C3160738[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342254	NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)	FANCD2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 456361	NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)	FANCD2, LOC107303338 (Q26H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 456349	NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)	FANCD2, LOC107303338 (T61M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 134319	NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)	FANCD2, LOC107303338 (Q65H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 414653	NM_001018115.3(FANCD2):c.205+9T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +2 more	GBenign
Select item 435142	NM_001018115.3(FANCD2):c.246C>T (p.Thr82=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 342257	NM_001018115.3(FANCD2):c.491+10G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1338037	NM_001018115.3(FANCD2):c.531C>G (p.Val177=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 456360	NM_001018115.3(FANCD2):c.672C>T (p.His224=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D2 +2 more	GConflicting classifications of pathogenicity
Select item 640600	NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val)	LOC107303338, FANCD2 (I273V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1337974	NM_001018115.3(FANCD2):c.888+9T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 134310	NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)	FANCD2, LOC107303338 (R328Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 257065	NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +5 more	GBenign
Select item 414648	NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)	FANCD2, LOC107303338 (H377R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 695992	NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 435148	NM_001018115.3(FANCD2):c.1201del (p.Arg401fs)	LOC107303338, FANCD2 (R401fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 241731	NM_001018115.3(FANCD2):c.1414-9C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 647630	NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys)	FANCD2, LOC107303338 (Y534C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 134312	NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)	FANCD2, LOC107303338 (N545S)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 134313	NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)	LOC107303338, FANCD2 (P593S +1 more)	Single nucleotide variant (missense variant)	FANCD2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 414654	NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 134315	NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)	FANCD2, LOC107303338 (P714L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +5 more	GBenign/Likely benign
Select item 456351	NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)	FANCD2, LOC107303338 (C758S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 902058	NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)	FANCD2, LOC107303338 (P722L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 435145	NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser)	FANCD2, LOC107303338 (N791S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 414647	NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 241736	NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg)	FANCD2, LOC107303338 (P852R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 342370	NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)	FANCD2, LOC107303338 (K871N +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 667394	NM_001018115.3(FANCD2):c.2715+1G>A	LOC107303338, FANCD2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 210980	NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys)	FANCD2, LOC107303338 (S934C +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 407784	NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)	FANCD2, LOC107303338 (I935L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +3 more	GUncertain significance
Select item 342372	NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 577043	NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)	FANCD2, LOC107303338 (V958M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 698349	NM_001018115.3(FANCD2):c.3466+10C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +2 more	GConflicting classifications of pathogenicity
Select item 1298904	NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)	FANCD2, FANCD2OS (Q1124* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 435147	NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)	FANCD2OS, FANCD2	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group D2 +3 more	GConflicting classifications of pathogenicity
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 +2 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 +1 more	GUncertain significance
Select item 1049571	NM_001018115.3(FANCD2):c.4281+69G>A	FANCD2, FANCD2OS (W1437* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GUncertain significance
Select item 849509	NM_001018115.3(FANCD2):c.4281+107T>C	FANCD2OS, FANCD2 (L1450P +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +3 more	GUncertain significance
Select item 134329	NM_001018115.3(FANCD2):c.4281+115C>A	FANCD2, FANCD2OS (P1466T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign

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Items: 42