C1845146[trait identifier] AND "Institute of Human Genetics, Universit - 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 432990	NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)	FGFR1 (R507H +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +7 more	GUncertain significance
Select item 983019	NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg)	FGFR1 (G406R +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +6 more	GUncertain significance