"Ambry Genetics"[submitter] AND "NR2E3"[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 846003	NM_014249.4(NR2E3):c.50C>T (p.Ala17Val)	NR2E3 (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	Color vision defect +11 more	GPathogenic/Likely pathogenic
Select item 1424225	NM_014249.4(NR2E3):c.163A>G (p.Ser55Gly)	NR2E3 (S55G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 558411	NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg)	NR2E3 (K57R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2279745	NM_014249.4(NR2E3):c.197G>A (p.Gly66Asp)	NR2E3 (G66D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 317005	NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg)	NR2E3 (S74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2146056	NM_014249.4(NR2E3):c.253G>T (p.Val85Leu)	NR2E3 (V85L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1955728	NM_014249.4(NR2E3):c.253G>A (p.Val85Met)	NR2E3 (V85M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 842192	NM_014249.4(NR2E3):c.391C>T (p.His131Tyr)	NR2E3 (H131Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 938992	NM_014249.4(NR2E3):c.449C>A (p.Pro150Gln)	NR2E3 (P150Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2229327	NM_014249.4(NR2E3):c.466A>C (p.Ser156Arg)	NR2E3 (S156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229350	NM_014249.4(NR2E3):c.481A>C (p.Thr161Pro)	NR2E3 (T161P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 991929	NM_014249.4(NR2E3):c.489G>A (p.Met163Ile)	NR2E3 (M163I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 554716	NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly)	NR2E3 (A175G)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GUncertain significance
Select item 1035162	NM_014249.4(NR2E3):c.529C>A (p.Leu177Ile)	NR2E3 (L177I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 964615	NM_014249.4(NR2E3):c.595A>G (p.Ser199Gly)	NR2E3 (S199G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2296716	NM_014249.4(NR2E3):c.661C>T (p.His221Tyr)	NR2E3 (H221Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 991932	NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys)	NR2E3 (E222K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 317018	NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp)	NR2E3 (E222D)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +5 more	GUncertain significance
Select item 969921	NM_014249.4(NR2E3):c.791G>A (p.Gly264Glu)	NR2E3 (G264E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1444773	NM_014249.4(NR2E3):c.902G>A (p.Arg301His)	NR2E3 (R301H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2140895	NM_014249.4(NR2E3):c.919A>C (p.Ile307Leu)	NR2E3 (I307L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2319149	NM_014249.4(NR2E3):c.941C>T (p.Ala314Val)	NR2E3 (A314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256386	NM_014249.4(NR2E3):c.949C>T (p.Pro317Ser)	NR2E3 (P317S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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: 24