"Molecular Genetics laboratory, Necker Hospital"[submitter] AND "FRAS1 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328410	NM_025074.7(FRAS1):c.879C>G (p.Tyr293Ter)	FRAS1 (Y293*)	Single nucleotide variant (nonsense)	Renal agenesis	GPathogenic
Select item 1328421	NM_025074.7(FRAS1):c.1176C>G (p.Tyr392Ter)	FRAS1 (Y392*)	Single nucleotide variant (nonsense)	Renal agenesis	GPathogenic
Select item 1328428	NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter)	FRAS1 (Q1211*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 1328430	NM_025074.7(FRAS1):c.5857-5A>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GLikely pathogenic
Select item 1328429	NM_025074.7(FRAS1):c.6342del (p.Met2115fs)	FRAS1 (M2115fs)	Deletion (frameshift variant)	Fraser syndrome 1	GLikely pathogenic
Select item 1328427	NM_025074.7(FRAS1):c.7747C>T (p.Gln2583Ter)	FRAS1 (Q2583*)	Single nucleotide variant (nonsense)	Renal agenesis	GPathogenic

ClinVar