All variants in the PDE4D gene

Information The variants shown are described using the transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.10A>G r.(?) p.(Asn4Asp) - - - - likely benign g.59481416T>C g.60185589T>C PDE4D(NM_001165899.1):c.10A>G (p.N4D) - PDE4D_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.272+95201C>T r.(=) p.(=) - - - - VUS g.59189114G>A g.59893287G>A PDE4D(NM_001104631.1):c.336C>T (p.(=)) - PDE4D_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.272+95258C>T r.(=) p.(=) - - - - likely benign g.59189057G>A g.59893230G>A PDE4D(NM_001104631.2):c.393C>T (p.G131=) - PDE4D_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.272+95267C>T r.(=) p.(=) - - - - likely benign g.59189048G>A g.59893221G>A PDE4D(NM_001104631.2):c.402C>T (p.P134=) - PDE4D_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.272+95288G>A r.(=) p.(=) - - - - likely benign g.59189027C>T - PDE4D(NM_001104631.1):c.423G>A (p.(Met141Ile)) - PDE4D_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.272+220089T>C r.(=) p.(=) - - - - likely benign g.59064226A>G - PDE4D(NM_001197218.1):c.110T>C (p.(Leu37Pro)) - PDE4D_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.273-214396C>T r.(=) p.(=) - - - - VUS g.58726190G>A - PDE4D(NM_001349242.1):c.55C>T (p.R19*) - PDE4D_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.273-140846G>A r.(=) p.(=) - - - - likely benign g.58652640C>T g.59356814C>T PDE4D(NM_001197219.1):c.33G>A (p.T11=) - PDE4D_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.273-140809C>T r.(=) p.(=) - - - - VUS g.58652603G>A g.59356777G>A PDE4D(NM_001197219.1):c.70C>T (p.R24C) - PDE4D_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 c.385T>C r.(?) p.(Ser129Pro) - - - ACMG VUS (!) g.58511682A>G - - - PDE4D_000059 ACMG codes: PM2, PM5_sup (p.Ser129Ala deemed path); PP2 (gnomAD missense z-score >3), PP3 (MetaSVM score): class 3 - - - Germline ? - - - - Andreas Laner
+?/. 4 c.385T>G r.(?) p.(Ser129Ala) - - - - likely pathogenic g.58511682A>C g.59215856A>C NM_001104631.1:c.568T>G - PDE4D_000004 - PubMed: Michot 2012 - - Germline - - MnlI+; PleI- 0 - Johan den Dunnen
+/. 4 c.386C>T r.(?) p.(Ser129Phe) - - - - pathogenic g.58511681G>A g.59215855G>A - - PDE4D_000029 - NOT PUBLISHED - - Germline yes - - 0 - Caroline Silve
+/. 4 c.386C>T r.(?) p.(Ser129Phe) - - - - pathogenic g.58511681G>A g.59215855G>A - - PDE4D_000029 - NOT PUBLISHED - - Germline/De novo (untested) yes - - 0 - Caroline Silve
+?/. - c.392T>C r.(?) p.(Leu131Pro) - - - - likely pathogenic g.58511675A>G - - - PDE4D_000058 - - - - Unknown - - - 0 - IMGAG
+?/+ 5 c.488C>T r.(?) p.(Thr163Ile) - - - - likely pathogenic g.58489339G>A g.59193513G>A - - PDE4D_000018 - PubMed: Mitsui et al.2014 - - Not applicable - - - 0 - Francesca Marta Elli
+?/+? 5 c.488C>T r.(?) p.(Thr163Ile) - - - - likely pathogenic g.58489339G>A g.59193513G>A T224I - PDE4D_000018 - PubMed: Mitsui et al. 2014 - - Not applicable - - - 0 - Francesca Marta Elli
+?/. 5 c.490C>A r.(?) p.(Pro164Thr) - - - - likely pathogenic g.58489337G>T g.59193511G>T NM_001104631.1:c.673C>A - PDE4D_000001 - PubMed: Michot 2012 - - Germline - - MlyI- 0 - Johan den Dunnen
+?/. 5 c.490C>T r.(?) p.(Pro164Ser) - - - - likely pathogenic g.58489337G>A g.59193511G>A - - PDE4D_000031 - NOT PUBLISHED - - Germline/De novo (untested) - - - 0 - Caroline Silve
