"Blueprint Genetics"[submitter] AND "CRX"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99598	NM_000554.6(CRX):c.24dup (p.Pro9fs)	CRX (P9fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867204	NM_000554.6(CRX):c.43G>C (p.Ala15Pro)	CRX (A15P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 864383	NM_000554.6(CRX):c.118C>T (p.Arg40Trp)	CRX (R40W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 7418	NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	CRX (R41W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +4 more	GPathogenic
Select item 7421	NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	CRX (R41Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 216914	NM_000554.6(CRX):c.124G>A (p.Glu42Lys)	CRX (E42K)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 560444	NM_000554.6(CRX):c.205C>T (p.Arg69Cys)	CRX (R69C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 865803	NM_000554.6(CRX):c.239A>G (p.Glu80Gly)	CRX (E80G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 7422	NM_000554.6(CRX):c.268C>T (p.Arg90Trp)	CRX (R90W)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 866673	NM_000554.6(CRX):c.313C>T (p.Gln105Ter)	CRX (Q105*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 867106	NM_000554.6(CRX):c.378A>C (p.Arg126Ser)	CRX (R126S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866806	NM_000554.6(CRX):c.431_434del (p.Pro144fs)	CRX (P144fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7 +2 more	GPathogenic/Likely pathogenic
Select item 866158	NM_000554.6(CRX):c.437_449del (p.Leu146fs)	CRX (L146fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7 +2 more	GLikely pathogenic
Select item 867219	NM_000554.6(CRX):c.586del (p.Ala196fs)	CRX (A196fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 839142	NM_000554.6(CRX):c.594_606del (p.Ser199fs)	CRX (S199fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 866251	NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs)	CRX (Y208fs)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 425193	NM_000554.6(CRX):c.663C>A (p.Tyr221Ter)	CRX (Y221*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 2 +3 more	GLikely pathogenic
Select item 866884	NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile)	CRX (L229I)	Indel (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 866266	NM_000554.6(CRX):c.873G>T (p.Gln291His)	CRX (Q291H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance