ClinVar (all) for Orgtrack (Select 507123) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from Orgtrack

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184734	NM_138694.4(PKHD1):c.8743G>T (p.Glu2915Ter)	PKHD1 (E2915X)	Single nucleotide variant (nonsense)	Pregnancy loss, recurrent, susceptibility to, 3	GPathogenic
Select item 684614	NM_017419.3(ASIC5):c.680G>T (p.Arg227Ile)	ASIC5 (R227I)	Single nucleotide variant (missense variant)	Pregnancy loss, recurrent, susceptibility to, 3	GPathogenic