C2931067[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973543	NM_004817.4(TJP2):c.239+1G>A	TJP2	Single nucleotide variant (splice donor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic/Likely pathogenic
Select item 973544	NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer)	TJP2	Deletion (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic/Likely pathogenic