C5193043[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438742	NM_018669.6(WDR4):c.940dup (p.Leu314fs)	WDR4 (L168fs +2 more)	Duplication (frameshift variant +1 more)	Galloway-Mowat syndrome 6	GPathogenic
Select item 619602	NM_018669.6(WDR4):c.911_927dup (p.Gln310fs)	WDR4 (Q164fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 619601	NM_018669.6(WDR4):c.509G>A (p.Arg170Gln)	WDR4 (R170Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 619600	NM_018669.6(WDR4):c.509G>T (p.Arg170Leu)	WDR4 (R170L +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, growth deficiency, seizures, and brain malformations +1 more	GConflicting classifications of pathogenicity
Select item 438741	NM_018669.6(WDR4):c.491A>C (p.Asp164Ala)	WDR4 (D164A +1 more)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 6	GPathogenic
Select item 619605	NM_018669.6(WDR4):c.454-2A>C	WDR4	Single nucleotide variant (splice acceptor variant)	Galloway-Mowat syndrome	GLikely pathogenic

ClinVar