"Counsyl"[submitter] AND "LOC132090450"[gene] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557812	NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)	FANCA, LOC132090450 (F1135fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 557681	NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter)	FANCA, LOC132090450 (Q1128*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic