"GeneDx"[submitter] AND "LOC126860554"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 145908	GRCh38/hg38 9p24.3(chr9:534531-805606)x3	KANK1, LOC124210605 +3 more	Copy number gain	See cases	GLikely benign
Select item 1250957	NM_015158.5(KANK1):c.3334-230T>C	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248129	NM_015158.5(KANK1):c.3334-47G>A	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317372	NM_015158.5(KANK1):c.3334-35A>G	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787064	NM_015158.5(KANK1):c.3372C>T (p.Arg1124=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 733907	NM_015158.5(KANK1):c.3477C>T (p.Asp1159=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1166353	NM_015158.5(KANK1):c.3483C>T (p.Asn1161=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1317412	NM_015158.5(KANK1):c.3553+133A>G	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar