"Blueprint Genetics"[submitter] AND "CDHR1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866140	NM_033100.4(CDHR1):c.55+1G>A	CDHR1	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 37292	NM_033100.4(CDHR1):c.338del (p.Gly113fs)	CDHR1 (G113fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 301222	NM_033100.4(CDHR1):c.700G>A (p.Val234Ile)	CDHR1 (V234I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15 +2 more	GConflicting classifications of pathogenicity
Select item 301224	NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	CDHR1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 866189	NM_033100.4(CDHR1):c.790del (p.Glu264fs)	CDHR1 (E264fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866379	NM_033100.4(CDHR1):c.808G>A (p.Ala270Thr)	CDHR1 (A270T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866838	NM_033100.4(CDHR1):c.954_958del (p.His319fs)	CDHR1 (H319fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866599	NM_033100.4(CDHR1):c.1162G>A (p.Asp388Asn)	CDHR1 (D388N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867148	NM_033100.4(CDHR1):c.1367C>A (p.Ala456Glu)	CDHR1 (A456E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 866762	NM_033100.4(CDHR1):c.1468delinsCGC (p.Ser490fs)	CDHR1 (S490fs)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 847679	NM_033100.4(CDHR1):c.1485+2T>C	CDHR1	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866601	NM_033100.4(CDHR1):c.1883A>G (p.Glu628Gly)	CDHR1 (E628G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 861808	NM_033100.4(CDHR1):c.2410_2485del (p.Thr804fs)	CDHR1 (T804fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 194793	NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	CDHR1 (I841fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic