"Baylor Genetics"[submitter] AND "FRAS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197861	NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)	FRAS1 (R124*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1028866	NM_025074.7(FRAS1):c.784G>A (p.Gly262Arg)	FRAS1 (G262R)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1028864	NM_025074.7(FRAS1):c.1810A>G (p.Arg604Gly)	FRAS1 (R604G)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1028865	NM_025074.7(FRAS1):c.2869+1G>A	FRAS1	Single nucleotide variant (splice donor variant)	Fraser syndrome 1	GLikely pathogenic
Select item 1027394	NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter)	FRAS1 (W1420*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2441836	NM_025074.7(FRAS1):c.4540+752A>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GUncertain significance
Select item 499147	NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)	FRAS1 (R1709*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2441786	NM_025074.7(FRAS1):c.8922del (p.Asp2975fs)	FRAS1 (D2975fs)	Deletion (frameshift variant)	Fraser syndrome 1	GPathogenic

ClinVar