+?/. 5 c.491C>T r.(?) p.(Pro164Leu) - - - - likely pathogenic g.58489336G>A g.59193510G>A - - PDE4D_000013 de novo, in patient PubMed: Lynch 2013, Journal: Lynch 2013 - - De novo - - - 0 - Danielle Lynch
+?/+? 5 c.493T>G r.(?) p.(Phe165Val) - - - - likely pathogenic g.58489334A>C g.59193508A>C - - PDE4D_000020 - PubMed: Lindstrand et al.2014 - - Not applicable ? - - 0 - Francesca Marta Elli
+?/. 5 c.494T>C r.(?) p.(Phe165Ser) - - - - likely pathogenic g.58489333A>G g.59193507A>G NM_001104631.1:c.677T>C - PDE4D_000003 - PubMed: Michot 2012 - - Germline - - BccI+ 0 - Johan den Dunnen
+?/+? 5 c.494T>G r.(?) p.(Phe165Cys) - - - - likely pathogenic g.58489333A>C g.59193507A>C - - PDE4D_000021 - PubMed: Lindstrand et al.2014 - - Not applicable ? - - 0 - Francesca Marta Elli
+?/+? 5 c.496G>T r.(?) p.(Ala166Ser) - - - - likely pathogenic g.58489331C>A g.59193505C>A - - PDE4D_000023 - PubMed: Linglart et al.2012 - - Not applicable ? - - 0 - Francesca Marta Elli
+?/. 5 c.499C>G r.(?) p.(Gln167Glu) - - - - likely pathogenic g.58489328G>C g.59193502G>C NM_001104631.1:c.682C>G; Gln228Glu - PDE4D_000006 - PubMed: Lee 2012 - - Germline - - MnlI+ 0 - Johan den Dunnen
+?/+? 5 c.500A>C r.(?) p.(Gln167Pro) - - - - likely pathogenic g.58489327T>G g.59193501T>G - - PDE4D_000024 - PubMed: Kaname et al.2014 - - Germline yes - - 0 - Francesca Marta Elli
+?/+? 6 c.506T>C r.(?) p.(Leu169Ser) - - - - likely pathogenic g.58481084A>G g.59185258A>G - - PDE4D_000025 - PubMed: Kaname et al.2014 - - Not applicable ? - - 0 - Francesca Marta Elli
+/. - c.506T>C r.(?) p.(Leu169Ser) - - - - pathogenic g.58481084A>G g.59185258A>G - - PDE4D_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.526C>T r.(?) p.(Arg176*) - - - - VUS g.58481064G>A - - - PDE4D_000063 - PubMed: Goodman 2021, Journal: Goodman 2021 - - De novo - - - 0 - Johan den Dunnen
?/. - c.625+23265T>C r.(=) p.(=) - - - - VUS g.58453156A>G - PDE4D(NM_001364602.1):c.650T>C (p.L217P) - PDE4D_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.626-124C>A r.(=) p.(=) - - - - likely benign g.58334922G>T g.59039095G>T - - PDE4D_000051 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16889108 Germline - 9/2787 individuals - 0 - Mohammed Faruq
-?/. - c.626-24C>T r.(=) p.(=) - - - - likely benign g.58334822G>A g.59038995G>A PDE4D(NM_001197222.1):c.113C>T (p.S38F, p.(Ser38Phe)) - PDE4D_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.626-24C>T r.(=) p.(=) - - - - VUS g.58334822G>A - PDE4D(NM_001197222.1):c.113C>T (p.S38F, p.(Ser38Phe)) - PDE4D_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.626-22C>T r.(=) p.(=) - - - - VUS g.58334820G>A - PDE4D(NM_001197222.1):c.115C>T (p.P39S) - PDE4D_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.708G>A r.(?) p.(Arg236=) - - - - likely benign g.58334716C>T - PDE4D(NM_001364604.1):c.123G>A (p.R41=) - PDE4D_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 8 c.719G>A r.(?) p.(Ser240Asn) - - - - likely pathogenic g.58334705C>T g.59038878C>T - - PDE4D_000030 - NOT PUBLISHED - - De novo - - - 0 - Caroline Silve
+/+ 8 c.719G>A r.(?) p.(Ser240Asn) - - - - pathogenic g.58334705C>T g.59038878C>T - - PDE4D_000030 - NOT PUBLISHED - - Germline/De novo (untested) - - - 0 - Arrate Pereda
+?/. 8 c.719G>C r.(?) p.(Ser240Thr) - - - - likely pathogenic g.58334705C>G g.59038878C>G - - PDE4D_000012 de novo, in patient PubMed: Lynch 2013, Journal: Lynch 2013 - - De novo - - - 0 - Danielle Lynch
+?/+? 8 c.724A>G r.(?) p.(Met242Val) - - - - likely pathogenic g.58334700T>C g.59038873T>C - - PDE4D_000022 - {PMID:continuato dalle 9 alle 14} - - Not applicable ? - - 0 - Francesca Marta Elli
+?/. 8 c.728C>T r.(?) p.(Ala243Val) - - - - likely pathogenic g.58334696G>A g.59038869G>A - - PDE4D_000009 - PubMed: Lynch 2013, Journal: Lynch 2013 - - Germline - - - 0 - Danielle Lynch
+?/. 9 c.751C>G r.(?) p.(Leu251Val) - - - - likely pathogenic g.58289280G>C g.58993453G>C - - PDE4D_000032 - NOT PUBLISHED - - De novo - - - 0 - Arrate Pereda
?/. - c.800A>C r.(?) p.(Gln267Pro) - - - - VUS g.58289231T>G g.58993404T>G PDE4D(NM_001197220.1):c.593A>C (p.Q198P) - PDE4D_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 9 c.803T>C r.(?) p.(Val268Ala) - - - - likely pathogenic g.58289228A>G g.58993401A>G - - PDE4D_000011 de novo, in patient PubMed: Lynch 2013, Journal: Lynch 2013 - - De novo - - - 0 - Danielle Lynch
+?/+? 9 c.803T>C r.(?) p.(Val268Ala) - - - - likely pathogenic g.58289228A>G g.58993401A>G - - PDE4D_000011 - PubMed: Lindstrand et al.2014 - - Not applicable ? - - 0 - Francesca Marta Elli
+?/+? 9 c.815T>C r.(?) p.(Ile272Thr) - - - - likely pathogenic g.58289216A>G g.58993389A>G - - PDE4D_000019 - PubMed: Mitsui et al.2014 - - Not applicable ? - - 0 - Francesca Marta Elli
?/. - c.826_831del r.(?) p.(Phe276_Leu277del) - - - - VUS g.58289201_58289206del - - - PDE4D_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1006-9del r.(=) p.(=) - - - - benign g.58286750del g.58990923del PDE4D(NM_001197220.1):c.799-9delT - PDE4D_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1006-9dup r.(=) p.(=) - - - - likely benign g.58286750dup g.58990923dup PDE4D(NM_001197220.1):c.799-9dupT - PDE4D_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1023C>G r.(?) p.(Asn341Lys) - - - - VUS g.58286712G>C g.58990885G>C - - PDE4D_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1067A>G r.(?) p.(Asn356Ser) - - - - VUS g.58286668T>C g.58990841T>C PDE4D(NM_001364604.1):c.482A>G (p.N161S) - PDE4D_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1104+6G>A r.(=) p.(=) - - - - benign g.58286625C>T g.58990798C>T PDE4D(NM_001197220.2):c.897+6G>A - PDE4D_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1170C>T r.(?) p.(Leu390=) - - - - likely benign g.58285681G>A - PDE4D(NM_001364604.1):c.585C>T (p.L195=) - PDE4D_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1269+8T>C r.(=) p.(=) - - - - likely benign g.58285574A>G g.58989747A>G PDE4D(NM_001104631.1):c.1452+8T>C (p.(=)) - PDE4D_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 13 c.1279A>C r.(?) p.(Thr427Pro) - - - - likely pathogenic g.58284410T>G g.58988583T>G - - PDE4D_000015 - PubMed: Elli et al.2016 - - Not applicable ? - - 0 - Francesca Marta Elli
-/. - c.1509A>G r.(?) p.(Lys503=) - - - - benign g.58273033T>C g.58977206T>C PDE4D(NM_001197220.1):c.1302A>G (p.K434=) - PDE4D_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 14 c.1522A>T r.(?) p.(Ile508Phe) - - - - pathogenic g.58273020T>A g.58977193T>A - - PDE4D_000027 - NOT PUBLISHED - - De novo yes - - 0 - Caroline Silve
+/. 14 c.1522A>T r.(?) p.(Ile508Phe) - - - - pathogenic g.58273020T>A g.58977193T>A - - PDE4D_000027 - NOT PUBLISHED - - Germline yes - - 0 - Caroline Silve
