C3160738[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1322879	NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)	FANCD2, LOC107303338 (K33fs)	Deletion (frameshift 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 1324377	NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)	FANCD2, LOC107303338 (E169*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
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 1224543	NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)	FANCD2, LOC107303338 (R408*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
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 2441345	NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)	FANCD2, LOC107303338 (S542N)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2	GUncertain significance
Select item 2441346	NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)	FANCD2, LOC107303338 (G540S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 1322878	NM_001018115.3(FANCD2):c.2160del (p.Gly721fs)	LOC107303338, FANCD2 (G684fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 1322885	NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)	FANCD2, LOC107303338 (R757* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
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 526371	NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)	FANCD2, LOC107303338 (Y829* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +2 more	GPathogenic/Likely pathogenic
Select item 265138	NM_001018115.3(FANCD2):c.2605+1G>A	FANCD2, LOC107303338 +1 more	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
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 2690599	NM_001018115.3(FANCD2):c.2778_2779delinsGT (p.Glu927Ter)	FANCD2, LOC107303338 (E890* +1 more)	Indel (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1224524	NM_001018115.3(FANCD2):c.2976+5G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +2 more	GConflicting classifications of pathogenicity
Select item 1322882	NM_001018115.3(FANCD2):c.2977-2A>G	FANCD2	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GPathogenic
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 1322880	NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)	FANCD2, FANCD2OS (Q1063fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1324380	NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs)	FANCD2, FANCD2OS (S1090fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 929666	NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)	FANCD2, FANCD2OS (N1114fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2 +1 more	GPathogenic
Select item 1322883	NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter)	FANCD2, FANCD2OS (W1130* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GPathogenic
Select item 1324381	NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)	FANCD2, FANCD2OS (R1236* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2 +2 more	GPathogenic/Likely pathogenic

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Items: 24