"FANCE-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047795	NM_021922.3(FANCE):c.-4C>T	FANCE, LOC129996245	Single nucleotide variant (5 prime UTR variant)	FANCE-related disorder	GLikely benign
Select item 2632785	NM_021922.3(FANCE):c.57G>A (p.Trp19Ter)	FANCE, LOC129996245 (W19*)	Single nucleotide variant (nonsense)	FANCE-related disorder	GLikely pathogenic
Select item 1327103	NM_021922.3(FANCE):c.104C>T (p.Ala35Val)	FANCE, LOC129996245 (A35V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GConflicting classifications of pathogenicity
Select item 134330	NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)	FANCE, LOC129996245 (P77T)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 414820	NM_021922.3(FANCE):c.246G>A (p.Glu82=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	FANCE-related disorder +1 more	GLikely benign
Select item 539301	NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)	FANCE (Q95R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +3 more	GConflicting classifications of pathogenicity
Select item 695965	NM_021922.3(FANCE):c.522G>A (p.Gly174=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 356446	NM_021922.3(FANCE):c.552A>C (p.Pro184=)	FANCE	Single nucleotide variant (synonymous variant)	FANCE-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1691919	NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)	FANCE (R219K)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 356447	NM_021922.3(FANCE):c.696G>A (p.Glu232=)	FANCE	Single nucleotide variant (synonymous variant)	FANCE-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 210982	NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)	FANCE (G246del)	Microsatellite (inframe_deletion)	Fanconi anemia +4 more	GBenign/Likely benign
Select item 1105908	NM_021922.3(FANCE):c.951C>T (p.His317=)	FANCE	Single nucleotide variant (synonymous variant)	FANCE-related disorder +1 more	GLikely benign
Select item 1106220	NM_021922.3(FANCE):c.1062T>C (p.Asp354=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GLikely benign
Select item 697123	NM_021922.3(FANCE):c.1114-4G>A	FANCE	Single nucleotide variant (intron variant)	FANCE-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1439323	NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe)	FANCE (L402F)	Single nucleotide variant (missense variant)	FANCE-related disorder +1 more	GUncertain significance
Select item 1019435	NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr)	FANCE (N519T)	Single nucleotide variant (missense variant)	FANCE-related disorder +1 more	GUncertain significance
Select item 471923	NM_021922.3(FANCE):c.1591T>A (p.Leu531Met)	FANCE (L531M)	Single nucleotide variant (missense variant)	FANCE-related disorder +1 more	GUncertain significance
Select item 1529913	NM_021922.3(FANCE):c.1608C>G (p.Pro536=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E +1 more	GLikely benign