"Genome-Nilou Lab"[submitter] AND "TJP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196398	NM_004817.4(TJP2):c.239+19T>C	TJP2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 44091	NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)	TJP2 (D482E +4 more)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +3 more	GBenign
Select item 1281420	NM_004817.4(TJP2):c.1672-27del	TJP2	Deletion (intron variant)	Cholestasis, progressive familial intrahepatic, 4 +2 more	GBenign
Select item 1235422	NM_004817.4(TJP2):c.2180-34G>A	TJP2	Single nucleotide variant (intron variant)	Hypercholanemia, familial 1 +2 more	GBenign
Select item 44105	NM_004817.4(TJP2):c.2715C>T (p.Thr905=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	Hypercholanemia, familial 1 +3 more	GBenign
Select item 44106	NM_004817.4(TJP2):c.2727G>A (p.Ala909=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	Hypercholanemia, familial 1 +3 more	GBenign
Select item 259554	NM_004817.4(TJP2):c.2992-19G>A	TJP2	Single nucleotide variant (intron variant)	Cholestasis, progressive familial intrahepatic, 4 +3 more	GBenign

ClinVar