C3151192[trait identifier] AND "Laboratory of Genetics in Ophthalmolog - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973905	NM_000554.6(CRX):c.191del (p.Pro64fs)	CRX (P64fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7	GPathogenic
Select item 7422	NM_000554.6(CRX):c.268C>T (p.Arg90Trp)	CRX (R90W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 973941	NM_000554.6(CRX):c.450del (p.Gly151fs)	CRX (G151fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7	GPathogenic
Select item 973942	NM_000554.6(CRX):c.458del (p.Pro153fs)	CRX (P153fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7	GPathogenic
Select item 973898	NM_000554.6(CRX):c.489G>A (p.Trp163Ter)	CRX (W163*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 7	GPathogenic
Select item 973899	NM_000554.6(CRX):c.512del (p.Leu171fs)	CRX (L171fs)	Deletion (frameshift variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 973900	NM_000554.6(CRX):c.523C>T (p.Gln175Ter)	CRX (Q175*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 2 +2 more	GPathogenic
Select item 973901	NM_000554.6(CRX):c.549del (p.Pro184fs)	CRX (P184fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7	GPathogenic
Select item 973902	NM_000554.6(CRX):c.570del (p.Tyr191fs)	CRX (Y191fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7	GPathogenic
Select item 973903	NM_000554.6(CRX):c.585C>A (p.Tyr195Ter)	CRX (Y195*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 7	GPathogenic
Select item 191298	NM_000554.6(CRX):c.695del (p.Pro232fs)	CRX (P232fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 973904	NM_000554.6(CRX):c.816del (p.Thr273fs)	CRX (T273fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7	GPathogenic