"GeneDx"[submitter] AND "LOC126862761"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 1232773	NM_001374385.1(ATP8B1):c.1029+245C>T	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244499	NM_001374385.1(ATP8B1):c.1029+63C>T	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180244	NM_001374385.1(ATP8B1):c.1029+36G>A	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384899	NM_001374385.1(ATP8B1):c.1029+19A>C	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 386015	NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)	LOC126862761, ATP8B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 489152	NM_001374385.1(ATP8B1):c.941-20A>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity

ClinVar