"GeneDx"[submitter] AND "WDR91"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 1263809	NM_014149.4(WDR91):c.2028G>A (p.Ser676=)	WDR91	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2502091	NM_014149.4(WDR91):c.1768+1G>A	WDR91	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2504880	NM_014149.4(WDR91):c.698A>G (p.Asn233Ser)	WDR91 (N233S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3365517	NM_014149.4(WDR91):c.374G>C (p.Trp125Ser)	LOC126860191, WDR91 (W125S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2504879	NM_014149.4(WDR91):c.65C>T (p.Thr22Met)	LOC129999422, WDR91 (T22M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

ClinVar