"Leiden Open Variation Database"[submitter] AND "FANCD2"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929652	NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr)	FANCD2 (M1T)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2	GPathogenic
Select item 929641	NM_001018115.3(FANCD2):c.206-2A>T	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 929642	NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)	FANCD2, LOC107303338 (S126G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GPathogenic
Select item 577155	NM_001018115.3(FANCD2):c.491+1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 929643	NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg)	FANCD2, LOC107303338 (L231R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 929644	NM_001018115.3(FANCD2):c.696-121C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely pathogenic
Select item 929645	NM_001018115.3(FANCD2):c.696-2A>T	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 653154	NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)	FANCD2, LOC107303338 (R253*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 929646	NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	FANCD2, LOC107303338 (K261M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 929648	NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del)	FANCD2, LOC107303338 (S272del)	Microsatellite (inframe_deletion)	Fanconi anemia	GUncertain significance
Select item 12040	NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)	FANCD2, LOC107303338 (R302W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 12041	NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)	LOC107303338, FANCD2 (Q320*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic
Select item 929649	NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter)	FANCD2, LOC107303338 (W364*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GPathogenic
Select item 929650	NM_001018115.3(FANCD2):c.1278+6T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 929651	NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)	FANCD2, LOC107303338 (V427F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 929654	NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs)	FANCD2, LOC107303338 (S441fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 134311	NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)	FANCD2, LOC107303338 (L456R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 929655	NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)	FANCD2, LOC107303338 (L457P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 929656	NM_001018115.3(FANCD2):c.1414-69_1545+258del	FANCD2, LOC107303338	Deletion (splice acceptor variant +1 more)	Fanconi anemia complementation group D2	GPathogenic
Select item 929659	NM_001018115.3(FANCD2):c.1948-16T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 929660	NM_001018115.3(FANCD2):c.1948-6C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929661	NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)	FANCD2, LOC107303338 (Q765* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 241735	NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)	FANCD2, LOC107303338 (R815Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 929662	NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)	FANCD2, LOC107303338 (E851fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 667394	NM_001018115.3(FANCD2):c.2715+1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GPathogenic
Select item 929663	NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter)	FANCD2, LOC107303338 (R889* +1 more)	Indel (nonsense)	Fanconi anemia complementation group D2	GPathogenic
Select item 929664	NM_001018115.3(FANCD2):c.2835dup (p.Asp947fs)	FANCD2, LOC107303338 (D910fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 929665	NM_001018115.3(FANCD2):c.2917_2918del (p.Ser973fs)	FANCD2, LOC107303338 (S936fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 929666	NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)	FANCD2, FANCD2OS (N1114fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia +1 more	GPathogenic
Select item 929667	NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs)	FANCD2OS, FANCD2 (I1163fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2	GPathogenic
Select item 929668	NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser)	FANCD2, FANCD2OS (R1199S +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2	GPathogenic
Select item 12038	NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)	FANCD2, FANCD2OS (R1236H +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +2 more	GPathogenic/Likely pathogenic
Select item 929669	NM_001018115.3(FANCD2):c.3802T>G (p.Trp1268Gly)	FANCD2, FANCD2OS (W1231G +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2	GUncertain significance
Select item 929670	NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)	FANCD2, FANCD2OS (W1231* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia +1 more	GPathogenic
Select item 929658	NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del	FANCD2	Deletion	Fanconi anemia complementation group D2	GPathogenic
Select item 929657	NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del	FANCD2	Deletion	Fanconi anemia complementation group D2	GPathogenic
Select item 929653	NC_000003.12:g.(10028722_10032831)_(10049506_10052386)del	FANCD2	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 929647	NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup	FANCD2	Duplication	Fanconi anemia complementation group D2	GPathogenic

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Items: 38