ClinVar for MedGen (Select 1637492) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679866	NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)	ATP8B1 (T196fs +1 more)	Duplication (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679865	NM_001374385.1(ATP8B1):c.1429+1G>T	ATP8B1	Single nucleotide variant (splice donor variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679864	NM_001374385.1(ATP8B1):c.1781T>A (p.Leu594Ter)	ATP8B1 (L544* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679862	NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)	ATP8B1 (T208fs +1 more)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679861	NM_001374385.1(ATP8B1):c.1081del (p.Tyr361fs)	ATP8B1 (Y311fs +1 more)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679860	NM_001374385.1(ATP8B1):c.1246_1247del (p.His417fs)	ATP8B1 (H367fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679859	NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)	ATP8B1, ATP8B1-AS1 (Y930* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679858	NM_001374385.1(ATP8B1):c.2418+5G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679857	NM_001374385.1(ATP8B1):c.423G>A (p.Trp141Ter)	ATP8B1 (W141* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679856	NM_001374385.1(ATP8B1):c.3400+2T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (splice donor variant)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GPathogenic
Select item 2679855	NM_001374385.1(ATP8B1):c.3490C>T (p.Arg1164Ter)	ATP8B1, ATP8B1-AS1 (R1114* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1	GPathogenic
Select item 2679854	NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)	ATP8B1 (R221* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GPathogenic
Select item 2679853	NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)	ATP8B1 (Y355fs +1 more)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GPathogenic
Select item 2679852	NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)	ATP8B1 (N598fs +1 more)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679851	NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)	ATP8B1, ATP8B1-AS1 (V888fs +1 more)	Duplication (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679850	NM_001374385.1(ATP8B1):c.1932+1G>A	ATP8B1	Single nucleotide variant (splice donor variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679849	NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)	ATP8B1 (I644N +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GPathogenic
Select item 2679848	NM_001374385.1(ATP8B1):c.1884del (p.Leu629fs)	ATP8B1 (L579fs +1 more)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679847	NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)	ATP8B1 (I261fs +1 more)	Duplication (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679846	NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)	ATP8B1, ATP8B1-AS1 (E931K +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1	GPathogenic
Select item 2679845	NM_001374385.1(ATP8B1):c.699-2A>G	ATP8B1	Single nucleotide variant (splice acceptor variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679844	NM_001374385.1(ATP8B1):c.3531+1G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (splice donor variant)	Benign recurrent intrahepatic cholestasis type 1	GPathogenic
Select item 2679843	NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)	ATP8B1, ATP8B1-AS1 (S1044L +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2679842	NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)	ATP8B1, ATP8B1-AS1 (F909fs +1 more)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2679841	NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)	ATP8B1, ATP8B1-AS1 (V947M +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GLikely pathogenic
Select item 2679840	NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)	ATP8B1, ATP8B1-AS1 (F803S +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2664909	NM_001374385.1(ATP8B1):c.1553C>G (p.Ser518Ter)	ATP8B1 (S468* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2504019	NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs)	ATP8B1 (L354fs +1 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2501792	NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)	ATP8B1, ATP8B1-AS1 (A672P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Benign recurrent intrahepatic cholestasis type 1	GUncertain significance
Select item 2498172	NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)	ATP8B1, ATP8B1-AS1 (R884G +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2439403	NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)	ATP8B1 (R550W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1878254	NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)	ATP8B1 (G258S +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +1 more	GPathogenic/Likely pathogenic
Select item 1698723	NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)	ATP8B1, ATP8B1-AS1 (R891* +1 more)	Single nucleotide variant (nonsense)	ATP8B1-related condition +3 more	GPathogenic
Select item 1691294	NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met)	ATP8B1-AS1, ATP8B1 (T838M +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GUncertain significance
Select item 1687187	NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)	ATP8B1 (R581* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1	GPathogenic/Likely pathogenic
Select item 1301678	NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)	ATP8B1, ATP8B1-AS1 (R1014* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GPathogenic
Select item 1028919	NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser)	ATP8B1 (N442S +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related condition +1 more	GUncertain significance
Select item 973551	NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs)	ATP8B1 (G197fs +1 more)	Indel (frameshift variant)	Familial intrahepatic cholestasis type 1 +2 more	GPathogenic
Select item 918158	NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del)	ATP8B1 (F479del +1 more)	Microsatellite (inframe_deletion)	Benign recurrent intrahepatic cholestasis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 631804	NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer)	ATP8B1, ATP8B1-AS1	Deletion (nonsense)	Progressive familial intrahepatic cholestasis +2 more	GConflicting classifications of pathogenicity
Select item 595577	NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr)	ATP8B1, ATP8B1-AS1 (F1165Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 502324	NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)	ATP8B1 (R600Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 498425	NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val)	ATP8B1 (I661V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 383902	NM_001374385.1(ATP8B1):c.3016-19A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 1 +4 more	GBenign/Likely benign
Select item 383293	NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)	ATP8B1-AS1, ATP8B1 (R849Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 327474	NM_001374385.1(ATP8B1):c.2931+14G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 1 +4 more	GBenign/Likely benign
Select item 290971	NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr)	ATP8B1 (N45T +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +4 more	GLikely benign
Select item 290904	NM_001374385.1(ATP8B1):c.2286-2A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (splice acceptor variant)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 289530	NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=)	ATP8B1	Single nucleotide variant (synonymous variant +1 more)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GPathogenic
Select item 198532	NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)	ATP8B1 (K203E +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 126382	NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)	ATP8B1 (E665* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis +3 more	GPathogenic
Select item 7274	NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)	ATP8B1 (R602* +1 more)	Single nucleotide variant (nonsense)	Familial intrahepatic cholestasis type 1 +3 more	GPathogenic
Select item 7271	NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)	ATP8B1 (D70N)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 7270	NM_001374385.1(ATP8B1):c.2932-3C>A	ATP8B1-AS1, ATP8B1	Single nucleotide variant (intron variant)	Benign recurrent intrahepatic cholestasis type 1	GPathogenic
Select item 7268	NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del)	ATP8B1, ATP8B1-AS1	Deletion (inframe_deletion)	Benign recurrent intrahepatic cholestasis type 1	GPathogenic
Select item 7267	NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)	ATP8B1 (I661T +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related condition +4 more	GPathogenic/Likely pathogenic
Select item 7265	NM_001374385.1(ATP8B1):c.2097+2T>C	ATP8B1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 7263	NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)	ATP8B1, ATP8B1-AS1 (G892R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 58