"Baylor Genetics"[submitter] AND "WDR73"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031002	NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys)	WDR73 (R378C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2442033	NM_032856.5(WDR73):c.928G>T (p.Gly310Ter)	WDR73 (G310*)	Single nucleotide variant (nonsense +1 more)	Galloway-Mowat syndrome 1	GUncertain significance
Select item 2441757	NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)	WDR73 (W209C)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 1	GUncertain significance
Select item 985008	NM_032856.5(WDR73):c.626G>A (p.Trp209Ter)	WDR73 (W209*)	Single nucleotide variant (nonsense +1 more)	Galloway-Mowat syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1034165	NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del)	WDR73 (D35del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 625752	GRCh37/hg19 15q25.2-25.3(chr15:85147499-85681120)	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic

ClinVar