C1849394[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 856848	NM_014249.4(NR2E3):c.67G>C (p.Ala23Pro)	NR2E3 (A23P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GUncertain significance
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome +11 more	GPathogenic/Likely pathogenic
Select item 1001884	NM_014249.4(NR2E3):c.142C>T (p.Arg48Cys)	NR2E3 (R48C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1348597	NM_014249.4(NR2E3):c.164G>A (p.Ser55Asn)	NR2E3 (S55N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GUncertain significance
Select item 551852	NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)	NR2E3	Deletion (inframe_deletion)	Enhanced S-cone syndrome +3 more	GPathogenic/Likely pathogenic
Select item 795985	NM_014249.4(NR2E3):c.222C>T (p.Ser74=)	NR2E3	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GLikely benign
Select item 952420	NM_014249.4(NR2E3):c.223G>A (p.Val75Ile)	NR2E3 (V75I)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 143146	NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys)	NR2E3 (E121K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1446484	NM_014249.4(NR2E3):c.371C>T (p.Pro124Leu)	NR2E3 (P124L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 991932	NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys)	NR2E3 (E222K)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GUncertain significance
Select item 5532	NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	NR2E3 (R311Q)	Single nucleotide variant (missense variant)	NR2E3-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 850215	NM_014249.4(NR2E3):c.953C>T (p.Thr318Met)	NR2E3 (T318M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GUncertain significance
Select item 551766	NM_014249.4(NR2E3):c.998C>T (p.Thr333Met)	NR2E3 (T333M)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 932078	NM_014249.4(NR2E3):c.1001G>A (p.Arg334Gln)	NR2E3 (R334Q)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +1 more	GUncertain significance
Select item 967520	NM_014249.4(NR2E3):c.1127C>T (p.Pro376Leu)	NR2E3 (P376L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +3 more	GUncertain significance
Select item 807279	NM_014249.4(NR2E3):c.1127C>A (p.Pro376Gln)	NR2E3 (P376Q)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 552868	NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr)	NR2E3 (P399T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GConflicting classifications of pathogenicity