NR2E1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044705	NM_003269.5(NR2E1):c.12A>G (p.Pro4=)	NR2E1	Single nucleotide variant (synonymous variant)	NR2E1-related disorder	GLikely benign
Select item 3040587	NM_003269.5(NR2E1):c.25+1341A>T	NR2E1	Single nucleotide variant (synonymous variant +1 more)	NR2E1-related disorder	GLikely benign
Select item 2599634	NM_003269.5(NR2E1):c.169C>G (p.Gln57Glu)	NR2E1 (Q94E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201920	NM_003269.5(NR2E1):c.245A>G (p.Asn82Ser)	NR2E1 (N82S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053203	NM_003269.5(NR2E1):c.279G>A (p.Gly93=)	NR2E1	Single nucleotide variant (synonymous variant)	NR2E1-related disorder	GLikely benign
Select item 3058415	NM_003269.5(NR2E1):c.336G>A (p.Glu112=)	NR2E1	Single nucleotide variant (synonymous variant)	NR2E1-related disorder	GLikely benign
Select item 2457438	NM_003269.5(NR2E1):c.364T>C (p.Ser122Pro)	NR2E1 (S159P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313657	NM_003269.5(NR2E1):c.393C>G (p.Phe131Leu)	NR2E1 (F131L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292815	NM_003269.5(NR2E1):c.406C>G (p.Gln136Glu)	NR2E1 (Q136E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048773	NM_003269.5(NR2E1):c.496-3C>T	NR2E1	Single nucleotide variant (intron variant)	NR2E1-related disorder	GBenign
Select item 2478278	NM_003269.5(NR2E1):c.768G>C (p.Gln256His)	NR2E1 (Q293H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335735	NM_003269.5(NR2E1):c.785T>C (p.Ile262Thr)	NR2E1 (I262T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238586	NM_003269.5(NR2E1):c.874G>A (p.Val292Ile)	NR2E1 (V329I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201921	NM_003269.5(NR2E1):c.926G>A (p.Arg309Gln)	NR2E1 (R309Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532057	NM_003269.5(NR2E1):c.937G>A (p.Ala313Thr)	NR2E1 (A313T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494100	NM_003269.5(NR2E1):c.971C>T (p.Thr324Met)	NR2E1 (T324M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532850	NM_003269.5(NR2E1):c.1003A>G (p.Thr335Ala)	NR2E1 (T372A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300943	NM_003269.5(NR2E1):c.1102G>A (p.Gly368Ser)	NR2E1 (G368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance