NR1I2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +190 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	ADPRH, ARGFX +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 2293385	NM_003889.4(NR1I2):c.46C>T (p.His16Tyr)	NR1I2 (H16Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201899	NM_003889.4(NR1I2):c.78G>T (p.Lys26Asn)	NR1I2 (K26N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201900	NM_003889.4(NR1I2):c.91G>A (p.Ala31Thr)	NR1I2 (A70T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201894	NM_003889.4(NR1I2):c.124C>T (p.Arg42Cys)	NR1I2 (R42C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457186	NM_003889.4(NR1I2):c.178G>A (p.Gly60Arg)	NR1I2 (G60R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221587	NM_003889.4(NR1I2):c.248C>A (p.Ala83Asp)	NR1I2 (A122D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207300	NM_003889.4(NR1I2):c.298C>T (p.Arg100Cys)	NR1I2 (R100C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773133	NM_003889.4(NR1I2):c.315C>T (p.Ser105=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589526	NM_003889.4(NR1I2):c.346G>A (p.Glu116Lys)	NR1I2 (E116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511315	NM_003889.4(NR1I2):c.352G>A (p.Val118Met)	NR1I2 (V118M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710422	NM_003889.4(NR1I2):c.369C>T (p.Ala123=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3201896	NM_003889.4(NR1I2):c.379C>T (p.Arg127Trp)	NR1I2 (R166W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207698	NM_003889.4(NR1I2):c.401G>C (p.Gly134Ala)	NR1I2 (G173A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297011	NM_003889.4(NR1I2):c.437A>G (p.Glu146Gly)	NR1I2 (E185G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201897	NM_003889.4(NR1I2):c.484T>G (p.Phe162Val)	NR1I2 (F162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775899	NM_003889.4(NR1I2):c.492T>C (p.Thr164=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2654059	NM_003889.4(NR1I2):c.543C>T (p.Gly181=)	NR1I2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2379440	NM_003889.4(NR1I2):c.547G>A (p.Glu183Lys)	NR1I2 (E183K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408368	NM_003889.4(NR1I2):c.608G>A (p.Arg203Gln)	NR1I2 (R203Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201898	NM_003889.4(NR1I2):c.628A>G (p.Lys210Glu)	NR1I2 (K249E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405177	NM_003889.4(NR1I2):c.647G>A (p.Arg216Gln)	NR1I2 (R179Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726853	NM_003889.4(NR1I2):c.681C>A (p.Pro227=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787169	NM_003889.4(NR1I2):c.696C>T (p.Gly232=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377653	NM_003889.4(NR1I2):c.787T>C (p.Tyr263His)	NR1I2 (Y263H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369737	NM_003889.4(NR1I2):c.788A>G (p.Tyr263Cys)	NR1I2 (Y226C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734070	NM_003889.4(NR1I2):c.792C>T (p.Phe264=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209708	NM_003889.4(NR1I2):c.808G>A (p.Glu270Lys)	NR1I2 (E233K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597519	NM_003889.4(NR1I2):c.811G>A (p.Asp271Asn)	NR1I2 (D310N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549600	NM_003889.4(NR1I2):c.827T>A (p.Leu276Gln)	NR1I2 (L239Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788396	NM_003889.4(NR1I2):c.834G>A (p.Gly278=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3201892	NM_003889.4(NR1I2):c.1019A>G (p.Tyr340Cys)	NR1I2 (Y379C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375868	NM_003889.4(NR1I2):c.1058G>A (p.Arg353His)	NR1I2 (R316H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324530	NM_003889.4(NR1I2):c.1064G>T (p.Gly355Val)	NR1I2 (G318V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207489	NM_003889.4(NR1I2):c.1078C>T (p.Arg360Cys)	NR1I2 (R323C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201893	NM_003889.4(NR1I2):c.1142G>A (p.Arg381Gln)	NR1I2 (R381Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547189	NM_003889.4(NR1I2):c.1247A>T (p.Asp416Val)	NR1I2 (D379V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391633	NM_003889.4(NR1I2):c.1279G>C (p.Glu427Gln)	NR1I2 (E466Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527038	GRCh37/hg19 3q13.33(chr3:119354755-119773920)	CFAP91, COX17 +3 more	Copy number gain	not specified	GUncertain significance
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 395633	GRCh37/hg19 3q13.33(chr3:119188677-119500751)x3	ADPRH, CD80 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253772	GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3	CFAP91, PLA1A +7 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57