C4551480[trait identifier] AND "Daryl Scott Lab, Baylor College of Med - 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 198348	NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)	FRAS1 (R3269Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GBenign/Likely benign
Select item 2628330	NM_207361.6(FREM2):c.215T>C (p.Ile72Thr)	FREM2 (I72T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance