All variants in the FAM20A gene

Information The variants shown are described using the NM_017565.3 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 1 c.34_35del r.(?) p.(Leu12Alafs*67) - pathogenic g.66596775_66596776del g.68600634_68600635del 34_35delCT - FAM20A_000001 - PubMed: Cho 2012 - - Germline - - - - - JUNG-WOOK KIM
+/. - c.34_35del r.(?) p.(Leu12Alafs*67) - pathogenic (recessive) g.66596775_66596776del g.68600634_68600635del 34_35delCT - FAM20A_000001 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.34_35del r.(?) p.(Leu12Alafs*67) - pathogenic (recessive) g.66596775_66596776del g.68600634_68600635del 34_35delCT - FAM20A_000001 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.43_45dup r.(?) p.(Leu15dup) - likely benign g.66596772_66596774dup - FAM20A(NM_017565.4):c.43_45dup (p.(Leu15dup)), FAM20A(NM_017565.4):c.43_45dupCTG (p.L15dup) - FAM20A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.43_45dup r.(?) p.(Leu15dup) - VUS g.66596772_66596774dup - FAM20A(NM_017565.4):c.43_45dup (p.(Leu15dup)), FAM20A(NM_017565.4):c.43_45dupCTG (p.L15dup) - FAM20A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.83G>A r.(?) p.(Trp28*) - pathogenic g.66596725C>T - FAM20A(NM_017565.4):c.83G>A (p.W28*) - FAM20A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.217C>T r.(?) p.(Arg73*) - pathogenic (recessive) g.66596591G>A g.68600450G>A - - FAM20A_000020 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.290C>T r.(?) p.(Ala97Val) - likely benign g.66596518G>A g.68600377G>A FAM20A(NM_001243746.1):c.-351C>T (p.(=)) - FAM20A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.406C>T r.(?) p.(Arg136*) - pathogenic (recessive) g.66551883G>A g.68555742G>A - - FAM20A_000011 - PubMed: O'Sullivan 2011 - - Germline - - - - - Johan den Dunnen
+/. - c.406C>T r.(?) p.(Arg136*) - pathogenic (recessive) g.66551883G>A g.68555742G>A - - FAM20A_000011 - PubMed: O'Sullivan 2011 - - Germline - - - - - Johan den Dunnen
+/. - c.406C>T r.(?) p.(Arg136*) - pathogenic (recessive) g.66551883G>A g.68555742G>A - - FAM20A_000011 - PubMed: O'Sullivan 2011 - - Germline - - - - - Johan den Dunnen
+/. - c.406C>T r.(?) p.(Arg136*) - pathogenic (recessive) g.66551883G>A g.68555742G>A - - FAM20A_000011 - PubMed: O'Sullivan 2011 - - Germline - - - - - Johan den Dunnen
+/. - c.406C>T r.(?) p.(Arg136*) - pathogenic (recessive) g.66551883G>A g.68555742G>A g.50213C>G - FAM20A_000011 - PubMed: Wang 2013 - - Germline - - - - - Johan den Dunnen
+/. - c.406C>T r.(?) p.(Arg136*) - pathogenic (recessive) g.66551883G>A g.68555742G>A - - FAM20A_000011 - PubMed: Wang 2013 - - Germline yes - - - - Johan den Dunnen
+/. - c.406C>T r.(?) p.(Arg136*) - pathogenic (recessive) g.66551883G>A g.68555742G>A - - FAM20A_000011 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.444C>T r.(?) p.(Ser148=) - likely benign g.66551845G>A - FAM20A(NM_017565.4):c.444C>T (p.S148=) - FAM20A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.518T>G r.(?) p.(Leu173Arg) - pathogenic (recessive) g.66551771A>C g.68555630A>C - - FAM20A_000029 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
?/. - c.526C>G r.(?) p.(Arg176Gly) - VUS g.66551763G>C - FAM20A(NM_001243746.1):c.112C>G (p.(Arg38Gly)) - FAM20A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.589+1G>A r.spl p.? - pathogenic (recessive) g.66551699C>T g.68555558C>T IVS2+1G>A - FAM20A_000015 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+?/. - c.590-3_590-2delinsGA r.spl p.0? - likely pathogenic g.66550970_66550970delinsTC g.68554829_68554830delinsTC [590-2A>G;590-3C>A] - FAM20A_000036 - PubMed: Prasad 2016 - - Germline - - - - - Johan den Dunnen
+/. 3i c.590-2A>G r.spl? p.(?) - pathogenic g.66550970T>C g.68554829T>C - - FAM20A_000005 - PubMed: Cho 2012 - - Germline - - - - - JUNG-WOOK KIM
+/. - c.612del r.(?) p.(Leu205Cysfs*11) - pathogenic (recessive) g.66550947del g.68554806del 612delC - FAM20A_000023 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.(640+1_641-1)_(719+1_720-1)del r.? p.? - pathogenic (recessive) g.(66539863_66548013)_(66548093_66550917)del g.(68543722_68551872)_(68551952_68554776)del 641–719del79 - FAM20A_000022 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.719+1G>C r.spl p.? - pathogenic (recessive) g.66548013C>G g.68551872C>G IVS4+1G>C - FAM20A_000017 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
?/. - c.719+751A>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. - c.719+751A>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.719+765C>T r.(=) p.(=) - likely benign g.66547249G>A - PRKAR1A(NM_001276290.1):c.998G>A (p.S333N) - FAM20A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.719+806C>T r.(=) p.(=) - likely benign g.66547208G>A - PRKAR1A(NM_001276290.1):c.974-17G>A - FAM20A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.727C>T r.(?) p.(Arg243*) - pathogenic (recessive) g.66539855G>A g.68543714G>A - - FAM20A_000019 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.727C>T r.(?) p.(Arg243*) - pathogenic (recessive) g.66539855G>A g.68543714G>A - - FAM20A_000019 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.755_757del r.(?) p.(Phe252del) - pathogenic (recessive) g.66539830_66539832del g.68543689_68543691del 755_757delTCT - FAM20A_000021 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.812+2T>G r.spl p.? - pathogenic (recessive) g.66539768A>C g.68543627A>C IVS5+2T>G - FAM20A_000028 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. 6i c.813-2A>G r.spl? p.(?) - pathogenic g.66538952T>C g.68542811T>C - - FAM20A_000002 - PubMed: Cho 2012 - - Germline - - - - - JUNG-WOOK KIM
?/. - c.813-2A>G r.spl? p.? - VUS g.66538952T>C - PRKAR1A(NM_001276290.1):c.974-8273T>C (p.?) - FAM20A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 6 c.826C>T r.(?) p.(Arg276*) - pathogenic g.66538937G>A g.68542796G>A - - FAM20A_000004 - PubMed: Cho 2012 - - Germline - - - - - JUNG-WOOK KIM
+/. - c.907_908del r.(?) p.(Ser303Cysfs*76) - pathogenic (recessive) g.66538857_66538858del g.68542716_68542717del 907_908delAG - FAM20A_000027 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.913_914del r.(?) p.(Phe305Leufs*74) - pathogenic (recessive) g.66538851_66538852del g.68542710_68542711del 913_914delTT - FAM20A_000014 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.915_918del r.(?) p.(Phe305Leufs*76) - pathogenic (recessive) g.66538848_66538851del g.68542707_68542710del 915_918delCTTT - FAM20A_000013 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.929-11_929-3del r.spl? p.? - likely benign g.66538315_66538323del - FAM20A(NM_017565.4):c.929-11_929-3del - FAM20A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.992G>A r.(?) p.(Gly331Asp) - pathogenic (recessive) g.66538243C>T g.68542102C>T g.63853A>G - FAM20A_000010 - PubMed: Wang 2013 - - Germline yes - - - - Johan den Dunnen
?/. - c.1012G>A r.(?) p.(Gly338Ser) - VUS g.66538223C>T - FAM20A(NM_017565.4):c.1012G>A (p.(Gly338Ser)) - FAM20A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1082G>A r.(?) p.(Arg361His) - likely benign g.66538153C>T - FAM20A(NM_017565.4):c.1082G>A (p.(Arg361His)) - FAM20A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1106_1107del r.(?) p.(Glu369GlyfsTer10) - pathogenic g.66538130_66538131del g.68541989_68541990del - - FAM20A_000035 - PubMed: Prasad 2016 - - Germline - - - - - Johan den Dunnen
?/. - c.1109+3G>T r.spl? p.? - VUS g.66538123C>A g.68541982C>A FAM20A(NM_001243746.1):c.695+3G>T - FAM20A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1109+3_1109+6del r.(?) p.(Glu369Glyfs*12) - VUS g.66538124_66538127del - FAM20A(NM_017565.4):c.1109+3_1109+6del - FAM20A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 8 c.1175_1179del r.0 p.(Arg392Profs*22) - pathogenic g.66537031_66537035del g.68540890_68540894del 1175_1179delGGCTC - FAM20A_000003 - PubMed: Cho 2012 - - Germline - - - - - JUNG-WOOK KIM
