ClinVar (all) for Orgtrack (Select 507193) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498081	NM_020751.3(COG6):c.153+392A>G	COG6	Single nucleotide variant (intron variant)	COG6-ongenital disorder of glycosylation	GPathogenic
Select item 2498080	NM_020751.3(COG6):c.1672C>T (p.Gln558Ter)	COG6 (Q558*)	Single nucleotide variant (nonsense +1 more)	COG6-ongenital disorder of glycosylation	GPathogenic
Select item 1710295	t(4;20)(q22.1;p12.2)	FAM13A, JAG1	Translocation	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1195886	NM_001374385.1(ATP8B1):c.698+564_941-154dup	ATP8B1, LOC126862761	Duplication (splice acceptor variant +1 more)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 1195885	NC_000018.9:g.55335906_55346620dup	ATP8B1	Duplication	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 1195884	NM_001374385.1(ATP8B1):c.-25-4014_181+2209del	ATP8B1	Deletion (splice acceptor variant +2 more)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 1164071	NM_001374385.1(ATP8B1):c.1029G>A (p.Thr343=)	ATP8B1, LOC126862761	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GPathogenic/Likely pathogenic
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 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 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 805842	NM_004817.4(TJP2):c.115-1G>A	TJP2	Single nucleotide variant (splice acceptor variant)	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 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 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
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 805837	NM_004817.4(TJP2):c.1672-1G>A	TJP2	Single nucleotide variant (splice acceptor variant)	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 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 694481	NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)	USP53 (R469* +4 more)	Single nucleotide variant (nonsense)	Cholestasis +1 more	GPathogenic
Select item 694480	NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)	USP53 (R425* +4 more)	Single nucleotide variant (nonsense)	Cholestasis	GPathogenic
Select item 694479	NM_001371395.1(USP53):c.878G>T (p.Gly293Val)	USP53 (G293V +1 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis	GLikely pathogenic
Select item 694478	NM_001371395.1(USP53):c.834_835dup (p.Val279fs)	USP53 (V279fs)	Microsatellite (frameshift variant)	Cholestasis	GPathogenic
Select item 694477	NM_001371395.1(USP53):c.583del (p.Arg195fs)	USP53 (R195fs +1 more)	Deletion (frameshift variant)	Cholestasis	GPathogenic
Select item 694476	NM_001371395.1(USP53):c.569+2T>C	USP53	Single nucleotide variant (splice donor variant)	Cholestasis	GPathogenic
Select item 694475	NM_001371395.1(USP53):c.395A>G (p.His132Arg)	USP53 (H132R +1 more)	Single nucleotide variant (missense variant)	Cholestasis	GLikely pathogenic
Select item 694474	NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)	USP53 (R99S)	Single nucleotide variant (missense variant +1 more)	Cholestasis	GPathogenic
Select item 694473	NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)	USP53 (R57*)	Single nucleotide variant (nonsense +1 more)	Cholestasis	GPathogenic
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 694273	NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	USP53 (R338* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	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

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Items: 30