"Blueprint Genetics"[submitter] AND "PDE6C"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866137	NM_006204.4(PDE6C):c.251T>C (p.Leu84Pro)	PDE6C (L84P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 866430	NM_006204.4(PDE6C):c.481-4T>A	PDE6C	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 867146	NM_006204.4(PDE6C):c.481-1G>A	PDE6C	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 867144	NM_006204.4(PDE6C):c.736T>C (p.Ser246Pro)	PDE6C (S246P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866407	NM_006204.4(PDE6C):c.1083_1086dup (p.Asn363fs)	PDE6C (N363fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866136	NM_006204.4(PDE6C):c.1250A>G (p.His417Arg)	PDE6C (H417R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 866134	NM_006204.4(PDE6C):c.1756T>C (p.Tyr586His)	PDE6C (Y586H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866406	NM_006204.4(PDE6C):c.2304_2305del (p.Arg769_Asp770insTer)	PDE6C	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866809	NM_006204.4(PDE6C):c.2425del (p.Arg809fs)	PDE6C (R809fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic