"PreventionGenetics, part of Exact Sciences"[submitter] AND "NR1H4"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3031026	NM_001206979.2(NR1H4):c.446-7C>T	NR1H4	Single nucleotide variant (intron variant)	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 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 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 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 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 259643	NM_001206979.2(NR1H4):c.832-16T>A	NR1H4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 259644	NM_001206979.2(NR1H4):c.931+19A>C	NR1H4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 3028937	NM_001206979.2(NR1H4):c.1079-10T>C	NR1H4	Single nucleotide variant (intron variant)	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 259642	NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=)	NR1H4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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

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Items: 21