"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CRX"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 329693	NM_000554.6(CRX):c.28C>G (p.His10Asp)	CRX (H10D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 99593	NM_000554.6(CRX):c.100+2T>C	CRX	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 7421	NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	CRX (R41Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99597	NM_000554.6(CRX):c.196G>A (p.Val66Ile)	CRX (V66I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +6 more	GBenign/Likely benign
Select item 872652	NM_000554.6(CRX):c.206G>A (p.Arg69His)	CRX (R69H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 99600	NM_000554.6(CRX):c.253-15G>A	CRX	Single nucleotide variant (intron variant)	Cone-rod dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 1020865	NM_000554.6(CRX):c.263A>G (p.Lys88Arg)	CRX (K88R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 493264	NM_000554.6(CRX):c.327G>A (p.Gly109=)	CRX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 872653	NM_000554.6(CRX):c.380C>A (p.Pro127His)	CRX (P127H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425192	NM_000554.6(CRX):c.404del (p.Pro135fs)	CRX (P135fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99605	NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)	CRX (Y142C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +4 more	GConflicting classifications of pathogenicity
Select item 3026977	NM_000554.6(CRX):c.531T>C (p.Ala177=)	CRX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 425193	NM_000554.6(CRX):c.663C>A (p.Tyr221Ter)	CRX (Y221*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GLikely pathogenic
Select item 2650196	NM_000554.6(CRX):c.879C>G (p.Ala293=)	CRX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 329775	NM_000554.6(CRX):c.*2880T>C	CRX, TPRX2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 493601	GRCh37/hg19 19q13.33(chr19:48242225-48399399)x3	EHD2, NOP53 +4 more	Copy number gain	not provided	GUncertain significance