ClinVar for MedGen (Select 1645830) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341319	NM_001374385.1(ATP8B1):c.1955G>C (p.Arg652Thr)	ATP8B1 (R602T +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 3242049	NM_001374385.1(ATP8B1):c.1057G>T (p.Ala353Ser)	ATP8B1 (A303S +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 2687833	NM_001374385.1(ATP8B1):c.3722del (p.Gly1241fs)	ATP8B1-AS1, ATP8B1 (G1191fs +1 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 2687832	NM_001374385.1(ATP8B1):c.2614dup (p.Gln872fs)	ATP8B1, ATP8B1-AS1 (Q822fs +1 more)	Duplication (frameshift variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 2687831	NM_001374385.1(ATP8B1):c.2742_2743delinsT (p.Glu914fs)	ATP8B1, ATP8B1-AS1 (E864fs +1 more)	Indel (frameshift variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 2687830	NM_001374385.1(ATP8B1):c.696_697inv (p.Gly233Arg)	ATP8B1 (G183R +1 more)	Inversion (missense variant)	Progressive familial intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2687798	NM_001374385.1(ATP8B1):c.555-1G>C	ATP8B1	Single nucleotide variant (splice acceptor variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 2627551	NM_001374385.1(ATP8B1):c.2500_2588del (p.Met834fs)	ATP8B1, ATP8B1-AS1 (M784fs +1 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 2627550	NM_001374385.1(ATP8B1):c.2609C>G (p.Pro870Arg)	ATP8B1, ATP8B1-AS1 (P820R +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GLikely pathogenic
Select item 2584925	NM_001374385.1(ATP8B1):c.1426T>A (p.Tyr476Asn)	ATP8B1 (Y426N +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 2439403	NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)	ATP8B1 (R550W +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2439402	NM_001374385.1(ATP8B1):c.2053G>A (p.Glu685Lys)	ATP8B1 (E635K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1698811	NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter)	ATP8B1 (R475* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1698723	NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)	ATP8B1, ATP8B1-AS1 (R891* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +2 more	GPathogenic
Select item 1691294	NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met)	ATP8B1, ATP8B1-AS1 (T838M +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +2 more	GUncertain significance
Select item 1687217	NM_001374385.1(ATP8B1):c.213dup (p.Lys72fs)	ATP8B1 (K72fs)	Duplication (frameshift variant +1 more)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 1301852	NM_001374385.1(ATP8B1):c.627+5G>T	ATP8B1	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 1	Gnot provided
Select item 1301678	NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)	ATP8B1, ATP8B1-AS1 (R1014* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	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 1192348	NM_001374385.1(ATP8B1):c.1430-126_1430-124del	ATP8B1	Microsatellite (intron variant)	Cholestasis, intrahepatic, of pregnancy, 1 +2 more	GBenign
Select item 1192347	NM_001374385.1(ATP8B1):c.1430-89C>T	ATP8B1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192346	NM_001374385.1(ATP8B1):c.1932+44C>T	ATP8B1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192345	NM_001374385.1(ATP8B1):c.3454G>A (p.Ala1152Thr)	ATP8B1-AS1, ATP8B1 (A1102T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1180889	NM_001374385.1(ATP8B1):c.699-52C>T	ATP8B1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 1028920	NM_001374385.1(ATP8B1):c.3473T>C (p.Leu1158Pro)	ATP8B1, ATP8B1-AS1 (L1108P +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	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 892429	NM_001374385.1(ATP8B1):c.14G>A (p.Arg5Lys)	ATP8B1 (R5K)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892387	NM_001374385.1(ATP8B1):c.1101C>A (p.Gly367=)	ATP8B1	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 892386	NM_001374385.1(ATP8B1):c.1156T>G (p.Phe386Val)	ATP8B1 (F336V +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892385	NM_001374385.1(ATP8B1):c.1193C>T (p.Thr398Ile)	ATP8B1 (T348I +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892384	NM_001374385.1(ATP8B1):c.1206C>T (p.Ile402=)	ATP8B1	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 892383	NM_001374385.1(ATP8B1):c.1278C>T (p.Tyr426=)	ATP8B1	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892268	NM_001374385.1(ATP8B1):c.*467G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892267	NM_001374385.1(ATP8B1):c.*506G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892213	NM_001374385.1(ATP8B1):c.*1546A>C	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892212	NM_001374385.1(ATP8B1):c.*1629T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892211	NM_001374385.1(ATP8B1):c.*1676G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 892210	NM_001374385.1(ATP8B1):c.*1796G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891237	NM_001374385.1(ATP8B1):c.164G>A (p.Arg55Gln)	ATP8B1 (G38R +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891236	NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=)	ATP8B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891131	NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=)	ATP8B1-AS1, ATP8B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891130	NM_001374385.1(ATP8B1):c.3401-13A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891047	NM_001374385.1(ATP8B1):c.*649C>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891046	NM_001374385.1(ATP8B1):c.*676G>A	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891045	NM_001374385.1(ATP8B1):c.*727A>C	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891044	NM_001374385.1(ATP8B1):c.*734A>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 891043	NM_001374385.1(ATP8B1):c.*735T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890983	NM_001374385.1(ATP8B1):c.*1833G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890982	NM_001374385.1(ATP8B1):c.*1851G>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890981	NM_001374385.1(ATP8B1):c.*1945C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890631	NM_001374385.1(ATP8B1):c.1819+10C>T	ATP8B1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890630	NM_001374385.1(ATP8B1):c.1933-12T>A	ATP8B1	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890629	NM_001374385.1(ATP8B1):c.2208G>A (p.Lys736=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890565	NM_001374385.1(ATP8B1):c.3669C>T (p.Ser1223=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 890564	NM_001374385.1(ATP8B1):c.3673C>A (p.Arg1225Ser)	ATP8B1, ATP8B1-AS1 (R1175S +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890489	NM_001374385.1(ATP8B1):c.*741A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890488	NM_001374385.1(ATP8B1):c.*799G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890487	NM_001374385.1(ATP8B1):c.*899C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 890486	NM_001374385.1(ATP8B1):c.*900G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GLikely benign
Select item 889676	NM_001374385.1(ATP8B1):c.310G>A (p.Ala104Thr)	ATP8B1 (A104T +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 889675	NM_001374385.1(ATP8B1):c.501T>A (p.His167Gln)	ATP8B1 (H167Q +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888988	NM_001374385.1(ATP8B1):c.676G>A (p.Val226Met)	ATP8B1 (V176M +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888987	NM_001374385.1(ATP8B1):c.854G>T (p.Ser285Ile)	ATP8B1 (S285I +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888986	NM_001374385.1(ATP8B1):c.910G>A (p.Asp304Asn)	ATP8B1 (D304N +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888932	NM_001374385.1(ATP8B1):c.2322T>A (p.Asn774Lys)	ATP8B1, ATP8B1-AS1 (N724K +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888931	NM_001374385.1(ATP8B1):c.2763G>A (p.Ser921=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888868	NM_001374385.1(ATP8B1):c.*242T>C	ATP8B1-AS1, ATP8B1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888867	NM_001374385.1(ATP8B1):c.*261G>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888866	NM_001374385.1(ATP8B1):c.*292C>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888865	NM_001374385.1(ATP8B1):c.*296C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888864	NM_001374385.1(ATP8B1):c.*340C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888781	NM_001374385.1(ATP8B1):c.*1133A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888780	NM_001374385.1(ATP8B1):c.*1243T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888779	NM_001374385.1(ATP8B1):c.*1333T>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 888778	NM_001374385.1(ATP8B1):c.*1403G>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 871594	NM_001374385.1(ATP8B1):c.2600G>A (p.Arg867His)	ATP8B1, ATP8B1-AS1 (R817H +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 804427	NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter)	ATP8B1, ATP8B1-AS1 (E701* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +1 more	GLikely pathogenic
Select item 803504	NM_001374385.1(ATP8B1):c.173del (p.Phe58fs)	ATP8B1 (S41fs +1 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 1	GLikely pathogenic
Select item 803503	NM_001374385.1(ATP8B1):c.3015+1G>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis type 1	GLikely pathogenic
Select item 803502	NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val)	ATP8B1-AS1, ATP8B1 (F1132V +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GLikely pathogenic
Select item 802331	NM_000443.4(ABCB4):c.344+4A>G	ABCB4	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 802330	NM_000443.4(ABCB4):c.1119+5G>A	ABCB4	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 1	GLikely pathogenic
Select item 802329	NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)	ABCB4 (L441R)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1	GLikely pathogenic
Select item 802328	NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)	ABCB4 (Q572*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 802327	NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)	ABCB4 (R582Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 802326	NM_000443.4(ABCB4):c.2784-12T>C	ABCB4	Single nucleotide variant (intron variant)	ABCB4-Related Intrahepatic Cholestasis +3 more	GConflicting classifications of pathogenicity
Select item 694736	NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn)	ATP8B1-AS1, ATP8B1 (I761N +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GUncertain significance
Select item 631806	NM_001374385.1(ATP8B1):c.1473+2T>C	ATP8B1	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 631805	NM_001374385.1(ATP8B1):c.2098-7_2098delinsTTTTTAGT	ATP8B1, ATP8B1-AS1	Indel (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis type 1	GUncertain significance
Select item 631804	NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer)	ATP8B1, ATP8B1-AS1	Deletion (nonsense)	Progressive familial intrahepatic cholestasis type 1 +2 more	GPathogenic
Select item 596680	NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)	ABCB4 (R159*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +2 more	GPathogenic
Select item 595620	NM_001374385.1(ATP8B1):c.2261C>T (p.Thr754Ile)	ATP8B1-AS1, ATP8B1 (T754I +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GUncertain significance
Select item 595604	NM_001374385.1(ATP8B1):c.3727G>A (p.Ala1243Thr)	ATP8B1, ATP8B1-AS1 (A1243T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595241	NM_000443.4(ABCB4):c.1553del (p.Leu518fs)	ABCB4 (L518fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 595193	NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)	ATP8B1, ATP8B1-AS1 (R952* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 594504	NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)	ABCB4 (I1249fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 594496	NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile)	ATP8B1, ATP8B1-AS1 (V908I +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +3 more	GConflicting classifications of pathogenicity

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