"Illumina Laboratory Services, Illumina"[submitter] AND "PDE6C"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301614	NM_006204.4(PDE6C):c.-21C>T	PDE6C	Single nucleotide variant (5 prime UTR variant)	Achromatopsia +1 more	GUncertain significance
Select item 877341	NM_006204.4(PDE6C):c.-7C>A	PDE6C	Single nucleotide variant (5 prime UTR variant)	Achromatopsia +1 more	GUncertain significance
Select item 301615	NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu)	PDE6C (G34E)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +2 more	GUncertain significance
Select item 301616	NM_006204.4(PDE6C):c.124G>A (p.Val42Met)	PDE6C (V42M)	Single nucleotide variant (missense variant)	Achromatopsia +3 more	GUncertain significance
Select item 259944	NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile)	PDE6C (T68I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 301617	NM_006204.4(PDE6C):c.252G>T (p.Leu84=)	PDE6C	Single nucleotide variant (synonymous variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 95346	NM_006204.4(PDE6C):c.252G>A (p.Leu84=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +3 more	GBenign
Select item 95347	NM_006204.4(PDE6C):c.282C>T (p.Asp94=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +3 more	GBenign
Select item 878955	NM_006204.4(PDE6C):c.283C>T (p.Arg95Cys)	PDE6C (R95C)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GUncertain significance
Select item 878956	NM_006204.4(PDE6C):c.306G>A (p.Arg102=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 301618	NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser)	PDE6C (G106S)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +2 more	GUncertain significance
Select item 301619	NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu)	PDE6C (P119L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 880176	NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)	PDE6C (L138S)	Single nucleotide variant (missense variant)	PDE6C-related condition +4 more	GConflicting classifications of pathogenicity
Select item 301620	NM_006204.4(PDE6C):c.446C>T (p.Thr149Met)	PDE6C (T149M)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 880177	NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser)	PDE6C (P156S)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 167441	NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu)	PDE6C (D157E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 301621	NM_006204.4(PDE6C):c.503T>A (p.Met168Lys)	PDE6C (M168K)	Single nucleotide variant (missense variant)	Achromatopsia +1 more	GUncertain significance
Select item 877399	NM_006204.4(PDE6C):c.537G>T (p.Leu179=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 301622	NM_006204.4(PDE6C):c.542C>T (p.Ala181Val)	PDE6C (A181V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 877400	NM_006204.4(PDE6C):c.558G>A (p.Val186=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 301623	NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg)	PDE6C (Q208R)	Single nucleotide variant (missense variant)	Achromatopsia +3 more	GUncertain significance
Select item 878419	NM_006204.4(PDE6C):c.669C>T (p.Ile223=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +1 more	GUncertain significance
Select item 301624	NM_006204.4(PDE6C):c.724-15G>T	PDE6C	Single nucleotide variant (intron variant)	Achromatopsia +2 more	GBenign/Likely benign
Select item 197268	NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp)	PDE6C (N248D)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 879010	NM_006204.4(PDE6C):c.792G>A (p.Ala264=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 259947	NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr)	PDE6C (S270T)	Single nucleotide variant (missense variant)	Achromatopsia +3 more	GBenign
Select item 301625	NM_006204.4(PDE6C):c.864+13C>T	PDE6C	Single nucleotide variant (intron variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 879011	NM_006204.4(PDE6C):c.873C>T (p.Tyr291=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 301626	NM_006204.4(PDE6C):c.939+4C>T	PDE6C	Single nucleotide variant (intron variant)	Achromatopsia +2 more	GUncertain significance
Select item 301627	NM_006204.4(PDE6C):c.939+9A>G	PDE6C	Single nucleotide variant (intron variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 301628	NM_006204.4(PDE6C):c.986A>C (p.Glu329Ala)	PDE6C (E329A)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GUncertain significance
Select item 301629	NM_006204.4(PDE6C):c.1004C>A (p.Pro335Gln)	PDE6C (P335Q)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +2 more	GUncertain significance
Select item 301630	NM_006204.4(PDE6C):c.1072-8C>T	PDE6C	Single nucleotide variant (intron variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 259938	NM_006204.4(PDE6C):c.1098G>A (p.Ala366=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +3 more	GBenign
Select item 301631	NM_006204.4(PDE6C):c.1104A>G (p.Glu368=)	PDE6C	Single nucleotide variant (synonymous variant)	Cone dystrophy 4 +3 more	GConflicting classifications of pathogenicity
Select item 877458	NM_006204.4(PDE6C):c.1120-6T>C	PDE6C	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259941	NM_006204.4(PDE6C):c.1270-9C>T	PDE6C	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 259940	NM_006204.4(PDE6C):c.1270-7A>G	PDE6C	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 878481	NM_006204.4(PDE6C):c.1307C>G (p.Thr436Ser)	PDE6C (T436S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 879064	NM_006204.4(PDE6C):c.1308T>G (p.Thr436=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 2572553	NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)	PDE6C (E446*)	Single nucleotide variant (nonsense)	Cone dystrophy 4	GPathogenic/Likely pathogenic
Select item 259942	NM_006204.4(PDE6C):c.1380C>G (p.Thr460=)	PDE6C	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 301632	NM_006204.4(PDE6C):c.1482+9T>C	PDE6C	Single nucleotide variant (intron variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 301633	NM_006204.4(PDE6C):c.1505G>A (p.Arg502His)	PDE6C (R502H)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GUncertain significance
Select item 880284	NM_006204.4(PDE6C):c.1557C>T (p.His519=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 301634	NM_006204.4(PDE6C):c.1580G>A (p.Arg527Gln)	PDE6C (R527Q)	Single nucleotide variant (missense variant)	Achromatopsia +3 more	GUncertain significance
Select item 880285	NM_006204.4(PDE6C):c.1629G>T (p.Glu543Asp)	PDE6C (E543D)	Single nucleotide variant (missense variant)	Achromatopsia +1 more	GUncertain significance
Select item 877502	NM_006204.4(PDE6C):c.1630-4T>C	PDE6C	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522317	NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)	PDE6C (K585N)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 301635	NM_006204.4(PDE6C):c.1935+4C>T	PDE6C	Single nucleotide variant (intron variant)	Achromatopsia +2 more	GUncertain significance
Select item 259943	NM_006204.4(PDE6C):c.1935+10C>A	PDE6C	Single nucleotide variant (intron variant)	Achromatopsia +3 more	GBenign
Select item 877503	NM_006204.4(PDE6C):c.1935+13C>T	PDE6C	Single nucleotide variant (intron variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 285270	NM_006204.4(PDE6C):c.1936-9A>G	PDE6C	Single nucleotide variant (intron variant)	Achromatopsia +3 more	GBenign/Likely benign
Select item 301636	NM_006204.4(PDE6C):c.2037-13G>C	PDE6C	Single nucleotide variant (intron variant)	Achromatopsia +1 more	GUncertain significance
Select item 194755	NM_006204.4(PDE6C):c.2037-7T>C	PDE6C	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95345	NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile)	PDE6C (M694I)	Single nucleotide variant (missense variant)	Achromatopsia +3 more	GConflicting classifications of pathogenicity
Select item 879113	NM_006204.4(PDE6C):c.2087C>T (p.Thr696Met)	PDE6C (T696M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 301637	NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala)	PDE6C (E699A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 301638	NM_006204.4(PDE6C):c.2144+15T>C	PDE6C	Single nucleotide variant (intron variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 301639	NM_006204.4(PDE6C):c.2190C>G (p.Pro730=)	PDE6C	Single nucleotide variant (synonymous variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 301640	NM_006204.4(PDE6C):c.2208+13_2208+17del	PDE6C	Deletion (intron variant)	Cone-Rod Dystrophy, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 301641	NM_006204.4(PDE6C):c.2208+14A>C	PDE6C	Single nucleotide variant (intron variant)	Achromatopsia +2 more	GBenign/Likely benign
Select item 880325	NM_006204.4(PDE6C):c.2269C>A (p.Gln757Lys)	PDE6C (Q757K)	Single nucleotide variant (missense variant)	Achromatopsia +1 more	GUncertain significance
Select item 880326	NM_006204.4(PDE6C):c.2304A>G (p.Lys768=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +1 more	GUncertain significance
Select item 877548	NM_006204.4(PDE6C):c.2367G>A (p.Lys789=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +1 more	GUncertain significance
Select item 877549	NM_006204.4(PDE6C):c.2386A>G (p.Lys796Glu)	PDE6C (K796E)	Single nucleotide variant (missense variant)	Achromatopsia +1 more	GUncertain significance
Select item 301642	NM_006204.4(PDE6C):c.2425A>C (p.Arg809=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 877550	NM_006204.4(PDE6C):c.2466G>C (p.Lys822Asn)	PDE6C (K822N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522318	NM_006204.4(PDE6C):c.2466G>A (p.Lys822=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 301643	NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp)	PDE6C (E827D)	Single nucleotide variant (missense variant)	Achromatopsia +1 more	GUncertain significance
Select item 259945	NM_006204.4(PDE6C):c.2501A>G (p.Glu834Gly)	PDE6C (E834G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 259946	NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg)	PDE6C (G835R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 301644	NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys)	PDE6C (E838K)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +2 more	GUncertain significance
Select item 301645	NM_006204.4(PDE6C):c.*26A>G	PDE6C	Single nucleotide variant (3 prime UTR variant)	Achromatopsia +1 more	GLikely benign
Select item 879169	NM_006204.4(PDE6C):c.*64A>C	PDE6C	Single nucleotide variant (3 prime UTR variant)	Achromatopsia +1 more	GUncertain significance
Select item 301646	NM_006204.4(PDE6C):c.*87C>T	PDE6C	Single nucleotide variant (3 prime UTR variant)	Achromatopsia +1 more	GUncertain significance
Select item 301647	NM_006204.4(PDE6C):c.*209T>C	PDE6C	Single nucleotide variant (3 prime UTR variant)	Achromatopsia +1 more	GLikely benign
Select item 301648	NM_006204.4(PDE6C):c.*235A>T	PDE6C	Single nucleotide variant (3 prime UTR variant)	Cone dystrophy 4 +1 more	GUncertain significance
Select item 301649	NM_006204.4(PDE6C):c.*247A>C	PDE6C	Single nucleotide variant (3 prime UTR variant)	Achromatopsia +1 more	GUncertain significance

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Items: 79