"Baylor Genetics"[submitter] AND "FANCG"[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6718	NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)	FANCG (W599fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 2136764	NM_004629.2(FANCG):c.1772del (p.Leu591fs)	FANCG (L591fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G +1 more	GConflicting classifications of pathogenicity
Select item 929710	NM_004629.2(FANCG):c.1771dup (p.Leu591fs)	FANCG (L591fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 929708	NM_004629.2(FANCG):c.1761-1G>A	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G	GPathogenic
Select item 929705	NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)	FANCG (W572*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely 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 1452290	NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)	FANCG (Y551fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group G +2 more	GPathogenic/Likely pathogenic
Select item 1072435	NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter)	FANCG (Y551*)	Duplication (nonsense)	Fanconi anemia complementation group G +1 more	GPathogenic
Select item 574728	NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)	FANCG (R548*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G +2 more	GPathogenic
Select item 1476370	NM_004629.2(FANCG):c.1637-2del	FANCG	Deletion (splice acceptor variant)	Fanconi anemia complementation group G +1 more	GLikely 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 929701	NM_004629.2(FANCG):c.1593del (p.Ala533fs)	FANCG (A533fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 1066184	NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)	FANCG	Deletion (inframe_indel)	Fanconi anemia +1 more	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 1454507	NM_004629.2(FANCG):c.1483del	FANCG	Deletion	Fanconi anemia complementation group G +1 more	GPathogenic/Likely 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 6717	NM_004629.2(FANCG):c.1480+1G>C	FANCG	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GPathogenic
Select item 2080001	NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)	FANCG (E492*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
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 1068412	NM_004629.2(FANCG):c.1434-2A>C	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 134359	NM_004629.2(FANCG):c.1366del (p.His456fs)	FANCG (H456fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 929696	NM_004629.2(FANCG):c.1359del (p.Ala454fs)	FANCG (A454fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely 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 1073453	NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs)	FANCG (D437fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic
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 623182	NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	FANCG (S387fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely pathogenic
Select item 619961	NM_004629.2(FANCG):c.1158del (p.Ser387fs)	FANCG (S387fs)	Deletion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 577185	NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala)	FANCG (P386A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 929693	NM_004629.2(FANCG):c.1144-1G>C	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G	GPathogenic
Select item 445394	NM_004629.2(FANCG):c.1077-2A>G	FANCG	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 6715	NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)	FANCG (Q356*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G +1 more	GPathogenic
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 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 966362	NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)	FANCG (E326*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely 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 2033891	NM_004629.2(FANCG):c.941del (p.Cys314fs)	FANCG (C314fs)	Deletion (frameshift variant)	FANCG-related disorder +2 more	GPathogenic/Likely 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 2632659	NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)	FANCG (E308*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G +2 more	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 571355	NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)	FANCG (L303P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely 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 435154	NM_004629.2(FANCG):c.905G>T (p.Ser302Ile)	FANCG (S302I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 1071538	NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)	FANCG (Q263*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 929687	NM_004629.2(FANCG):c.778-1G>C	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 526327	NM_004629.2(FANCG):c.778-1G>A	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G +1 more	GLikely pathogenic
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 649214	NM_004629.2(FANCG):c.766C>T (p.His256Tyr)	FANCG (H256Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +3 more	GUncertain significance
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 435153	NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)	FANCG (Q247K)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
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 408142	NM_004629.2(FANCG):c.730G>A (p.Val244Met)	FANCG (V244M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +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 2675589	NM_004629.2(FANCG):c.694_695del (p.Leu232fs)	FANCG (L232fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2840633	NM_004629.2(FANCG):c.692del (p.Ser231fs)	FANCG (S231fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely 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 576782	NM_004629.2(FANCG):c.652C>T (p.Gln218Ter)	FANCG (Q218*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic
Select item 929686	NM_004629.2(FANCG):c.646+1G>T	FANCG	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 6719	NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)	FANCG (Y213fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G +2 more	GPathogenic
Select item 929685	NM_004629.2(FANCG):c.620del (p.Leu207fs)	FANCG (L207fs)	Deletion (frameshift variant)	Fanconi anemia +2 more	GPathogenic
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 3241598	NM_004629.2(FANCG):c.601_602del (p.Gln201fs)	FANCG (Q201fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely 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 2675578	NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)	FANCG	Deletion (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 929684	NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)	FANCG (L191*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 1433629	NM_004629.2(FANCG):c.552dup (p.Ser185fs)	FANCG (S185fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely pathogenic
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 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 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 456237	NM_004629.2(FANCG):c.500A>G (p.Asn167Ser)	FANCG (N167S)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
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 2675583	NM_004629.2(FANCG):c.347_348del (p.Gln116fs)	FANCG (Q116fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 1368148	NM_004629.2(FANCG):c.336del (p.Arg113fs)	FANCG (R113fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 6712	NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)	FANCG (E105*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G +2 more	GPathogenic
Select item 2101589	NM_004629.2(FANCG):c.308-1G>A	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G +1 more	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 6714	NM_004629.2(FANCG):c.307+1G>C	FANCG	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GPathogenic
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 2675579	NM_004629.2(FANCG):c.272del (p.Asp91fs)	FANCG (D91fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 929676	NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)	FANCG (L71P)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GPathogenic/Likely 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 929674	NM_004629.2(FANCG):c.175+1G>A	FANCG	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely pathogenic
Select item 366737	NM_004629.2(FANCG):c.161dup (p.His55fs)	FANCG (H55fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 216091	NM_004629.2(FANCG):c.156dup (p.Leu53fs)	FANCG (L53fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G +1 more	GPathogenic
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 1915448	NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)	FANCG (Q41*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 929673	NM_004629.2(FANCG):c.118C>T (p.Gln40Ter)	FANCG (Q40*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 1679122	NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)	FANCG (R39*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely 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 2675585	NM_004629.2(FANCG):c.99_103del (p.Gly34fs)	FANCG (G34fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 667395	NM_004629.2(FANCG):c.85-2A>T	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely pathogenic
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 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 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 96