ClinVar for Gene (Select 10062) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300928	NM_005693.4(NR1H3):c.959G>C (p.Ser320Thr)	NR1H3 (S275T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300927	NM_005693.4(NR1H3):c.1257C>G (p.Ser419Arg)	NR1H3 (S359R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300926	NM_005693.4(NR1H3):c.298G>A (p.Val100Met)	NR1H3 (V55M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300925	NM_005693.4(NR1H3):c.1013C>G (p.Pro338Arg)	NR1H3 (P278R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300924	NM_005693.4(NR1H3):c.241C>T (p.Pro81Ser)	NR1H3 (P36S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300923	NM_005693.4(NR1H3):c.1172C>T (p.Ala391Val)	NR1H3 (A331V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300922	NM_005693.4(NR1H3):c.77A>G (p.Gln26Arg)	NR1H3 (Q26R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201887	NM_005693.4(NR1H3):c.970G>A (p.Glu324Lys)	NR1H3 (E219K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201886	NM_005693.4(NR1H3):c.86G>A (p.Ser29Asn)	NR1H3 (S29N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201884	NM_005693.4(NR1H3):c.79G>C (p.Asp27His)	NR1H3 (D27H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201883	NM_005693.4(NR1H3):c.575T>C (p.Leu192Ser)	NR1H3 (L192S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201882	NM_005693.4(NR1H3):c.555A>T (p.Glu185Asp)	NR1H3 (E185D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201881	NM_005693.4(NR1H3):c.37C>T (p.Pro13Ser)	NR1H3 (P13S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201880	NM_005693.4(NR1H3):c.251G>A (p.Arg84Gln)	NR1H3 (R84Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138725	NM_001610.4(ACP2):c.32C>A (p.Ala11Glu)	ACP2, LOC130005671 +1 more (A11E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2619543	NM_005693.4(NR1H3):c.475C>T (p.Arg159Cys)	NR1H3 (R165C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606954	NM_005693.4(NR1H3):c.577C>T (p.Pro193Ser)	NR1H3 (P148S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605468	NM_005693.4(NR1H3):c.1015A>G (p.Ile339Val)	NR1H3 (I234V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	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 2382164	NM_005693.4(NR1H3):c.67C>A (p.Pro23Thr)	NR1H3 (P29T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375974	NM_005693.4(NR1H3):c.911G>A (p.Arg304Gln)	NR1H3 (R304Q +4 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2276183	NM_005693.4(NR1H3):c.934A>C (p.Ser312Arg)	NR1H3 (S267R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268022	NM_005693.4(NR1H3):c.1221G>C (p.Met407Ile)	NR1H3 (M302I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259014	NM_005693.4(NR1H3):c.376G>A (p.Val126Ile)	NR1H3 (V126I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252542	NM_005693.4(NR1H3):c.1298A>G (p.Lys433Arg)	NR1H3 (K328R +4 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1459820	NC_000011.9:g.(?_46880534)_(47470516_?)del	ACP2, ARFGAP2 +12 more	Deletion	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 786418	NM_001610.4(ACP2):c.28C>T (p.Arg10Trp)	ACP2, LOC130005671 +1 more (R10W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 723351	NM_005693.4(NR1H3):c.393C>T (p.His131=)	NR1H3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720955	NM_005693.4(NR1H3):c.333T>C (p.Asn111=)	NR1H3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 558909	NM_001610.4(ACP2):c.86G>A (p.Arg29Gln)	LOC130005671, NR1H3 +1 more (R29Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 525135	NC_000011.9:g.(?_46880514)_(47470726_?)del	MADD-AS1, ARFGAP2 +12 more	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
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 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 48