"The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805845	NM_004817.4(TJP2):c.115-2A>C	TJP2	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805842	NM_004817.4(TJP2):c.115-1G>A	TJP2	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805835	NM_004817.4(TJP2):c.236T>G (p.Leu79Arg)	TJP2 (L110R +3 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 694274	NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter)	TJP2 (R334* +3 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 805844	NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter)	TJP2 (R389* +3 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805840	NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter)	TJP2 (S408* +3 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805836	NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser)	TJP2 (L500S +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 805837	NM_004817.4(TJP2):c.1672-1G>A	TJP2	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 632045	NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)	TJP2 (R632* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4 +1 more	GPathogenic
Select item 805843	NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter)	TJP2 (R700* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805841	NM_004817.4(TJP2):c.2180-5T>G	TJP2	Single nucleotide variant (intron variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 805838	NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)	TJP2 (G712S +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +1 more	GPathogenic/Likely pathogenic
Select item 805839	NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter)	TJP2 (R1001* +4 more)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic