C1843139[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 364255	NM_001701.4(BAAT):c.*1316A>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial	GUncertain significance
Select item 364257	NM_001701.4(BAAT):c.*1205del	BAAT	Deletion (3 prime UTR variant)	Hypercholanemia, familial	GUncertain significance
Select item 364258	NM_001701.4(BAAT):c.*1173TA[1]	BAAT	Microsatellite (3 prime UTR variant)	Hypercholanemia, familial	GLikely benign
Select item 364259	NM_001701.4(BAAT):c.*1164C>T	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial	GUncertain significance
Select item 364269	NM_001701.4(BAAT):c.*787T>C	BAAT	Single nucleotide variant (3 prime UTR variant)	Hypercholanemia, familial	GUncertain significance
Select item 364277	NM_001701.4(BAAT):c.797T>C (p.Ile266Thr)	BAAT (I266T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar