"Eurofins Ntd Llc (ga)"[submitter] AND "CRX"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166968	NM_000554.6(CRX):c.101-3del	CRX	Deletion (intron variant)	Cone-rod dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 285904	NM_000554.6(CRX):c.102C>T (p.Ser34=)	CRX	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 99597	NM_000554.6(CRX):c.196G>A (p.Val66Ile)	CRX (V66I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +6 more	GBenign/Likely benign
Select item 498899	NM_000554.6(CRX):c.332A>G (p.Gln111Arg)	CRX (Q111R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +2 more	GUncertain significance
Select item 99604	NM_000554.6(CRX):c.365G>A (p.Gly122Asp)	CRX (G122D)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +6 more	GBenign/Likely benign
Select item 287182	NM_000554.6(CRX):c.403C>A (p.Pro135Thr)	CRX (P135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289219	NM_000554.6(CRX):c.448del (p.Ser150fs)	CRX (S150fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 99608	NM_000554.6(CRX):c.472G>A (p.Ala158Thr)	CRX (A158T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 287055	NM_000554.6(CRX):c.618C>T (p.Ser206=)	CRX	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 99621	NM_000554.6(CRX):c.724G>A (p.Val242Met)	CRX (V242M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 497549	NM_000554.6(CRX):c.856_865delinsGATCCC (p.Leu286fs)	CRX (L286fs)	Indel (frameshift variant)	not provided	GLikely pathogenic