"PDE6C-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497465	NM_006204.4(PDE6C):c.219G>T (p.Gly73=)	PDE6C	Single nucleotide variant (synonymous variant)	PDE6C-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1167612	NM_006204.4(PDE6C):c.315C>T (p.Asn105=)	PDE6C	Single nucleotide variant (synonymous variant)	PDE6C-related disorder +1 more	GBenign/Likely benign
Select item 880176	NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)	PDE6C (L138S)	Single nucleotide variant (missense variant)	PDE6C-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 866430	NM_006204.4(PDE6C):c.481-4T>A	PDE6C	Single nucleotide variant (intron variant)	PDE6C-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1103715	NM_006204.4(PDE6C):c.865-4C>T	PDE6C	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1454710	NM_006204.4(PDE6C):c.939+2T>G	PDE6C	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1112788	NM_006204.4(PDE6C):c.1008G>A (p.Thr336=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1643320	NM_006204.4(PDE6C):c.1176T>C (p.Ile392=)	PDE6C	Single nucleotide variant (synonymous variant)	PDE6C-related disorder +1 more	GLikely benign
Select item 1069941	NM_006204.4(PDE6C):c.1669C>T (p.Arg557Ter)	PDE6C (R557*)	Single nucleotide variant (nonsense)	PDE6C-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1949846	NM_006204.4(PDE6C):c.1738-3dup	PDE6C	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2054398	NM_006204.4(PDE6C):c.1738-9T>C	PDE6C	Single nucleotide variant (intron variant)	PDE6C-related disorder +1 more	GLikely benign
Select item 95345	NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile)	PDE6C (M694I)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +3 more	GConflicting classifications of pathogenicity
Select item 1117122	NM_006204.4(PDE6C):c.2160G>A (p.Thr720=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1154606	NM_006204.4(PDE6C):c.2209-6T>C	PDE6C	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 866406	NM_006204.4(PDE6C):c.2304_2305del (p.Arg769_Asp770insTer)	PDE6C	Deletion (frameshift variant)	PDE6C-related disorder +2 more	GPathogenic/Likely pathogenic