ClinVar for MedGen (Select 483742) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24442241.	NM_003742.4(ABCB11):c.1434+5G>A GRCh37: Chr2:169830220 GRCh38: Chr2:168973710	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 17066072.	NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn) GRCh37: Chr2:169780286 GRCh38: Chr2:168923776	ABCB11	I1271N	Progressive familial intrahepatic cholestasis type 2	Likely pathogenic	no assertion criteria provided
Select item 17066063.	NM_003742.4(ABCB11):c.151-9T>G GRCh37: Chr2:169870029 GRCh38: Chr2:169013519	ABCB11		Progressive familial intrahepatic cholestasis type 2	Likely pathogenic	no assertion criteria provided
Select item 17066054.	NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys) GRCh37: Chr2:169781270 GRCh38: Chr2:168924760	ABCB11	R1221K	Progressive familial intrahepatic cholestasis type 2	Pathogenic	no assertion criteria provided
Select item 17066045.	NM_003742.4(ABCB11):c.2075+3A>G GRCh37: Chr2:169824934 GRCh38: Chr2:168968424	ABCB11		Progressive familial intrahepatic cholestasis type 2	Pathogenic	no assertion criteria provided
Select item 17056566.	NM_003742.4(ABCB11):c.2629G>C (p.Gly877Arg) GRCh37: Chr2:169792925 GRCh38: Chr2:168936415	ABCB11, LOC126806400	G877R	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 17053497.	NM_003742.4(ABCB11):c.76+4A>G GRCh37: Chr2:169874556 GRCh38: Chr2:169018046	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 17032558.	NM_003742.4(ABCB11):c.617_619del (p.Ile206del) GRCh37: Chr2:169850385-169850387 GRCh38: Chr2:168993875-168993877	ABCB11		Progressive familial intrahepatic cholestasis type 2	Likely pathogenic (Aug 30, 2022)	no assertion criteria provided
Select item 17006249.	NM_003742.4(ABCB11):c.2448G>A (p.Gln816=) GRCh37: Chr2:169801367 GRCh38: Chr2:168944857	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance	no assertion criteria provided
Select item 168751610.	NM_003742.4(ABCB11):c.713G>A (p.Gly238Asp) GRCh37: Chr2:169850291 GRCh38: Chr2:168993781	ABCB11	G238D	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168746311.	NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter) GRCh37: Chr2:169787186 GRCh38: Chr2:168930676	ABCB11	Q1134*	Progressive familial intrahepatic cholestasis type 2	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168522812.	NM_003742.4(ABCB11):c.2076-1G>A GRCh37: Chr2:169820819 GRCh38: Chr2:168964309	ABCB11		Progressive familial intrahepatic cholestasis type 2	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168522713.	NM_003742.4(ABCB11):c.2179-1G>A GRCh37: Chr2:169814639 GRCh38: Chr2:168958129	ABCB11		Progressive familial intrahepatic cholestasis type 2	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 152623414.	NM_003742.4(ABCB11):c.611+1G>A GRCh37: Chr2:169851858 GRCh38: Chr2:168995348	ABCB11		not provided, Progressive familial intrahepatic cholestasis type 2	Pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152623215.	NM_003742.4(ABCB11):c.2451del (p.Tyr818fs) GRCh37: Chr2:169801274 GRCh38: Chr2:168944764	ABCB11	Y818fs	Progressive familial intrahepatic cholestasis type 2	Pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 152609016.	NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter) GRCh37: Chr2:169830254 GRCh38: Chr2:168973744	ABCB11	Q469*	Progressive familial intrahepatic cholestasis type 2	Pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 145829617.	NM_003742.4(ABCB11):c.3174del (p.Gln1058fs) GRCh37: Chr2:169788926 GRCh38: Chr2:168932416	ABCB11	Q1058fs	Progressive familial intrahepatic cholestasis type 2, not provided	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144632618.	NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) GRCh37: Chr2:169850327 GRCh38: Chr2:168993817	ABCB11	S226L	Progressive familial intrahepatic cholestasis type 2, not provided	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 144631919.	NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter) GRCh37: Chr2:169833152 GRCh38: Chr2:168976642	ABCB11	R415*	Progressive familial intrahepatic cholestasis type 2, not provided	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 138368820.	NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys) GRCh37: Chr2:169830244 GRCh38: Chr2:168973734	ABCB11	Y472C	not provided	Pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 133915921.	NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) GRCh37: Chr2:169781204 GRCh38: Chr2:168924694	ABCB11	D1243G	Progressive familial intrahepatic cholestasis type 2	Uncertain significance	criteria provided, single submitter
