"Ambry Genetics"[submitter] AND "NR1H3"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2252542	NM_005693.4(NR1H3):c.1298A>G (p.Lys433Arg)	NR1H3 (K328R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 21