C3469527[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134362	NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)	FANCG (K618fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G +2 more	GUncertain significance
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 6718	NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)	FANCG (W599fs)	Deletion (frameshift variant)	Fanconi anemia +3 more	GPathogenic
Select item 666016	NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys)	FANCG (R601C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 846051	NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln)	FANCG (R563Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 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 836334	NM_004629.2(FANCG):c.1492A>C (p.Asn498His)	FANCG (N498H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 6717	NM_004629.2(FANCG):c.1480+1G>C	FANCG	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 582577	NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln)	FANCG (E492Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 239963	NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln)	FANCG (R485Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 408143	NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp)	FANCG (R485W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
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 579904	NM_004629.2(FANCG):c.1367A>T (p.His456Leu)	FANCG (H456L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
Select item 701115	NM_004629.2(FANCG):c.1365C>G (p.Thr455=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
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 836235	NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro)	FANCG (R433P)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	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 623182	NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	FANCG (S387fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 699342	NM_004629.2(FANCG):c.1158C>G (p.Pro386=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 914728	NM_004629.2(FANCG):c.1157C>A (p.Pro386His)	FANCG (P386H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 134360	NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)	FANCG (P386R)	Single nucleotide variant (missense variant)	Ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 577185	NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala)	FANCG (P386A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +2 more	GUncertain significance
Select item 583119	NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala)	FANCG (P385A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 696842	NM_004629.2(FANCG):c.1086C>T (p.Asp362=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
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 445394	NM_004629.2(FANCG):c.1077-2A>G	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +2 more	GPathogenic
Select item 929690	NM_004629.2(FANCG):c.1008dup (p.Pro337fs)	FANCG (P337fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G +1 more	GPathogenic
Select item 134369	NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)	FANCG (P330S)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
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 1110805	NM_004629.2(FANCG):c.957G>C (p.Pro319=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
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 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 239969	NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)	FANCG (G294E)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 847372	NM_004629.2(FANCG):c.833C>T (p.Ala278Val)	FANCG (A278V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 570877	NM_004629.2(FANCG):c.787C>G (p.Gln263Glu)	FANCG (Q263E)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 802484	NM_004629.2(FANCG):c.770G>A (p.Arg257His)	FANCG (R257H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
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 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 702766	NM_004629.2(FANCG):c.729T>C (p.Pro243=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G +1 more	GLikely benign
Select item 841536	NM_004629.2(FANCG):c.704C>T (p.Ala235Val)	FANCG (A235V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
Select item 366736	NM_004629.2(FANCG):c.682G>A (p.Ala228Thr)	FANCG (A228T)	Single nucleotide variant (missense variant)	Fanconi anemia +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 640953	NM_004629.2(FANCG):c.635C>T (p.Ala212Val)	FANCG (A212V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
Select item 929685	NM_004629.2(FANCG):c.620del (p.Leu207fs)	FANCG (L207fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
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 699366	NM_004629.2(FANCG):c.511-6dup	FANCG	Duplication (intron variant)	Fanconi anemia +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 456237	NM_004629.2(FANCG):c.500A>G (p.Asn167Ser)	FANCG (N167S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +2 more	GUncertain significance
Select item 239968	NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)	FANCG (A160T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 456236	NM_004629.2(FANCG):c.464G>A (p.Arg155His)	FANCG (R155H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	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 239967	NM_004629.2(FANCG):c.421C>T (p.Arg141Cys)	FANCG (R141C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 940932	NM_004629.2(FANCG):c.398C>T (p.Pro133Leu)	FANCG (P133L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 639001	NM_004629.2(FANCG):c.380G>A (p.Arg127His)	FANCG (R127H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 6712	NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)	FANCG (E105*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic
Select item 239966	NM_004629.2(FANCG):c.293G>A (p.Arg98Gln)	FANCG (R98Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 239965	NM_004629.2(FANCG):c.238C>T (p.Leu80=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G +1 more	GBenign/Likely benign
Select item 843841	NM_004629.2(FANCG):c.178C>T (p.Leu60Phe)	FANCG (L60F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +2 more	GUncertain significance
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 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 929672	NM_004629.2(FANCG):c.85-1G>A	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 414812	NM_004629.2(FANCG):c.81C>T (p.Ala27=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 134357	NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)	FANCG (Q26R)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 135544	NM_004629.2(FANCG):c.-1C>T	FANCG	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group G	GUncertain significance

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Items: 69