NR1I3[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95259	NM_005122.5(NR1I3):c.917+17A>C	NR1I3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2514394	NM_005122.5(NR1I3):c.871A>T (p.Thr291Ser)	NR1I3 (T257S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385289	NM_005122.5(NR1I3):c.842T>C (p.Ile281Thr)	NR1I3 (I286T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549716	NM_005122.5(NR1I3):c.838G>A (p.Glu280Lys)	NR1I3 (E241K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205184	NM_005122.5(NR1I3):c.795G>A (p.Met265Ile)	NR1I3 (M240I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613372	NM_005122.5(NR1I3):c.791C>T (p.Ala264Val)	NR1I3 (A239V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608435	NM_005122.5(NR1I3):c.746T>A (p.Leu249Gln)	NR1I3 (L224Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 88894	NM_005122.5(NR1I3):c.728T>C (p.Phe243Ser)	NR1I3 (F247S +3 more)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1	GUncertain significance
Select item 3201907	NM_005122.5(NR1I3):c.658G>A (p.Gly220Arg)	NR1I3 (G191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 198181	NM_005122.5(NR1I3):c.657C>T (p.Cys219=)	NR1I3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 197773	NM_005122.5(NR1I3):c.541G>A (p.Val181Ile)	NR1I3 (V181I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197772	NM_005122.5(NR1I3):c.540C>T (p.Pro180=)	NR1I3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3201906	NM_005122.5(NR1I3):c.521A>G (p.Lys174Arg)	NR1I3 (K174R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209125	NM_005122.5(NR1I3):c.484G>A (p.Ala162Thr)	NR1I3 (A133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201905	NM_005122.5(NR1I3):c.466C>T (p.Pro156Ser)	NR1I3 (P127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201904	NM_005122.5(NR1I3):c.440C>G (p.Pro147Arg)	NR1I3 (P118R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 197771	NM_005122.5(NR1I3):c.431A>G (p.His144Arg)	NR1I3 (H144R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735350	NM_005122.5(NR1I3):c.426C>T (p.Phe142=)	NR1I3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201903	NM_005122.5(NR1I3):c.376G>A (p.Gly126Ser)	NR1I3 (G97S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741957	NM_005122.5(NR1I3):c.368G>A (p.Arg123His)	NR1I3 (R123H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 197250	NM_005122.5(NR1I3):c.362A>C (p.His121Pro)	NR1I3 (H121P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058262	NM_005122.5(NR1I3):c.351C>T (p.Leu117=)	NR1I3	Single nucleotide variant (synonymous variant)	NR1I3-related disorder	GLikely benign
Select item 3201902	NM_005122.5(NR1I3):c.344G>A (p.Arg115Gln)	NR1I3 (R86Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 283162	NM_005122.5(NR1I3):c.289C>T (p.Arg97Trp)	NR1I3 (R97W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 281914	NM_005122.5(NR1I3):c.258C>G (p.Ala86=)	NR1I3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2605469	NM_005122.5(NR1I3):c.228G>A (p.Met76Ile)	NR1I3 (M76I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 286414	NM_005122.5(NR1I3):c.226A>G (p.Met76Val)	NR1I3 (M76V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167383	NM_005122.5(NR1I3):c.182G>A (p.Arg61His)	NR1I3 (R61H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373259	NM_005122.5(NR1I3):c.145T>C (p.Phe49Leu)	NR1I3 (F20L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048641	NM_005122.5(NR1I3):c.144C>G (p.Pro48=)	NR1I3	Single nucleotide variant (synonymous variant)	NR1I3-related disorder	GLikely benign
Select item 2249078	NM_005122.5(NR1I3):c.128T>C (p.Ile43Thr)	NR1I3 (I14T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 282343	NM_001077482.2(NR1I3):c.108_110delGAG (p.Arg37del)	NR1I3	Deletion	not provided	GUncertain significance
Select item 2283587	NM_005122.5(NR1I3):c.16G>T (p.Asp6Tyr)	NR1I3 (D6Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037402	NM_005122.5(NR1I3):c.-43A>G	NR1I3 (K4R)	Single nucleotide variant (5 prime UTR variant +1 more)	NR1I3-related disorder	GLikely benign
Select item 3025135	NM_005122.5(NR1I3):c.-45T>C	NR1I3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639509	NC_000001.11:g.161238257C>A	NR1I3	Single nucleotide variant	not provided	GBenign

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Items: 36