"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FANCD2OS"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1513581	NM_001018115.3(FANCD2):c.3106-13T>G	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +2 more	GConflicting classifications of pathogenicity
Select item 1118340	NM_001018115.3(FANCD2):c.3126C>T (p.His1042=)	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 948989	NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser)	FANCD2, FANCD2OS (G1043S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 844211	NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu)	FANCD2, FANCD2OS (V1050E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 456355	NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=)	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +2 more	GLikely benign
Select item 1489289	NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg)	FANCD2, FANCD2OS (H1070R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 809378	NM_001018115.3(FANCD2):c.3224+1G>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 1020720	NM_001018115.3(FANCD2):c.3224+8T>A	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +1 more	GConflicting classifications of pathogenicity
Select item 1400313	NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly)	FANCD2, FANCD2OS (S1076G +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1442397	NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly)	FANCD2, FANCD2OS (R1099G +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 407783	NM_001018115.3(FANCD2):c.3418G>A (p.Val1140Ile)	FANCD2, FANCD2OS (V1140I +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1449209	NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val)	FANCD2, FANCD2OS (I1141V +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 699707	NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +1 more	GLikely benign
Select item 699708	NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +1 more	GLikely benign
Select item 1595401	NM_001018115.3(FANCD2):c.3466+9C>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 407786	NM_001018115.3(FANCD2):c.3524G>A (p.Ser1175Asn)	FANCD2, FANCD2OS (S1175N +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1366625	NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser)	FANCD2, FANCD2OS (N1139S +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1601534	NM_001018115.3(FANCD2):c.3560+20C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GBenign/Likely benign
Select item 1449419	NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe)	FANCD2, FANCD2OS (I1203F +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 342375	NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu)	FANCD2, FANCD2OS (K1216E +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 801931	NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys)	FANCD2, FANCD2OS (R1199C +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 342376	NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met)	FANCD2OS, FANCD2 (T1245M +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1409405	NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu)	FANCD2, FANCD2OS (S1257L +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 257080	NM_001018115.3(FANCD2):c.3850-17G>T	FANCD2OS, FANCD2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
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 854048	NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg)	FANCD2, FANCD2OS (H1320R +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +2 more	GUncertain significance
Select item 571261	NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro)	FANCD2, FANCD2OS (R1321P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1669819	NM_001018115.3(FANCD2):c.3963+11A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 456358	NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met)	FANCD2, FANCD2OS (L1325M +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 414649	NM_001018115.3(FANCD2):c.4038+8G>A	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GBenign/Likely benign
Select item 456359	NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met)	FANCD2OS, FANCD2 (T1351M +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1692053	NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser)	FANCD2, FANCD2OS (N1351S +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1438608	NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys)	FANCD2OS, FANCD2 (E1360K +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1114398	NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=)	FANCD2OS, FANCD2	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group D2 +1 more	GBenign/Likely benign
Select item 342380	NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)	FANCD2, FANCD2OS	Deletion (intron variant)	Fanconi anemia complementation group A +5 more	GUncertain significance
Select item 241739	NM_001018115.3(FANCD2):c.4281+22_4281+29del	FANCD2, FANCD2OS (E1435fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1008533	NM_001018115.3(FANCD2):c.4281+37G>A	FANCD2, FANCD2OS (G1427S +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1049571	NM_001018115.3(FANCD2):c.4281+69G>A	FANCD2OS, FANCD2 (W1437* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GUncertain significance
Select item 414656	NM_001018115.3(FANCD2):c.4281+81G>A	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +2 more	GLikely benign
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
Select item 1692538	NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys)	FANCD2, FANCD2OS (E1396K +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance

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Items: 42