NR1I3[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	LOC129931748, LOC129931749 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 3025652	NM_032174.6(TOMM40L):c.*595A>G	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639508	NM_032174.6(TOMM40L):c.*618G>A	NR1I3, TOMM40L (P258L +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 95258	NM_032174.6(TOMM40L):c.*694G>A	TOMM40L, NR1I3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 3045625	NM_032174.6(TOMM40L):c.*695C>A	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +1 more)	TOMM40L-related condition	GLikely benign
Select item 199103	NM_005122.5(NR1I3):c.1002G>T (p.Gln334His)	NR1I3, TOMM40L (Q343H +7 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2478206	NM_005122.5(NR1I3):c.979G>A (p.Gly327Arg)	NR1I3, TOMM40L (G327R +7 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 283161	NM_005122.5(NR1I3):c.978C>T (p.Tyr326=)	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GBenign
Select item 167381	NM_005122.5(NR1I3):c.939A>C (p.Leu313=)	NR1I3, TOMM40L	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 167382	NM_005122.5(NR1I3):c.930G>A (p.Ala310=)	NR1I3, TOMM40L	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
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)	Inborn genetic diseases	GUncertain significance
Select item 2385289	NM_005122.5(NR1I3):c.842T>C (p.Ile281Thr)	NR1I3 (I286T +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549716	NM_005122.5(NR1I3):c.838G>A (p.Glu280Lys)	NR1I3 (E241K +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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 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)	NR1I3-related condition +1 more	GBenign
Select item 2209125	NM_005122.5(NR1I3):c.484G>A (p.Ala162Thr)	NR1I3 (A133T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 condition	GLikely benign
Select item 283162	NM_005122.5(NR1I3):c.289C>T (p.Arg97Trp)	NR1I3 (R97W +1 more)	Single nucleotide variant (missense variant)	NR1I3-related condition +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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3048641	NM_005122.5(NR1I3):c.144C>G (p.Pro48=)	NR1I3	Single nucleotide variant (synonymous variant)	NR1I3-related condition	GLikely benign
Select item 2249078	NM_005122.5(NR1I3):c.128T>C (p.Ile43Thr)	NR1I3 (I14T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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 condition	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
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808470	GRCh37/hg19 1q23.3(chr1:161207985-161437998)x3	CFAP126, MPZ +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527337	GRCh37/hg19 1q23.3(chr1:161207984-161404272)	CFAP126, MPZ +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	CD244, DEDD +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 687408	GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3	ADAMTS4, APOA2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 59