"Ambry Genetics"[submitter] AND "FANCD2"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2288730	NM_001018115.3(FANCD2):c.20T>A (p.Leu7Gln)	FANCD2 (L7Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555313	NM_001018115.3(FANCD2):c.89A>G (p.Lys30Arg)	FANCD2, LOC107303338 (K30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277660	NM_001018115.3(FANCD2):c.131A>G (p.Asn44Ser)	FANCD2, LOC107303338 (N44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547931	NM_001018115.3(FANCD2):c.296G>A (p.Gly99Asp)	FANCD2, LOC107303338 (G99D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 407781	NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val)	FANCD2, LOC107303338 (I104V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 2443524	NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)	FANCD2, LOC107303338 (A129V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1037982	NM_001018115.3(FANCD2):c.796G>A (p.Val266Met)	FANCD2, LOC107303338 (V266M)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1436760	NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val)	FANCD2, LOC107303338 (L270V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +3 more	GUncertain significance
Select item 1057753	NM_001018115.3(FANCD2):c.836C>T (p.Pro279Leu)	FANCD2, LOC107303338 (P279L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1902242	NM_001018115.3(FANCD2):c.923A>G (p.Gln308Arg)	FANCD2, LOC107303338 (Q308R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 3092791	NM_001018115.3(FANCD2):c.1014C>G (p.Ser338Arg)	FANCD2, LOC107303338 (S338R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1487062	NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser)	FANCD2, LOC107303338 (G339S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +2 more	GConflicting classifications of pathogenicity
Select item 1050596	NM_001018115.3(FANCD2):c.1166A>G (p.Tyr389Cys)	FANCD2, LOC107303338 (Y389C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 342266	NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met)	FANCD2, LOC107303338 (T467M)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 985042	NM_001018115.3(FANCD2):c.1449del (p.Ser483fs)	FANCD2, LOC107303338 (S483fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1052948	NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile)	FANCD2, LOC107303338 (V489I)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 3092792	NM_001018115.3(FANCD2):c.1481A>G (p.Asp494Gly)	FANCD2, LOC107303338 (D494G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399772	NM_001018115.3(FANCD2):c.1510C>G (p.Pro504Ala)	FANCD2, LOC107303338 (P504A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325278	NM_001018115.3(FANCD2):c.1597T>G (p.Phe533Val)	FANCD2, LOC107303338 (F533V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484178	NM_001018115.3(FANCD2):c.1652T>C (p.Ile551Thr)	FANCD2, LOC107303338 (I551T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477928	NM_001018115.3(FANCD2):c.1742T>C (p.Met581Thr)	FANCD2, LOC107303338 (M544T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277663	NM_001018115.3(FANCD2):c.1901A>G (p.Glu634Gly)	FANCD2, LOC107303338 (E597G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 582213	NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His)	FANCD2, LOC107303338 (Q640H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1810012	NM_001018115.3(FANCD2):c.1936C>G (p.Pro646Ala)	FANCD2, LOC107303338 (P609A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2608185	NM_001018115.3(FANCD2):c.1971T>G (p.Cys657Trp)	FANCD2, LOC107303338 (C620W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050090	NM_001018115.3(FANCD2):c.1996G>A (p.Val666Met)	FANCD2, LOC107303338 (V629M +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 851535	NM_001018115.3(FANCD2):c.2015C>T (p.Pro672Leu)	FANCD2, LOC107303338 (P672L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 861435	NM_001018115.3(FANCD2):c.2116C>G (p.Gln706Glu)	FANCD2, LOC107303338 (Q669E +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1366593	NM_001018115.3(FANCD2):c.2336G>A (p.Arg779His)	FANCD2, LOC107303338 (R779H +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1058412	NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr)	LOC107303338, FANCD2 (M745T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1413172	NM_001018115.3(FANCD2):c.2348G>A (p.Cys783Tyr)	FANCD2, LOC107303338 (C746Y +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1016926	NM_001018115.3(FANCD2):c.2420A>T (p.Glu807Val)	FANCD2, LOC107303338 (E770V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 902940	NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn)	LOC107303338, FANCD2 (K811N +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 3277661	NM_001018115.3(FANCD2):c.2455A>T (p.Ile819Phe)	FANCD2, LOC107303338 (I819F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613194	NM_001018115.3(FANCD2):c.2465T>A (p.Leu822Ter)	FANCD2, LOC107303338 (L822* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2613195	NM_001018115.3(FANCD2):c.2467C>A (p.Gln823Lys)	FANCD2, LOC107303338 (Q786K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551657	NM_001018115.3(FANCD2):c.2966C>T (p.Pro989Leu)	FANCD2, LOC107303338 (P989L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1366976	NM_001018115.3(FANCD2):c.2986A>G (p.Ser996Gly)	FANCD2 (S959G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 3092795	NM_001018115.3(FANCD2):c.3172A>G (p.Met1058Val)	FANCD2, FANCD2OS (M1021V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271291	NM_001018115.3(FANCD2):c.3235T>A (p.Ser1079Thr)	FANCD2, FANCD2OS (S1042T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3277662	NM_001018115.3(FANCD2):c.3388T>C (p.Cys1130Arg)	FANCD2, FANCD2OS (C1093R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1411701	NM_001018115.3(FANCD2):c.3416T>C (p.Met1139Thr)	FANCD2, FANCD2OS (M1102T +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 526384	NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln)	FANCD2, FANCD2OS (R1165Q +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 526394	NM_001018115.3(FANCD2):c.3535A>G (p.Asn1179Asp)	FANCD2, FANCD2OS (N1179D +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 2495358	NM_001018115.3(FANCD2):c.3565T>C (p.Tyr1189His)	FANCD2, FANCD2OS (Y1189H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1354183	NM_001018115.3(FANCD2):c.3638A>G (p.Asn1213Ser)	FANCD2, FANCD2OS (N1213S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1001819	NM_001018115.3(FANCD2):c.3639C>G (p.Asn1213Lys)	FANCD2, FANCD2OS (N1176K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 12038	NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)	FANCD2, FANCD2OS (R1236H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1005230	NM_001018115.3(FANCD2):c.3751C>G (p.Pro1251Ala)	FANCD2, FANCD2OS (P1214A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2212004	NM_001018115.3(FANCD2):c.3829A>G (p.Ile1277Val)	FANCD2, FANCD2OS (I1277V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1442308	NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)	FANCD2OS, FANCD2 (V1293I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1021428	NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His)	FANCD2OS, FANCD2 (R1262H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2443577	NM_001018115.3(FANCD2):c.3946A>C (p.Ser1316Arg)	FANCD2, FANCD2OS (S1279R +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 2318694	NM_001018115.3(FANCD2):c.4065A>T (p.Gln1355His)	FANCD2, FANCD2OS (Q1318H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1053893	NM_001018115.3(FANCD2):c.4175G>A (p.Arg1392Gln)	FANCD2, FANCD2OS (R1355Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 849509	NM_001018115.3(FANCD2):c.4281+107T>C	FANCD2, FANCD2OS (L1450P +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +3 more	GUncertain significance

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Items: 56