"Ambry Genetics"[submitter] AND "NR1D2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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

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Items: 24