Select item 133902222.	NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu) GRCh37: Chr2:169783709 GRCh38: Chr2:168927199	ABCB11	A1192E	Progressive familial intrahepatic cholestasis type 2	Uncertain significance	criteria provided, single submitter
Select item 130165423.	NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met) GRCh37: Chr2:169781245 GRCh38: Chr2:168924735	ABCB11	I1229M	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Dec 26, 2019)	criteria provided, single submitter
Select item 119588924.	NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys) GRCh37: Chr2:169874575 GRCh38: Chr2:169018065	ABCB11	E21K	not provided, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 118471225.	NM_003742.4(ABCB11):c.3766-34A>G GRCh37: Chr2:169780366 GRCh38: Chr2:168923856	ABCB11		not provided, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118466226.	NM_003742.4(ABCB11):c.908+108A>G GRCh37: Chr2:169847203 GRCh38: Chr2:168990693	ABCB11		not provided, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118464927.	NM_003742.4(ABCB11):c.1309-93G>A GRCh37: Chr2:169830443 GRCh38: Chr2:168973933	ABCB11		Benign recurrent intrahepatic cholestasis type 2, not provided, Progressive familial intrahepatic cholestasis type 2	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118464828.	NM_003742.4(ABCB11):c.1434+70C>T GRCh37: Chr2:169830155 GRCh38: Chr2:168973645	ABCB11		Progressive familial intrahepatic cholestasis type 2, not provided, Benign recurrent intrahepatic cholestasis type 2	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118464729.	NM_003742.4(ABCB11):c.1638+32T>C GRCh37: Chr2:169828325 GRCh38: Chr2:168971815	ABCB11		Progressive familial intrahepatic cholestasis type 2, not provided, Benign recurrent intrahepatic cholestasis type 2	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118464630.	NM_003742.4(ABCB11):c.2344-157T>G GRCh37: Chr2:169801628 GRCh38: Chr2:168945118	ABCB11		Progressive familial intrahepatic cholestasis type 2, not provided, Benign recurrent intrahepatic cholestasis type 2	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118206931.	NM_003742.4(ABCB11):c.1638+80C>T GRCh37: Chr2:169828277 GRCh38: Chr2:168971767	ABCB11		Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 113149532.	NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn) GRCh37: Chr2:169780136 GRCh38: Chr2:168923626	ABCB11	S1321N	not provided, Progressive familial intrahepatic cholestasis type 2	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 109934533.	NM_003742.4(ABCB11):c.282C>T (p.Asp94=) GRCh37: Chr2:169869889 GRCh38: Chr2:169013379	ABCB11		not provided	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 108879834.	NM_003742.4(ABCB11):c.2713T>C (p.Leu905=) GRCh37: Chr2:169792841 GRCh38: Chr2:168936331	ABCB11, LOC126806400		not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 107679135.	NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His) GRCh37: Chr2:169783826 GRCh38: Chr2:168927316	ABCB11	R1153H	not provided	Pathogenic/Likely pathogenic (Sep 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107088736.	NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro) GRCh37: Chr2:169828535 GRCh38: Chr2:168972025	ABCB11	R487P	not provided	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 107020137.	NM_003742.4(ABCB11):c.2319dup (p.Phe774fs) GRCh37: Chr2:169814497-169814498 GRCh38: Chr2:168957987-168957988	ABCB11	F774fs	not provided, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2	Pathogenic/Likely pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99123838.	NM_003742.4(ABCB11):c.394C>T (p.Leu132=) GRCh37: Chr2:169853228 GRCh38: Chr2:168996718	ABCB11		not provided	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 99123739.	NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg) GRCh37: Chr2:169842786 GRCh38: Chr2:168986276	ABCB11	K306R	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Sep 4, 2020)	no assertion criteria provided
Select item 99123640.	NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser) GRCh37: Chr2:169842673 GRCh38: Chr2:168986163	ABCB11	G344S	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99123541.	NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) GRCh37: Chr2:169836478 GRCh38: Chr2:168979968	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99123442.	NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr) GRCh37: Chr2:169833124 GRCh38: Chr2:168976614	ABCB11	N424T	Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 99123343.	NM_003742.4(ABCB11):c.1639-6A>G GRCh37: Chr2:169826731 GRCh38: Chr2:168970221	ABCB11		not provided	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 99058444.	NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val) GRCh37: Chr2:169783731 GRCh38: Chr2:168927221	ABCB11	M1185V	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99058345.	NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala) GRCh37: Chr2:169780152 GRCh38: Chr2:168923642	ABCB11	T1316A	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 95688346.	NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) GRCh37: Chr2:169830250 GRCh38: Chr2:168973740	ABCB11	R470Q	not provided	Pathogenic (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95136947.	NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) GRCh37: Chr2:169828502 GRCh38: Chr2:168971992	ABCB11	I498T	not provided, Progressive familial intrahepatic cholestasis	Pathogenic/Likely pathogenic (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94396748.	NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) GRCh37: Chr2:169781304 GRCh38: Chr2:168924794	ABCB11	T1210P	not provided	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 89454549.	NM_003742.4(ABCB11):c.583G>T (p.Val195Leu) GRCh37: Chr2:169851887 GRCh38: Chr2:168995377	ABCB11	V195L	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 89454450.	NM_003742.4(ABCB11):c.585G>A (p.Val195=) GRCh37: Chr2:169851885 GRCh38: Chr2:168995375	ABCB11		not provided, Progressive familial intrahepatic cholestasis type 2	Conflicting interpretations of pathogenicity (Sep 10, 2020)	criteria provided, conflicting interpretations
Select item 89454351.	NM_003742.4(ABCB11):c.681C>A (p.Thr227=) GRCh37: Chr2:169850323 GRCh38: Chr2:168993813	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89450552.	NM_003742.4(ABCB11):c.1647C>T (p.Asp549=) GRCh37: Chr2:169826717 GRCh38: Chr2:168970207	ABCB11		not provided, Progressive familial intrahepatic cholestasis type 2	Conflicting interpretations of pathogenicity (Mar 2, 2022)	criteria provided, conflicting interpretations
Select item 89450453.	NM_003742.4(ABCB11):c.1927T>C (p.Leu643=) GRCh37: Chr2:169825944 GRCh38: Chr2:168969434	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89446754.	NM_003742.4(ABCB11):c.3454C>T (p.Leu1152Phe) GRCh37: Chr2:169783830 GRCh38: Chr2:168927320	ABCB11	L1152F	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89442955.	NM_003742.4(ABCB11):c.*670G>C GRCh37: Chr2:169779462 GRCh38: Chr2:168922952	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89411056.	NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp) GRCh37: Chr2:169814615 GRCh38: Chr2:168958105	ABCB11	E734D	not provided, Progressive familial intrahepatic cholestasis type 2	Conflicting interpretations of pathogenicity (Sep 17, 2022)	criteria provided, conflicting interpretations
