ClinVar for OMIM (Select 603523) - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062364	NM_138295.5(PKD1L1):c.6549G>T (p.Gln2183His)	PKD1L1 (Q2183H)	Single nucleotide variant (missense variant)	Congenital chylothorax	GUncertain significance
Select item 3062363	NM_138295.5(PKD1L1):c.1543G>A (p.Gly515Arg)	PKD1L1 (G515R)	Single nucleotide variant (missense variant)	Congenital chylothorax	GUncertain significance
Select item 1285159	NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu)	PKD1L1 (V1282E)	Single nucleotide variant (missense variant)	Congenital chylothorax +3 more	GUncertain significance

Format

Sort by

Choose Destination

ClinVar