ClinVar for Gene (Select 9975) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
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 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 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 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 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 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 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 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 2653627	NM_005126.5(NR1D2):c.330G>A (p.Ala110=)	NR1D2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 775851	NM_005126.5(NR1D2):c.360C>T (p.Cys120=)	NR1D2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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
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 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 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 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 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 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47