C2931384[trait identifier] AND "University of Washington Center for Me - 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 559598	NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)	GUCY1A1 (E112fs)	Microsatellite (frameshift variant +1 more)	See cases	GUncertain significance
Select item 559596	NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)	GUCY1A1 (R420* +2 more)	Single nucleotide variant (nonsense)	Moyamoya disease 1 +1 more	GPathogenic
Select item 559597	NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)	GUCY1A1 (C517Y +2 more)	Single nucleotide variant (missense variant)	Moyamoya disease 1 +1 more	GPathogenic

Format

Sort by

Choose Destination