+?/. 15 c.1576A>C r.(?) p.(Thr526Pro) - - - - likely pathogenic g.58272248T>G g.58976421T>G NM_001104631.1:c.1759A>C - PDE4D_000005 - PubMed: Michot 2012 - - Germline - - CviKI_1+; BbsI- 0 - Johan den Dunnen
+?/+? 15 c.1576A>G r.(?) p.(Thr526Ala) - - - - likely pathogenic g.58272248T>C g.58976421T>C - - PDE4D_000026 - PubMed: Kaname et al.2014 - - Not applicable ? - - 0 - Francesca Marta Elli
+?/. 15 c.1586A>C r.(?) p.(Glu529Ala) - - - - likely pathogenic g.58272238T>G g.58976411T>G NM_001104631.1:c.1769A>C; Glu590Ala - PDE4D_000007 - PubMed: Lee 2012 - - Germline - - HpyCH4V+ 0 - Johan den Dunnen
+?/+? 15 c.1586A>C r.(?) p.(Glu529Ala) - - - - likely pathogenic g.58272238T>G g.58976411T>G - - PDE4D_000007 - PubMed: Linglart et al.2012 - - Not applicable ? - - 0 - Francesca Marta Elli
+?/+? 15 c.1600A>C r.(?) p.(Thr534Pro) - - - - likely pathogenic g.58272224T>G g.58976397T>G - - PDE4D_000016 - PubMed: Elli et al.2016 - - Not applicable ? - - 0 - Francesca Marta Elli
?/. - c.1621_1623del r.(?) p.(Leu541del) - - - - VUS g.58272209_58272211del - PDE4D(NM_001104631.1):c.1804_1806del (p.(Leu602del)) - PDE4D_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 16 c.1666C>T r.(?) p.(His556Tyr) - - - - likely pathogenic g.58271648G>A g.58975821G>A - - PDE4D_000017 - PubMed: Elli et al.2016 - - De novo - - - 0 - Francesca Marta Elli
+?/. 17 c.1835G>A r.(?) p.(Gly612Asp) - - - - likely pathogenic g.58270903C>T g.58975076C>T NM_001104631.1:c.2018G>A; Gly673Asp - PDE4D_000008 - PubMed: Lee 2012 - - Germline - - Hpy166II+ 0 - Johan den Dunnen
+?/+? 17 c.1835G>A r.(?) p.(Gly612Asp) - - - - likely pathogenic g.58270903C>T g.58975076C>T - - PDE4D_000008 - PubMed: Kaname et al.2014 - - Not applicable ? - - 0 - Francesca Marta Elli
+?/. 17 c.1850T>C r.(=) p.(Ile617Thr) - - - - likely pathogenic g.58270888A>G g.58975061A>G - - PDE4D_000010 de novo, in patient PubMed: Lynch 2013, Journal: Lynch 2013 - - De novo - - - 0 - Danielle Lynch
+?/+? 17 c.1850T>C r.(?) p.(Ile617Thr) - - - - likely pathogenic g.58270888A>G g.58975061A>G - - PDE4D_000010 - PubMed: Lindstrand et al.2014 - - Not applicable ? - - 0 - Francesca Marta Elli
+?/+? 17 c.1850T>C r.(?) p.(Ile617Thr) - - - - likely pathogenic g.58270888A>G g.58975061A>G - - PDE4D_000010 - PubMed: Kaname et al.2014 - - Germline yes - - 0 - Francesca Marta Elli
-?/. - c.1950A>C r.(?) p.(Thr650=) - - - - likely benign g.58270788T>G - PDE4D(NM_001364604.1):c.1365A>C (p.T455=) - PDE4D_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 17 c.2047G>T r.(?) p.(Gly683Cys) - - - - likely pathogenic g.58270691C>A g.58974864C>A - - PDE4D_000014 - PubMed: Elli et al.2016 - - Germline yes - - 0 - Francesca Marta Elli
?/. - c.2062G>T r.(?) p.(Glu688Ter) - - - - VUS g.58270676C>A g.58974849C>A - - PDE4D_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 17 c.2069A>G r.(?) p.(Asp690Gly) - - - - likely pathogenic g.58270669T>C g.58974842T>C - - PDE4D_000028 - NOT PUBLISHED - - Germline/De novo (untested) - - - 0 - Caroline Silve
-?/. - c.2119C>G r.(?) p.(Leu707Val) - - - - likely benign g.58270619G>C g.58974792G>C PDE4D(NM_001104631.1):c.2302C>G (p.(Leu768Val)) - PDE4D_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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