C3160739[trait identifier] AND "Leiden Open Variation Database"[submit - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356437	NM_021922.3(FANCE):c.-105C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 929569	NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)	FANCE, LOC129996245 (Q31*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 929570	NM_021922.3(FANCE):c.248+1G>A	FANCE, LOC129996245	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8709	NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)	FANCE (Q119*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 261435	NM_021922.3(FANCE):c.387A>C (p.Pro129=)	FANCE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 8710	NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)	FANCE (R141*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 929573	NM_021922.3(FANCE):c.436del (p.Val146fs)	FANCE (V146fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GPathogenic
Select item 929574	NM_021922.3(FANCE):c.551C>A (p.Pro184Gln)	FANCE (P184Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 134333	NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)	FANCE (S204L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 261436	NM_021922.3(FANCE):c.900+39A>G	FANCE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 655390	NM_021922.3(FANCE):c.929dup (p.Val311fs)	FANCE (V311fs)	Duplication (frameshift variant)	Fanconi anemia complementation group E +1 more	GPathogenic/Likely pathogenic
Select item 134340	NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)	FANCE (G340R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 929578	NM_021922.3(FANCE):c.1066A>G (p.Ser356Gly)	FANCE (S356G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 261432	NM_021922.3(FANCE):c.1071C>T (p.Leu357=)	FANCE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 929579	NM_021922.3(FANCE):c.1094G>A (p.Arg365Lys)	FANCE (R365K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 566449	NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	FANCE (R371W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8711	NM_021922.3(FANCE):c.1114-8G>A	FANCE	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 261433	NM_021922.3(FANCE):c.1316+19G>A	FANCE	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 134345	NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)	FANCE (A502T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 929581	NM_021922.3(FANCE):c.1510-1G>A	FANCE	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group E	GConflicting classifications of pathogenicity

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Items: 20