ClinVar for MedGen (Select 75668) - ClinVar

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

Links from MedGen

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251916	NM_001374385.1(ATP8B1):c.1030A>T (p.Ile344Phe)	ATP8B1 (I294F +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis	GLikely pathogenic
Select item 3233775	NM_003742.4(ABCB11):c.1568C>G (p.Ala523Gly)	ABCB11 (A523G)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome, type A2, autosomal dominant +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)	Progressive familial intrahepatic cholestasis +1 more	GPathogenic/Likely pathogenic
Select item 2504019	NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs)	ATP8B1 (L354fs +1 more)	Microsatellite (frameshift variant)	Benign recurrent intrahepatic cholestasis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 2504002	NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)	ABCB11 (R1268Q)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2445739	NM_000443.4(ABCB4):c.762del (p.Val255fs)	ABCB4 (V255fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis	GLikely pathogenic
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 1878254	NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)	ATP8B1 (G258S +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1804771	NC_000018.9:g.(?_55313657)_(55321308_55322425)del	ATP8B1	Deletion	Progressive familial intrahepatic cholestasis	GLikely pathogenic
Select item 1803125	NM_003742.4(ABCB11):c.99-2A>G	ABCB11	Single nucleotide variant (splice acceptor variant)	Progressive familial intrahepatic cholestasis	GPathogenic
Select item 1803119	NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile)	ABCB11 (T1269I)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis	GUncertain significance
Select item 1722389	NM_003742.4(ABCB11):c.1975C>T (p.Gln659Ter)	ABCB11 (Q659*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis	GLikely pathogenic
Select item 1698460	NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)	ABCB4 (G270R)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +2 more	GConflicting classifications of pathogenicity
Select item 1696273	NC_000018.9:g.(55373820_55398858)_(55399062_55470229)del	ATP8B1	Deletion	Progressive familial intrahepatic cholestasis	GLikely pathogenic
Select item 1456442	NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)	ABCB11 (I320fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis +2 more	GPathogenic/Likely pathogenic
Select item 1446335	NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)	ABCB11 (A167T)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +3 more	GPathogenic/Likely pathogenic
Select item 1446326	NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	ABCB11 (S226L)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1301358	NM_001374385.1(ATP8B1):c.2007G>A (p.Trp669Ter)	ATP8B1 (W619* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis	GLikely pathogenic
Select item 1192197	NM_001374385.1(ATP8B1):c.3261+1G>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis	GLikely pathogenic
Select item 956883	NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)	ABCB11 (R470Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 951369	NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	ABCB11 (I498T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 812748	NM_003742.4(ABCB11):c.2075+2T>C	ABCB11	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis	GLikely pathogenic
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 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 598701	NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)	ABCB11 (R517H)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 598092	NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)	ABCB11, LOC126806400 (R948C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 595385	NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)	ABCB11 (S699P)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 594531	NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)	ABCB11 (A588V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 501724	NM_000443.4(ABCB4):c.3486+1G>A	ABCB4	Single nucleotide variant (splice donor variant)	ABCB4-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 501603	NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)	ABCB11 (R832C)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 499070	NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)	ABCB11 (R832H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 372802	NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)	ABCB4 (R176W)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GPathogenic/Likely pathogenic
Select item 332032	NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile)	ABCB11 (V567I)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +1 more	GConflicting classifications of pathogenicity
Select item 332024	NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)	ABCB11, LOC126806400 (S945N)	Single nucleotide variant (missense variant)	ABCB11-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 332019	NM_003742.4(ABCB11):c.*193G>C	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis	GUncertain significance
Select item 327482	NM_001374385.1(ATP8B1):c.2052C>T (p.Asp684=)	ATP8B1	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis +1 more	GConflicting classifications of pathogenicity
Select item 327481	NM_001374385.1(ATP8B1):c.2098-21_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign/Likely benign
Select item 327480	NM_001374385.1(ATP8B1):c.2098-20_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign
Select item 327479	NM_001374385.1(ATP8B1):c.2098-19_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign/Likely benign
Select item 327478	NM_001374385.1(ATP8B1):c.2098-18_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign
Select item 327477	NM_001374385.1(ATP8B1):c.2098-17_2098-15dup	ATP8B1, ATP8B1-AS1	Duplication (non-coding transcript variant +1 more)	Progressive familial intrahepatic cholestasis +1 more	GBenign/Likely benign
Select item 327475	NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=)	ATP8B1-AS1, ATP8B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 327469	NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis +1 more	GConflicting classifications of pathogenicity
Select item 327438	NM_001374385.1(ATP8B1):c.*2015del	ATP8B1, ATP8B1-AS1	Deletion (3 prime UTR variant)	Progressive familial intrahepatic cholestasis	GBenign
Select item 291252	NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	ABCB4 (N510S)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +6 more	GConflicting classifications of pathogenicity
Select item 290133	NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)	ABCB11 (G766R)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +4 more	GPathogenic
Select item 290081	NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	ABCB11 (R487H)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 284637	NM_003742.4(ABCB11):c.2012-8T>G	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis +4 more	GPathogenic/Likely pathogenic
Select item 219164	NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter)	NR1H4 (R176* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 219163	NG_029843.1:g.23704_55438del	NR1H4	Deletion	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 219162	NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys)	NR1H4	Insertion (inframe_insertion +1 more)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 197144	NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)	ABCB4 (R47Q)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +4 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)	Inborn genetic diseases +3 more	GPathogenic
Select item 92901	NM_000404.4(GLB1):c.1769G>A (p.Arg590His)	GLB1 (R590H +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +6 more	GPathogenic/Likely pathogenic
Select item 13690	NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	ABCB4 (S320F)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 7271	NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)	ATP8B1 (D70N)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 7267	NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)	ATP8B1 (I661T +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +4 more	GPathogenic/Likely pathogenic
Select item 6590	NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)	ABCB11 (E297G)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +4 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 59