Full data view for gene PRKAR1A

Information The variants shown are described using the NM_002734.4 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
?/. - c.-92192T>C r.(?) p.(=) Unknown - VUS g.66416504T>C - ARSG(NM_014960.4):c.1478T>C (p.I493T) - SLC16A6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.-176_-7+265{0} r.0? p.0? Unknown ACMG pathogenic g.66498293_66508954del g.68502152_68512813del c.-10403_-7+265del - PRKAR1A_000030 - - - - Germline yes - - - - DNA, RNA MLPA, PCR, PCRm, RT-PCR, SEQ, SEQ-NG-I - - Carney complex - - - F no Hungary - - - - - 1 Anikó Bozsik
?/. - c.71A>G r.(?) p.(Lys24Arg) Unknown - VUS g.66511611A>G - - - FAM20A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.87G>A r.(?) p.(Ala29=) Unknown - benign g.66511627G>A g.68515486G>A PRKAR1A(NM_001276289.1):c.87G>A (p.(Ala29=)), PRKAR1A(NM_002734.5):c.87G>A (p.A29=) - PRKAR1A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.87G>A r.(?) p.(Ala29=) Unknown - benign g.66511627G>A - PRKAR1A(NM_001276289.1):c.87G>A (p.(Ala29=)), PRKAR1A(NM_002734.5):c.87G>A (p.A29=) - PRKAR1A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103A>G r.(?) p.(Ile35Val) Unknown - likely benign g.66511643A>G - PRKAR1A(NM_002734.5):c.103A>G (p.I35V) - FAM20A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139A>G r.(?) p.(Met47Val) Unknown - VUS g.66511679A>G - PRKAR1A(NM_002734.5):c.139A>G (p.M47V) - FAM20A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.177+7A>G r.(=) p.(=) Unknown - VUS g.66511724A>G - PRKAR1A(NM_001369389.1):c.177+7A>G - FAM20A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177+30T>G r.(=) p.(=) Unknown - likely benign g.66511747T>G - PRKAR1A(NM_002734.5):c.177+30T>G - FAM20A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183G>A r.(?) p.(=) Unknown - likely benign g.66518902G>A - PRKAR1A(NM_001369389.1):c.183G>A (p.E61=) - FAM20A_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A r.(?) p.(=) Unknown - likely benign g.66518923G>A - PRKAR1A(NM_002734.5):c.204G>A (p.L68=) - FAM20A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.221G>A r.(?) p.(Arg74His) Unknown - likely benign g.66518940G>A g.68522799G>A PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H) - PRKAR1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.221G>A r.(?) p.(Arg74His) Unknown - likely benign g.66518940G>A - PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H) - PRKAR1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.221G>A r.(?) p.(Arg74His) Unknown - likely benign g.66518940G>A - PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H) - PRKAR1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348+23G>A r.(=) p.(=) Unknown - likely benign g.66519090G>A - PRKAR1A(NM_002734.5):c.348+23G>A - FAM20A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.349-5dup r.spl? p.? Unknown - benign g.66519861dup g.68523720dup PRKAR1A(NM_212471.3):c.349-4delCinsTC, PRKAR1A(NM_212471.3):c.349-5dupT - PRKAR1A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381T>C r.(?) p.(=) Unknown - likely benign g.66519898T>C - PRKAR1A(NM_001369389.1):c.381T>C (p.A127=) - FAM20A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.440+15T>C r.(=) p.(=) Unknown - benign g.66519972T>C g.68523831T>C PRKAR1A(NM_212471.2):c.440+15T>C - PRKAR1A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441-45G>A r.(=) p.(=) Unknown - benign g.66520112G>A - PRKAR1A(NM_212471.2):c.441-45G>A - FAM20A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489T>C r.(?) p.(=) Unknown - likely benign g.66520205T>C - PRKAR1A(NM_001369389.1):c.489T>C (p.T163=) - FAM20A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.491_492del r.(491_492del) p.(Val164Aspfs*5) Parent #1 - pathogenic g.66520207_66520208del g.68524066_68524067del - - PRKAR1A_000001 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.503-2A>T r.spl p.? Parent #1 - pathogenic g.66521051A>T g.68524910A>T - - PRKAR1A_000002 - - - - Germline - - - - - DNA SEQ - - CNC1 - - - - - Germany - - - - - 1 Andreas Laner
+?/. 6 c.507_509del r.(?) p.(Asp169del) Parent #1 - likely pathogenic g.66521057_66521059del g.68524916_68524918del - - PRKAR1A_000023 - NOT PUBLISHED - - Germline/De novo (untested) - - - - - DNA SEQ-NG peripheral blood - ACRDYS1 - NOT PUBLISHED - F - (France) - - - - - 1 Caroline Silve
+?/. - c.524A>G r.(?) p.(Tyr175Cys) Unknown - likely pathogenic g.66521074A>G - PRKAR1A(NM_002734.5):c.524A>G (p.Y175C) - PRKAR1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.545C>T r.(?) p.(Thr182Met) Unknown - VUS g.66521095C>T - PRKAR1A(NM_002734.5):c.545C>T (p.(Thr182Met)) - FAM20A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.550-18A>G r.(=) p.(=) Unknown - benign g.66521877A>G g.68525736A>G PRKAR1A(NM_002734.5):c.550-18A>G - PRKAR1A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.554A>G r.(?) p.(Tyr185Cys) Unknown - VUS g.66521899A>G - - - FAM20A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.622G>A r.(?) p.(Gly208Arg) Parent #1 - likely pathogenic g.66521967G>A g.68525826G>A - - PRKAR1A_000021 - NOT PUBLISHED - - Germline/De novo (untested) - - - - - DNA SEQ-NG peripheral blood - ACRDYS1 - NOT PUBLISHED - F - (France) - - - - - 1 Caroline Silve
+?/+? 7 c.625A>G r.(?) p.(Thr209Ala) Maternal (confirmed) - likely pathogenic g.66521970A>G g.68525829A>G - - PRKAR1A_000004 - PubMed: Elli et al. 2016 - - Germline ? - - - - DNA SEQ blood - ACRDYS1 - PubMed: Elli et al.2016 - F no (Bosnia and Herzegovina) - - - - - 1 Francesca Marta Elli
+?/+? 7 c.637G>A r.(637g>a) p.(Ala213Thr) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 7 c.679G>A r.(679g>a) p.(Asp227Asn) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood, - autism, BDE1, BMD/DMD, DFNB;ARNSHL - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 8 c.715A>G r.(715a>g) p.(Thr239Ala) Unknown - pathogenic (recessive) g.21889760G>A g.21563267G>A - - ALPL_000002 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.725A>C r.(?) p.(Lys242Thr) Unknown - VUS g.66523997A>C - PRKAR1A(NM_212471.2):c.725A>C (p.K242T) - FAM20A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770-9G>T r.(=) p.(=) Unknown - likely benign g.66525002G>T - PRKAR1A(NM_001369389.1):c.770-9G>T - FAM20A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 9 c.806A>G r.(806a>g) p.(Asp269Gly) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 9 c.854A>G r.(854a>g) p.(Gln285Arg) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/-? 9 c.866G>A r.(?) p.(Gly289Glu) Unknown - likely pathogenic g.66525107G>A g.68528966G>A - - PRKAR1A_000013 - PubMed: Li et al. 2014 - - De novo ? - - - - DNA SEQ blood - ACRDYS1 - PubMed: Li et al.2014 - F no (China) - - - - - 1 Francesca Marta Elli
+?/+? 9 c.866G>A r.(866g>a) p.(Gly289Glu) Unknown - likely pathogenic g.66525107G>A g.68528966G>A - - PRKAR1A_000013 - PubMed: Linglart et al. 2012 - - Germline ? - - - - DNA SEQ blood - ACRDYS1 - PubMed: Linglart et al.2012 - M ? - - - - - - 1 Francesca Marta Elli
+?/. - c.868dup r.(?) p.(Asp290GlyfsTer2) Unknown - likely pathogenic g.66525109dup g.68528968dup - - PRKAR1A_000031 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC Pat9 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - 1 Johan den Dunnen
+?/+? 9 c.879C>G r.(879c>g) p.(Phe293Leu) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.964G>T r.(?) p.(Asp322Tyr) Unknown - VUS g.66526133G>T - - - FAM20A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? - c.980T>C r.(?) p.(Ile327Thr) Unknown - likely pathogenic g.66526424T>C - - - PRKAR1A_000015 - PubMed: Lee et al. 2012 - - Germline ? - - - - DNA SEQ blood - ACRDYS1 - PubMed: Lee et al.2012 - M ? - - - - - - 1 Francesca Marta Elli
+?/+? 11 c.983C>T r.(?) p.(Ala328Val) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1003C>T r.(1003c>u) p.(Arg335Cys) Unknown - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - - - DNA SEQ-NG, SEQ , blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1004G>C r.(1004g>c) p.(Arg335Pro) Unknown - likely pathogenic g.66526448G>C g.68530307G>C - - PRKAR1A_000016 - PubMed: Lee et al. 2012 - - Germline ? - - - - DNA SEQ blood - ACRDYS1 - PubMed: Lee et al.2012 - M ? - - - - - - 1 Francesca Marta Elli
+?/+? 11 c.1004G>T r.(1004g>u) p.(Arg335Leu) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1029C>T r.(?) p.(Gly343=) Unknown - likely benign g.66526473C>T - PRKAR1A(NM_001369389.1):c.1029C>T (p.G343=), PRKAR1A(NM_212471.2):c.1029C>T (p.G343=) - FAM20A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1029C>T r.(?) p.(Gly343=) Unknown - likely benign g.66526473C>T - PRKAR1A(NM_001369389.1):c.1029C>T (p.G343=), PRKAR1A(NM_212471.2):c.1029C>T (p.G343=) - FAM20A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 11 c.1102C>T r.(1102c>u) p.(Arg368*) Unknown - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1102C>T r.(?) p.(Arg368*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1102C>T r.(?) p.(Arg368*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1102C>T r.(?) p.(Arg368*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1102C>T r.(?) p.(Arg368*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ , blood - ?, ACRDYS1 NA04364 PubMed: Bell 2011 - M - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1102C>T r.(?) p.(Arg368*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1102C>T r.(?) p.(Arg368*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, epilepsy - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1102C>T r.(?) p.(Arg368*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1102C>T r.(?) p.(Arg368*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, ADPKD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 11 c.1102C>T r.(?) p.(Arg368*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ peripheral blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1102C>T r.(1102c>u) p.(Arg368*) Unknown - likely pathogenic g.66526546C>T g.68530405C>T - - PRKAR1A_000010 - PubMed: Muhn et al. 2013 - - De novo ? - - - - DNA SEQ blood - ACRDYS1 - PubMed: Muhn et al.2013 - F ? - - - - - - 1 Francesca Marta Elli
+?/+? 11 c.1102C>T r.(1102c>u) p.(Arg368*) Unknown - likely pathogenic g.66526546C>T g.68530405C>T - - PRKAR1A_000010 - PubMed: Michot et al. 2012 - - Germline ? - - - - DNA SEQ blood - ACRDYS1 - PubMed: Michot et al - F ? - - - - - - 1 Francesca Marta Elli
+/+ 11 c.1102C>T r.(?) p.(Arg368*) Unknown - likely pathogenic g.66526546C>T g.68530405C>T - - PRKAR1A_000010 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACRDYS1 1 - - F no Brazil - >13y - - - 1 Karina Silveira
+?/. - c.1102C>T r.(?) p.(Arg368Ter) Unknown - likely pathogenic g.66526546C>T g.68530405C>T PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter)) - PRKAR1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1102C>T r.(?) p.(Arg368Ter) Unknown - pathogenic g.66526546C>T - PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter)) - PRKAR1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1102C>T r.(?) p.(Arg368*) Unknown - likely pathogenic g.66526546C>T g.68530405C>T PRKAR1A;NM_002734.4;c.[1102C>T];[1102=]p.[(Arg368*)];[(Arg368=)]; - PRKAR1A_000010 heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 70 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 11 c.1111C>T r.(?) p.(Gln371*) Maternal (confirmed) - pathogenic g.66526555C>T g.68530414C>T - - PRKAR1A_000022 - NOT PUBLISHED - - Germline yes - - - - DNA SEQ-NG peripheral blood - ACRDYS2 - NOT PUBLISHED 2-generation family, 2 affecteds, (children and mother) M - (France) - - - - - 2 Caroline Silve
