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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1313506	NM_002143.3(HPCA):c.340G>A (p.Gly114Ser)	HPCA (G114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300335	NM_002143.3(HPCA):c.378+285del	HPCA	Deletion (intron variant)	not provided	GLikely benign
Select item 1269560	NM_002143.3(HPCA):c.379-260C>T	HPCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326225	NM_002143.3(HPCA):c.379-217G>T	HPCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301148	NM_002143.3(HPCA):c.484+32G>C	HPCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1307001	NM_002143.3(HPCA):c.502G>C (p.Glu168Gln)	HPCA (E168Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328811	NM_002143.3(HPCA):c.*213T>C	HPCA	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

ClinVar