Select item 89410957.	NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr) GRCh37: Chr2:169814589 GRCh38: Chr2:168958079	ABCB11	R743T	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89407258.	NM_003742.4(ABCB11):c.3499G>T (p.Ala1167Ser) GRCh37: Chr2:169783785 GRCh38: Chr2:168927275	ABCB11	A1167S	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89407159.	NM_003742.4(ABCB11):c.3500C>T (p.Ala1167Val) GRCh37: Chr2:169783784 GRCh38: Chr2:168927274	ABCB11	A1167V	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89407060.	NM_003742.4(ABCB11):c.3546A>C (p.Glu1182Asp) GRCh37: Chr2:169783738 GRCh38: Chr2:168927228	ABCB11	E1182D	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89406961.	NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=) GRCh37: Chr2:169783693 GRCh38: Chr2:168927183	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 89333062.	NM_003742.4(ABCB11):c.-97T>C GRCh37: Chr2:169887804 GRCh38: Chr2:169031294	ABCB11		Progressive familial intrahepatic cholestasis type 2	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 89332963.	NM_003742.4(ABCB11):c.-64A>G GRCh37: Chr2:169887771 GRCh38: Chr2:169031261	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89329064.	NM_003742.4(ABCB11):c.1197+13C>T GRCh37: Chr2:169836363 GRCh38: Chr2:168979853	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89325465.	NM_003742.4(ABCB11):c.2413A>G (p.Met805Val) GRCh37: Chr2:169801402 GRCh38: Chr2:168944892	ABCB11	M805V	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89322266.	NM_003742.4(ABCB11):c.*26A>G GRCh37: Chr2:169780106 GRCh38: Chr2:168923596	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89322167.	NM_003742.4(ABCB11):c.*316G>A GRCh37: Chr2:169779816 GRCh38: Chr2:168923306	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89311768.	NM_003742.4(ABCB11):c.-57C>T GRCh37: Chr2:169887764 GRCh38: Chr2:169031254	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89311669.	NM_003742.4(ABCB11):c.119G>A (p.Gly40Asp) GRCh37: Chr2:169870844 GRCh38: Chr2:169014334	ABCB11	G40D	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89311570.	NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu) GRCh37: Chr2:169869963 GRCh38: Chr2:169013453	ABCB11	F70L	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89308271.	NM_003742.4(ABCB11):c.1434+14A>G GRCh37: Chr2:169830211 GRCh38: Chr2:168973701	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89308172.	NM_003742.4(ABCB11):c.1435-11A>G GRCh37: Chr2:169828571 GRCh38: Chr2:168972061	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89308073.	NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp) GRCh37: Chr2:169828527 GRCh38: Chr2:168972017	ABCB11	N490D	not specified, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89307974.	NM_003742.4(ABCB11):c.1553A>G (p.Tyr518Cys) GRCh37: Chr2:169828442 GRCh38: Chr2:168971932	ABCB11	Y518C	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89304075.	NM_003742.4(ABCB11):c.3057-12G>A GRCh37: Chr2:169789055 GRCh38: Chr2:168932545	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89299876.	NM_003742.4(ABCB11):c.*406A>G GRCh37: Chr2:169779726 GRCh38: Chr2:168923216	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89299777.	NM_003742.4(ABCB11):c.*640G>C GRCh37: Chr2:169779492 GRCh38: Chr2:168922982	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 83778078.	NM_003742.4(ABCB11):c.2343+1G>T GRCh37: Chr2:169814473 GRCh38: Chr2:168957963	ABCB11		not provided	Pathogenic/Likely pathogenic (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80438879.	NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter) GRCh37: Chr2:169836471-169836472 GRCh38: Chr2:168979961-168979962	ABCB11	V368*	Progressive familial intrahepatic cholestasis type 2	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 80182980.	NM_003742.4(ABCB11):c.257T>A (p.Met86Lys) GRCh37: Chr2:169869914 GRCh38: Chr2:169013404	ABCB11	M86K	Progressive familial intrahepatic cholestasis type 2	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 79851981.	NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys) GRCh37: Chr2:169825934 GRCh38: Chr2:168969424	ABCB11	R646K	not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 79842382.	NM_003742.4(ABCB11):c.1198-7A>C GRCh37: Chr2:169833204 GRCh38: Chr2:168976694	ABCB11		not provided	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 79539283.	NM_003742.4(ABCB11):c.1932G>A (p.Leu644=) GRCh37: Chr2:169825939 GRCh38: Chr2:168969429	ABCB11		not provided	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 79101884.	NM_003742.4(ABCB11):c.1470C>T (p.Asn490=) GRCh37: Chr2:169828525 GRCh38: Chr2:168972015	ABCB11		not provided	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 75664585.	NM_003742.4(ABCB11):c.2769A>G (p.Thr923=) GRCh37: Chr2:169792785 GRCh38: Chr2:168936275	ABCB11, LOC126806400		not provided	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 75336486.	NM_003742.4(ABCB11):c.1530C>A (p.Thr510=) GRCh37: Chr2:169828465 GRCh38: Chr2:168971955	ABCB11		not provided, Progressive familial intrahepatic cholestasis type 2	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 75293987.	NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=) GRCh37: Chr2:169781299 GRCh38: Chr2:168924789	ABCB11		Progressive familial intrahepatic cholestasis type 2, not provided	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 73467488.	NM_003742.4(ABCB11):c.1639-4C>T GRCh37: Chr2:169826729 GRCh38: Chr2:168970219	ABCB11		not provided	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 72631889.	NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln) GRCh37: Chr2:169788930 GRCh38: Chr2:168932420	ABCB11	R1057Q	not provided	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 72389090.	NM_003742.4(ABCB11):c.1533C>T (p.Thr511=) GRCh37: Chr2:169828462 GRCh38: Chr2:168971952	ABCB11		not provided	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 72257491.	NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=) GRCh37: Chr2:169780252 GRCh38: Chr2:168923742	ABCB11		not provided	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 63964092.	NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys) GRCh37: Chr2:169787204 GRCh38: Chr2:168930694	ABCB11	R1128C	not provided, Progressive familial intrahepatic cholestasis type 2	Pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63534593.	NM_003742.4(ABCB11):c.3352G>A (p.Gly1118Ser) GRCh37: Chr2:169787234 GRCh38: Chr2:168930724	ABCB11	G1118S	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (May 15, 2019)	criteria provided, single submitter
Select item 62582594.	GRCh37/hg19 2q31.1(chr2:169824976-169830328) GRCh37: Chr2:169824976-169830328	ABCB11		Progressive familial intrahepatic cholestasis type 2	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62328895.	NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter) GRCh37: Chr2:169830243 GRCh38: Chr2:168973733	ABCB11	Y472*	Progressive familial intrahepatic cholestasis type 2	Pathogenic (Dec 30, 2017)	criteria provided, single submitter
Select item 59809296.	NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys) GRCh37: Chr2:169791908 GRCh38: Chr2:168935398	ABCB11, LOC126806400	R948C	Progressive familial intrahepatic cholestasis, not provided, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59690597.	NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) GRCh37: Chr2:169826590 GRCh38: Chr2:168970080	ABCB11	E592Q	not provided, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59662098.	NM_003742.4(ABCB11):c.2178+1G>A GRCh37: Chr2:169820715 GRCh38: Chr2:168964205	ABCB11		Progressive familial intrahepatic cholestasis type 2, not provided, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2	Pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59659799.	NM_003742.4(ABCB11):c.77-16dup GRCh37: Chr2:169873316-169873317 GRCh38: Chr2:169016806-169016807	ABCB11		not provided, not specified, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 596528100.	NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln) GRCh37: Chr2:169833151 GRCh38: Chr2:168976641	ABCB11	R415Q	Progressive familial intrahepatic cholestasis type 2, not provided	Uncertain significance (Mar 16, 2018)	criteria provided, multiple submitters, no conflicts

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