NR1H4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 219163	NG_029843.1:g.23704_55438del	NR1H4	Deletion	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 1268468	NM_001206979.2(NR1H4):c.-54-205G>A	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295126	NM_001206979.2(NR1H4):c.-54-202C>T	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259641	NM_001206979.2(NR1H4):c.-1G>T	NR1H4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 595191	NM_001206979.2(NR1H4):c.1A>G (p.Met1Val)	NR1H4 (M1V)	Single nucleotide variant (missense variant +2 more)	Cholestasis, progressive familial intrahepatic, 5 +1 more	GUncertain significance
Select item 290853	NM_001206979.2(NR1H4):c.18T>C (p.Asn6=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2191391	NM_001206979.2(NR1H4):c.47C>T (p.Thr16Ile)	NR1H4 (T16I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1273848	NM_001206979.2(NR1H4):c.79+121T>C	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2635685	NM_001206979.2(NR1H4):c.80-7395T>A	NR1H4	Single nucleotide variant (5 prime UTR variant +1 more)	NR1H4-related disorder	GUncertain significance
Select item 1224977	NM_001206979.2(NR1H4):c.80-7340C>T	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3234521	NM_001206979.2(NR1H4):c.80-7329C>T	NR1H4 (T21M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3036545	NM_001206979.2(NR1H4):c.80-7328G>A	NR1H4	Single nucleotide variant (synonymous variant +1 more)	NR1H4-related disorder	GLikely benign
Select item 1271831	NM_001206979.2(NR1H4):c.80-7325G>A	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3036230	NM_001206979.2(NR1H4):c.80-7273C>G	NR1H4	Single nucleotide variant (intron variant)	NR1H4-related disorder	GLikely benign
Select item 1287710	NM_001206979.2(NR1H4):c.80-7147A>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298553	NM_001206979.2(NR1H4):c.80-5155C>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1250108	NM_001206979.2(NR1H4):c.80-170TA[13]	NR1H4	Microsatellite (intron variant)	not provided	GBenign
Select item 1260312	NM_001206979.2(NR1H4):c.80-108del	NR1H4	Deletion (intron variant)	not provided	GBenign
Select item 1917351	NM_001206979.2(NR1H4):c.80-12A>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 711574	NM_001206979.2(NR1H4):c.82G>A (p.Val28Ile)	NR1H4 (V38I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1691436	NM_001206979.2(NR1H4):c.91G>T (p.Glu31Ter)	NR1H4 (E31* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 281532	NM_001206979.2(NR1H4):c.107C>T (p.Pro36Leu)	NR1H4 (P36L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3036648	NM_001206979.2(NR1H4):c.117G>A (p.Gln39=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	NR1H4-related disorder	GLikely benign
Select item 597895	NM_001206979.2(NR1H4):c.141G>T (p.Ser47=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 597856	NM_001206979.2(NR1H4):c.147C>T (p.Tyr49=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1586622	NM_001206979.2(NR1H4):c.180G>A (p.Gln60=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1359856	NM_001206979.2(NR1H4):c.188C>T (p.Ser63Leu)	NR1H4 (S73L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596067	NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys)	NR1H4 (R90C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 498332	NM_001206979.2(NR1H4):c.302C>T (p.Thr101Ile)	NR1H4 (T101I +1 more)	Single nucleotide variant (missense variant +1 more)	NR1H4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2312169	NM_001206979.2(NR1H4):c.316A>T (p.Met106Leu)	NR1H4 (M116L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 593211	NM_001206979.2(NR1H4):c.345C>T (p.Gly115=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1694078	NM_001206979.2(NR1H4):c.374A>G (p.Glu125Gly)	NR1H4 (E125G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434431	NM_001206979.2(NR1H4):c.380G>A (p.Cys127Tyr)	NR1H4 (C127Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GUncertain significance
Select item 3201890	NM_001206979.2(NR1H4):c.400G>A (p.Ala134Thr)	NR1H4 (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2190968	NM_001206979.2(NR1H4):c.426G>A (p.Leu142=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 595549	NM_001206979.2(NR1H4):c.428C>T (p.Thr143Ile)	NR1H4 (T143I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 288346	NM_001206979.2(NR1H4):c.438G>A (p.Gly146=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 593492	NM_001206979.2(NR1H4):c.445+5G>A	NR1H4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1239622	NM_001206979.2(NR1H4):c.445+295T>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031026	NM_001206979.2(NR1H4):c.446-7C>T	NR1H4	Single nucleotide variant (intron variant)	NR1H4-related disorder	GLikely benign
Select item 3201891	NM_001206979.2(NR1H4):c.463A>G (p.Ile155Val)	NR1H4 (I165V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3048061	NM_001206979.2(NR1H4):c.474C>T (p.Asn158=)	NR1H4	Single nucleotide variant (synonymous variant +2 more)	NR1H4-related disorder	GLikely benign
Select item 597003	NM_001206979.2(NR1H4):c.479T>C (p.Val160Ala)	NR1H4 (V160A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2908671	NM_001206979.2(NR1H4):c.495C>T (p.Asn165=)	NR1H4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2524951	NM_001206979.2(NR1H4):c.511A>G (p.Met171Val)	NR1H4 (M171V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 291196	NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr)	NR1H4 (M173T +1 more)	Single nucleotide variant (missense variant +2 more)	NR1H4-related disorder +2 more	GConflicting classifications of pathogenicity
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 498806	NM_001206979.2(NR1H4):c.547C>T (p.Arg183Ter)	NR1H4 (R183* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2830660	NM_001206979.2(NR1H4):c.565G>T (p.Glu189Ter)	NR1H4 (E199* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1929001	NM_001206979.2(NR1H4):c.573A>C (p.Gly191=)	NR1H4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 595649	NM_001206979.2(NR1H4):c.588T>C (p.Cys196=)	NR1H4	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1260313	NM_001206979.2(NR1H4):c.598+186G>A	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2531743	NM_001206979.2(NR1H4):c.622A>G (p.Lys208Glu)	NR1H4 (K204E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2974208	NM_001206979.2(NR1H4):c.654G>A (p.Gln218=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	NR1H4-related disorder +1 more	GLikely benign
Select item 502321	NM_001206979.2(NR1H4):c.655C>T (p.His219Tyr)	NR1H4 (H215Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 593058	NM_001206979.2(NR1H4):c.658G>T (p.Ala220Ser)	NR1H4 (A220S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3032668	NM_001206979.2(NR1H4):c.669C>A (p.Thr223=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	NR1H4-related disorder	GLikely benign
Select item 2400530	NM_001206979.2(NR1H4):c.692G>A (p.Arg231His)	NR1H4 (R231H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 594319	NM_001206979.2(NR1H4):c.725C>T (p.Ser242Leu)	NR1H4 (S238L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 288452	NM_001206979.2(NR1H4):c.732+6A>G	NR1H4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1231661	NM_001206979.2(NR1H4):c.733-77C>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242811	NM_001206979.2(NR1H4):c.733-26C>T	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 593285	NM_001206979.2(NR1H4):c.733-2A>G	NR1H4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 593983	NM_001206979.2(NR1H4):c.740C>T (p.Thr247Ile)	NR1H4 (T243I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 597101	NM_001206979.2(NR1H4):c.750C>T (p.Thr250=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2297599	NM_001206979.2(NR1H4):c.764C>G (p.Thr255Ser)	NR1H4 (T255S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3029679	NM_001206979.2(NR1H4):c.765T>G (p.Thr255=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	NR1H4-related disorder	GLikely benign
Select item 498609	NM_001206979.2(NR1H4):c.795C>T (p.Asn265=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1683627	NM_001206979.2(NR1H4):c.831+1G>T	NR1H4	Single nucleotide variant (splice donor variant)	Cholestasis, progressive familial intrahepatic, 5	GLikely pathogenic
Select item 498106	NM_001206979.2(NR1H4):c.831+1G>A	NR1H4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 778646	NM_001206979.2(NR1H4):c.831+8T>A	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246288	NM_001206979.2(NR1H4):c.832-31T>A	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3022624	NM_001206979.2(NR1H4):c.832-20G>T	NR1H4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259643	NM_001206979.2(NR1H4):c.832-16T>A	NR1H4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2074373	NM_001206979.2(NR1H4):c.875C>T (p.Thr292Met)	NR1H4 (T241M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3064862	NM_001206979.2(NR1H4):c.883G>T (p.Ala295Ser)	NR1H4 (A244S +4 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GUncertain significance
Select item 1339549	NM_001206979.2(NR1H4):c.887C>T (p.Thr296Ile)	NR1H4 (T245I +4 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GLikely pathogenic
Select item 283135	NM_001206979.2(NR1H4):c.893A>G (p.His298Arg)	NR1H4 (H298R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 497610	NM_001206979.2(NR1H4):c.900G>A (p.Gln300=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 598396	NM_001206979.2(NR1H4):c.923dup (p.Leu309fs)	NR1H4 (L309fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 259644	NM_001206979.2(NR1H4):c.931+19A>C	NR1H4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 598694	NM_001206979.2(NR1H4):c.933A>T (p.Gly311=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 497609	NM_001206979.2(NR1H4):c.963T>C (p.Ile321=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	NR1H4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2687828	NM_001206979.2(NR1H4):c.976G>C (p.Gly326Arg)	NR1H4 (G275R +4 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GLikely pathogenic
Select item 498803	NM_001206979.2(NR1H4):c.984G>A (p.Ala328=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2412545	NM_001206979.2(NR1H4):c.1003C>T (p.Arg335Cys)	NR1H4 (R284C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 804467	NM_001206979.2(NR1H4):c.1034del (p.Pro345fs)	NR1H4 (P294fs +4 more)	Deletion (frameshift variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GLikely pathogenic
Select item 1672586	NM_001206979.2(NR1H4):c.1038T>G (p.Ser346=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622415	NM_001206979.2(NR1H4):c.1058A>C (p.Glu353Ala)	NR1H4 (E302A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 502027	NM_001206979.2(NR1H4):c.1072A>C (p.Asn358His)	NR1H4 (N354H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1238228	NM_001206979.2(NR1H4):c.1078+195A>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283101	NM_001206979.2(NR1H4):c.1078+249C>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222146	NM_001206979.2(NR1H4):c.1079-285C>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3028937	NM_001206979.2(NR1H4):c.1079-10T>C	NR1H4	Single nucleotide variant (intron variant)	NR1H4-related disorder	GLikely benign
Select item 593955	NM_001206979.2(NR1H4):c.1079-8C>T	NR1H4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3201888	NM_001206979.2(NR1H4):c.1098A>G (p.Ile366Met)	NR1H4 (I362M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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