"GeneDx"[submitter] AND "LOC121627832"[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 2421530	NM_001083962.2(TCF4):c.1370A>G (p.Asp457Gly)	LOC121627832, TCF4 (D241G +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388952	NM_001083962.2(TCF4):c.1351-17T>A	LOC121627832, TCF4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 139408	NM_001083962.2(TCF4):c.1351-19G>A	LOC121627832, TCF4	Single nucleotide variant (intron variant)	See cases +3 more	GBenign/Likely benign
Select item 670814	NM_001083962.2(TCF4):c.1351-84_1351-81dup	LOC121627832, TCF4	Duplication (intron variant)	not provided	GLikely benign
Select item 1191687	NM_001083962.2(TCF4):c.1351-153G>C	LOC121627832, TCF4	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar