NR1D2[gene] - ClinVar

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

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 147469	GRCh38/hg38 3p24.3-24.2(chr3:23404410-24270481)x3	LINC00691, LOC121725135 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2520819	NM_005126.5(NR1D2):c.7G>A (p.Val3Met)	NKIRAS1, NR1D2 (V3M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3201874	NM_005126.5(NR1D2):c.32A>C (p.Tyr11Ser)	NR1D2 (Y11S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2227469	NM_005126.5(NR1D2):c.181G>A (p.Ala61Thr)	NR1D2 (A61T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2308215	NM_005126.5(NR1D2):c.184A>T (p.Asn62Tyr)	NR1D2 (N62Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2272776	NM_005126.5(NR1D2):c.185A>G (p.Asn62Ser)	NR1D2 (N62S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3300919	NM_005126.5(NR1D2):c.226A>G (p.Met76Val)	NR1D2 (M76V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2653627	NM_005126.5(NR1D2):c.330G>A (p.Ala110=)	NR1D2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 775851	NM_005126.5(NR1D2):c.360C>T (p.Cys120=)	NR1D2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2327299	NM_005126.5(NR1D2):c.440C>T (p.Ser147Phe)	NR1D2 (S72F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 690345	NM_005126.5(NR1D2):c.523C>T (p.Arg175Trp)	NR1D2 (R100W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial atrioventricular septal defect	GLikely pathogenic
Select item 2621432	NM_005126.5(NR1D2):c.602G>T (p.Ser201Ile)	NR1D2 (S126I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327300	NM_005126.5(NR1D2):c.664C>T (p.Pro222Ser)	NR1D2 (P147S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558149	NM_005126.5(NR1D2):c.711C>G (p.Asn237Lys)	NR1D2 (N237K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493942	NM_005126.5(NR1D2):c.769G>T (p.Val257Leu)	NR1D2 (V257L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392571	NM_005126.5(NR1D2):c.818A>G (p.Glu273Gly)	NR1D2 (E273G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272311	NM_005126.5(NR1D2):c.833G>A (p.Ser278Asn)	NR1D2 (S203N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201875	NM_005126.5(NR1D2):c.891T>A (p.Asn297Lys)	NR1D2 (N222K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201877	NM_005126.5(NR1D2):c.896A>G (p.Asp299Gly)	NR1D2 (D299G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460830	NM_005126.5(NR1D2):c.902G>A (p.Cys301Tyr)	NR1D2 (C226Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201869	NM_005126.5(NR1D2):c.1241A>G (p.Lys414Arg)	NR1D2 (K339R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333922	NM_005126.5(NR1D2):c.1299C>G (p.Asp433Glu)	NR1D2 (D358E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246651	NM_005126.5(NR1D2):c.1329T>G (p.Phe443Leu)	NR1D2 (F443L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201871	NM_005126.5(NR1D2):c.1346G>A (p.Arg449Gln)	NR1D2 (R374Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404225	NM_005126.5(NR1D2):c.1370A>G (p.Lys457Arg)	NR1D2 (K457R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201872	NM_005126.5(NR1D2):c.1426T>G (p.Ser476Ala)	NR1D2 (S401A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526483	NM_005126.5(NR1D2):c.1576G>C (p.Glu526Gln)	NR1D2 (E451Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487612	NM_005126.5(NR1D2):c.1641G>C (p.Glu547Asp)	NR1D2 (E547D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201873	NM_005126.5(NR1D2):c.1648A>G (p.Ile550Val)	NR1D2 (I475V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 687662	GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1	EFHB, KAT2B +15 more	Copy number loss	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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: 47