ClinVar for Gene (Select 123477810) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267201	NC_000004.10:g.111994000_115504000del3510001	LOC129992997, LOC129992998 +77 more	Deletion	Congenital aniridia	GPathogenic
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 57341	GRCh38/hg38 4q25-26(chr4:112689224-113436470)x3	ANK2, LOC112935975 +11 more	Copy number gain	See cases	GUncertain significance

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