"Dan Cohn Lab, University Of California Los Angeles"[submitter] AND "W - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446645	NM_020779.4(WDR35):c.2489A>T (p.Asp830Val)	WDR35 (D841V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 65619	NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	WDR35 (L641* +1 more)	Single nucleotide variant (nonsense)	WDR35-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 446643	NM_020779.4(WDR35):c.1400+3A>G	WDR35	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 288569	NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)	WDR35 (N395Y)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +4 more	GConflicting classifications of pathogenicity
Select item 446644	NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)	WDR35 (W311L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 431796	NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)	WDR35 (G69D)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GPathogenic/Likely pathogenic

ClinVar