NR1H3[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 2591913	NM_001610.4(ACP2):c.110C>G (p.Thr37Ser)	ACP2, LOC130005671 +1 more (T37S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 558909	NM_001610.4(ACP2):c.86G>A (p.Arg29Gln)	ACP2, LOC130005671 +1 more (R29Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 786418	NM_001610.4(ACP2):c.28C>T (p.Arg10Trp)	NR1H3, ACP2 +1 more (R10W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2382164	NM_005693.4(NR1H3):c.67C>A (p.Pro23Thr)	NR1H3 (P29T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 779196	NM_005693.4(NR1H3):c.155G>T (p.Gly52Val)	NR1H3 (G7V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720955	NM_005693.4(NR1H3):c.333T>C (p.Asn111=)	NR1H3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2259014	NM_005693.4(NR1H3):c.376G>A (p.Val126Ile)	NR1H3 (V126I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723351	NM_005693.4(NR1H3):c.393C>T (p.His131=)	NR1H3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619543	NM_005693.4(NR1H3):c.475C>T (p.Arg159Cys)	NR1H3 (R165C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606954	NM_005693.4(NR1H3):c.577C>T (p.Pro193Ser)	NR1H3 (P148S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353172	NM_005693.4(NR1H3):c.739C>T (p.Arg247Trp)	NR1H3 (R202W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345937	NM_005693.4(NR1H3):c.848G>A (p.Arg283Gln)	NR1H3 (R238Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210408	NM_005693.4(NR1H3):c.866T>C (p.Leu289Pro)	NR1H3 (L295P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375974	NM_005693.4(NR1H3):c.911G>A (p.Arg304Gln)	NR1H3 (R304Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276183	NM_005693.4(NR1H3):c.934A>C (p.Ser312Arg)	NR1H3 (S267R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605468	NM_005693.4(NR1H3):c.1015A>G (p.Ile339Val)	NR1H3 (I234V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268022	NM_005693.4(NR1H3):c.1221G>C (p.Met407Ile)	NR1H3 (M302I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 226296	NM_005693.4(NR1H3):c.1244G>A (p.Arg415Gln)	NR1H3 (R415Q +4 more)	Single nucleotide variant (missense variant)	Multiple sclerosis	GPathogenic
Select item 2252542	NM_005693.4(NR1H3):c.1298A>G (p.Lys433Arg)	NR1H3 (K328R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1459820	NC_000011.9:g.(?_46880534)_(47470516_?)del	ACP2, ARFGAP2 +12 more	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	F2, FAM180B +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 525135	NC_000011.9:g.(?_46880514)_(47470726_?)del	ACP2, ARFGAP2 +12 more	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 33