"Illumina Laboratory Services, Illumina"[submitter] AND "PDE6H"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307779	NM_006205.2(PDE6H):c.-102G>T	PDE6H	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 883444	NM_006205.3(PDE6H):c.-73C>A	PDE6H	Single nucleotide variant (5 prime UTR variant)	Retinal cone dystrophy 3A	GBenign
Select item 307780	NM_006205.3(PDE6H):c.-59G>C	PDE6H	Single nucleotide variant (5 prime UTR variant)	Retinal cone dystrophy 3A	GBenign
Select item 883445	NM_006205.3(PDE6H):c.-42C>T	PDE6H	Single nucleotide variant (5 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307781	NM_006205.3(PDE6H):c.-29G>C	PDE6H	Single nucleotide variant (5 prime UTR variant)	Retinal cone dystrophy 3A +1 more	GBenign/Likely benign
Select item 37245	NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)	PDE6H (S12*)	Single nucleotide variant (nonsense)	PDE6H-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 883446	NM_006205.3(PDE6H):c.59G>A (p.Arg20His)	PDE6H (R20H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 307782	NM_006205.3(PDE6H):c.195A>G (p.Pro65=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 881091	NM_006205.3(PDE6H):c.232G>T (p.Ala78Ser)	PDE6H (A78S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307783	NM_006205.3(PDE6H):c.*47G>C	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307784	NM_006205.3(PDE6H):c.*71C>T	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307785	NM_006205.3(PDE6H):c.*77C>G	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307786	NM_006205.3(PDE6H):c.*134G>A	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307787	NM_006205.3(PDE6H):c.*301A>G	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GBenign
Select item 307788	NM_006205.3(PDE6H):c.*319T>C	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GBenign
Select item 307789	NM_006205.3(PDE6H):c.*358T>G	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307790	NM_006205.3(PDE6H):c.*369A>G	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic