014201	NM_004629.2(FANCG):c.1292T>G (p.Met431Arg)	FANCG (M431R)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 1011914	NM_004629.2(FANCG):c.293G>T (p.Arg98Leu)	FANCG (R98L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 999134	NM_004629.2(FANCG):c.422G>A (p.Arg141His)	FANCG (R141H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 991660	NM_004629.2(FANCG):c.1777C>T (p.Leu593=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 973640	NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly)	FANCG (D362G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 970675	NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp)	FANCG (R433W)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 969518	NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs)	FANCG (E395fs)	Indel (frameshift variant)	Fanconi anemia complementation group G	GPathogenic
Select item 967427	NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala)	FANCG (T568A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +2 more	GConflicting classifications of pathogenicity
Select item 966362	NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)	FANCG (E326*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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