+/. 11 c.1111C>T r.(?) p.(Gln371*) Parent #1 - pathogenic g.66526555C>T g.68530414C>T - - PRKAR1A_000022 - NOT PUBLISHED - - Germline/De novo (untested) yes - - - - DNA SEQ-NG peripheral blood - ACRDYS1 - NOT PUBLISHED - F - (France) - - - - - 1 Caroline Silve
+?/+? 11 c.1114C>T r.(1114c>u) p.(Gln372*) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 11 c.1117T>C r.(1117u>c) p.(Tyr373His) Unknown - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood, - ACRDYS1, arthrogryposis - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.*7065A>G r.(=) p.(=) Unknown - benign g.66533655A>G g.68537514A>G - - FAM20A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7143G>A r.(=) p.(=) Unknown - likely benign g.66533733G>A - FAM20A(NM_001243746.1):c.1097C>T (p.(Thr366Ile)) - FAM20A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8878G>T r.(=) p.(=) Unknown - likely benign g.66535468G>T - FAM20A(NM_017565.4):c.1361+10C>A - FAM20A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8935G>A r.(=) p.(=) Unknown - likely benign g.66535525G>A - FAM20A(NM_017565.4):c.1314C>T (p.H438=) - FAM20A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11533C>A r.(=) p.(=) Unknown - VUS g.66538123C>A g.68541982C>A FAM20A(NM_001243746.1):c.695+3G>T - FAM20A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11534_*11537del r.(=) p.(=) Unknown - VUS g.66538124_66538127del - FAM20A(NM_017565.4):c.1109+3_1109+6del - FAM20A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11563C>T r.(=) p.(=) Unknown - likely benign g.66538153C>T - FAM20A(NM_017565.4):c.1082G>A (p.(Arg361His)) - FAM20A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11633C>T r.(=) p.(=) Unknown - VUS g.66538223C>T - FAM20A(NM_017565.4):c.1012G>A (p.(Gly338Ser)) - FAM20A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11725_*11733del r.(=) p.(=) Unknown - likely benign g.66538315_66538323del - FAM20A(NM_017565.4):c.929-11_929-3del - FAM20A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*12362T>C r.(=) p.(=) Unknown - VUS g.66538952T>C - PRKAR1A(NM_001276290.1):c.974-8273T>C (p.?) - FAM20A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*20618G>A r.(=) p.(=) Unknown - likely benign g.66547208G>A - PRKAR1A(NM_001276290.1):c.974-17G>A - FAM20A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*20659G>A r.(=) p.(=) Unknown - likely benign g.66547249G>A - PRKAR1A(NM_001276290.1):c.998G>A (p.S333N) - FAM20A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20673T>G r.(=) p.(=) Unknown - VUS g.66547263T>G g.68551122T>G PRKAR1A(NM_001276290.1):c.1012T>G (p.*338Eext*7, p.(*338Gluext*7)) - FAM20A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20673T>G r.(=) p.(=) Unknown - VUS g.66547263T>G - PRKAR1A(NM_001276290.1):c.1012T>G (p.*338Eext*7, p.(*338Gluext*7)) - FAM20A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*25173G>C r.(=) p.(=) Unknown - VUS g.66551763G>C - FAM20A(NM_001243746.1):c.112C>G (p.(Arg38Gly)) - FAM20A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*25255G>A r.(=) p.(=) Unknown - likely benign g.66551845G>A - FAM20A(NM_017565.4):c.444C>T (p.S148=) - FAM20A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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