ClinVar for Gene (Select 9971) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 127

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237163	NM_001206979.2(NR1H4):c.79G>T (p.Gly27Cys)	NR1H4 (G27C)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GPathogenic
Select item 3234828	NM_001206979.2(NR1H4):c.1186T>C (p.Ser396Pro)	NR1H4 (S345P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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
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 3054347	NM_001206979.2(NR1H4):c.1333C>A (p.Arg445=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	NR1H4-related disorder	GLikely benign
Select item 3052684	NM_001206979.2(NR1H4):c.1152G>A (p.Glu384=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	NR1H4-related disorder	GLikely benign
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 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 3036545	NM_001206979.2(NR1H4):c.80-7328G>A	NR1H4	Single nucleotide variant (synonymous variant +1 more)	NR1H4-related disorder	GLikely benign
Select item 3036230	NM_001206979.2(NR1H4):c.80-7273C>G	NR1H4	Single nucleotide variant (intron variant)	NR1H4-related disorder	GLikely benign
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 3031026	NM_001206979.2(NR1H4):c.446-7C>T	NR1H4	Single nucleotide variant (intron variant)	NR1H4-related disorder	GLikely benign
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 3028937	NM_001206979.2(NR1H4):c.1079-10T>C	NR1H4	Single nucleotide variant (intron variant)	NR1H4-related disorder	GLikely benign
Select item 3022624	NM_001206979.2(NR1H4):c.832-20G>T	NR1H4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2908671	NM_001206979.2(NR1H4):c.495C>T (p.Asn165=)	NR1H4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2786543	NM_001206979.2(NR1H4):c.1182C>A (p.Ile394=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2687827	NM_001206979.2(NR1H4):c.1280del (p.Gln427fs)	NR1H4 (Q376fs +4 more)	Deletion (frameshift variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GPathogenic
Select item 2683212	NM_001206979.2(NR1H4):c.1282C>G (p.Pro428Ala)	NR1H4 (P377A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 2278026	NM_001206979.2(NR1H4):c.1121A>G (p.Lys374Arg)	NR1H4 (K323R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236277	NM_001206979.2(NR1H4):c.1153G>A (p.Glu385Lys)	NR1H4 (E334K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2190968	NM_001206979.2(NR1H4):c.426G>A (p.Leu142=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1929001	NM_001206979.2(NR1H4):c.573A>C (p.Gly191=)	NR1H4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1917351	NM_001206979.2(NR1H4):c.80-12A>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701208	NM_001206979.2(NR1H4):c.1343A>G (p.Asn448Ser)	NR1H4 (N397S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 1672586	NM_001206979.2(NR1H4):c.1038T>G (p.Ser346=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
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 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 1298553	NM_001206979.2(NR1H4):c.80-5155C>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1295126	NM_001206979.2(NR1H4):c.-54-202C>T	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287710	NM_001206979.2(NR1H4):c.80-7147A>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 1273848	NM_001206979.2(NR1H4):c.79+121T>C	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271831	NM_001206979.2(NR1H4):c.80-7325G>A	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1268468	NM_001206979.2(NR1H4):c.-54-205G>A	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260313	NM_001206979.2(NR1H4):c.598+186G>A	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260312	NM_001206979.2(NR1H4):c.80-108del	NR1H4	Deletion (intron variant)	not provided	GBenign
Select item 1250108	NM_001206979.2(NR1H4):c.80-170TA[13]	NR1H4	Microsatellite (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 1242811	NM_001206979.2(NR1H4):c.733-26C>T	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239622	NM_001206979.2(NR1H4):c.445+295T>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238228	NM_001206979.2(NR1H4):c.1078+195A>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231661	NM_001206979.2(NR1H4):c.733-77C>G	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224977	NM_001206979.2(NR1H4):c.80-7340C>T	NR1H4	Single nucleotide variant (synonymous variant +1 more)	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 815547	GRCh37/hg19 12q23.1(chr12:100815231-100990942)x1	NR1H4, SLC17A8 +1 more	Copy number loss	not provided	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 778646	NM_001206979.2(NR1H4):c.831+8T>A	NR1H4	Single nucleotide variant (intron variant)	not provided	GBenign
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 688212	GRCh37/hg19 12q23.1(chr12:100880334-101045578)x3	GAS2L3, NR1H4	Copy number gain	not provided	GUncertain significance
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 598509	NM_001206979.2(NR1H4):c.1376G>A (p.Arg459Lys)	NR1H4 (R459K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 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 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 596897	NM_001206979.2(NR1H4):c.1319G>A (p.Arg440His)	NR1H4 (R440H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596314	NM_001206979.2(NR1H4):c.1353C>T (p.His451=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 595649	NM_001206979.2(NR1H4):c.588T>C (p.Cys196=)	NR1H4	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
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 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 594490	NM_001206979.2(NR1H4):c.1322T>C (p.Leu441Pro)	NR1H4 (L437P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 594308	NM_001206979.2(NR1H4):c.1106T>C (p.Met369Thr)	NR1H4 (M365T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 593955	NM_001206979.2(NR1H4):c.1079-8C>T	NR1H4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 593492	NM_001206979.2(NR1H4):c.445+5G>A	NR1H4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 593162	NM_001206979.2(NR1H4):c.1174A>G (p.Ile392Val)	NR1H4 (I388V +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 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
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 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 498806	NM_001206979.2(NR1H4):c.547C>T (p.Arg183Ter)	NR1H4 (R183* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic

<< First< Prev

Page of 2