"Baylor Genetics"[submitter] AND "LOC129996245"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675550	NM_021922.3(FANCE):c.24_33del (p.Pro9fs)	FANCE, LOC129996245 (P9fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 858230	NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)	FANCE, LOC129996245 (P18L)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2675533	NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)	FANCE, LOC129996245 (Q34*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic/Likely 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	GUncertain significance
Select item 2675552	NM_021922.3(FANCE):c.117_136del (p.Arg41fs)	FANCE, LOC129996245 (R41fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675542	NM_021922.3(FANCE):c.118del (p.Ala40fs)	FANCE, LOC129996245 (A40fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 2675554	NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)	FANCE, LOC129996245 (L44fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 471924	NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)	FANCE, LOC129996245 (R69Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3241583	NM_021922.3(FANCE):c.248+1G>C	FANCE, LOC129996245	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 2675553	NM_021922.3(FANCE):c.248+1G>T	FANCE, LOC129996245	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 1066582	NM_021922.3(FANCE):c.248+1del	FANCE, LOC129996245	Deletion (splice donor variant)	Fanconi anemia complementation group E	GLikely pathogenic
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