+/. - c.1228_1229del r.(?) p.(Asp410Profs*5) - pathogenic (recessive) g.66536098_66536099del g.68539957_68539958del 1228_1229delGA - FAM20A_000018 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+?/. - c.1294G>A r.(?) p.(Ala432Thr) - likely pathogenic g.66536033C>T g.68539892C>T - - FAM20A_000034 - PubMed: Prasad 2016 - - De novo - - - - - Johan den Dunnen
-?/. - c.1314C>T r.(?) p.(=) - likely benign g.66535525G>A - FAM20A(NM_017565.4):c.1314C>T (p.H438=) - FAM20A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1348_1349del r.(?) p.(Ser450Profs*20) - pathogenic (recessive) g.66535495_66535496del g.68539354_68539355del 1348_1349delTC - FAM20A_000016 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.1361+10C>A r.(=) p.(=) - likely benign g.66535468G>T - FAM20A(NM_017565.4):c.1361+10C>A - FAM20A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1369A>T r.(?) p.(Lys457*) - pathogenic (recessive) g.66533875T>A g.68537734T>A - - FAM20A_000026 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.1413C>G r.(?) p.(Tyr471*) - pathogenic (recessive) g.66533831G>C g.68537690G>C - - FAM20A_000042 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.1432C>T r.(?) p.(Arg478*) - pathogenic (recessive) g.66533812G>A g.68537671G>A g.68284C>T - FAM20A_000012 - PubMed: Wang 2013 - - Germline yes - - - - Johan den Dunnen
+/. - c.1432C>T r.(?) p.(Arg478*) - pathogenic (recessive) g.66533812G>A g.68537671G>A - - FAM20A_000012 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.1475_1478dup r.(?) p.(His494Thrfs*46) - pathogenic (recessive) g.66533766_66533769dup g.68537625_68537628dup 1475_1478dupAACCCCAC - FAM20A_000025 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.1511C>T r.(?) p.(Thr504Ile) - likely benign g.66533733G>A - FAM20A(NM_001243746.1):c.1097C>T (p.(Thr366Ile)) - FAM20A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1513del r.(?) p.(Ile505Serfs*2) - pathogenic (recessive) g.66533731del g.68537590del 1513delA - FAM20A_000024 - PubMed: Jaureguiberry 2012 - - Germline - - - - - Johan den Dunnen
-/. - c.1589T>C r.(?) p.(Leu530Ser) - benign g.66533655A>G g.68537514A>G - - FAM20A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.*7072G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
+/. - c.*7072G>A r.(=) p.(=) - pathogenic g.66526546C>T - PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter)) - PRKAR1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*7145G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.*7145G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
?/. - c.*7485C>A r.(=) p.(=) - VUS g.66526133G>T - - - FAM20A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*8616C>A r.(=) p.(=) - likely benign g.66525002G>T - PRKAR1A(NM_001369389.1):c.770-9G>T - FAM20A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*9621T>G r.(=) p.(=) - VUS g.66523997A>C - PRKAR1A(NM_212471.2):c.725A>C (p.K242T) - FAM20A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*11719T>C r.(=) p.(=) - VUS g.66521899A>G - - - FAM20A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*11741T>C r.(=) p.(=) - benign g.66521877A>G g.68525736A>G PRKAR1A(NM_002734.5):c.550-18A>G - PRKAR1A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.*12523G>A r.(=) p.(=) - VUS g.66521095C>T - PRKAR1A(NM_002734.5):c.545C>T (p.(Thr182Met)) - FAM20A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.*12544T>C r.(=) p.(=) - likely pathogenic g.66521074A>G - PRKAR1A(NM_002734.5):c.524A>G (p.Y175C) - PRKAR1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*13413A>G r.(=) p.(=) - likely benign g.66520205T>C - PRKAR1A(NM_001369389.1):c.489T>C (p.T163=) - FAM20A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*13506C>T r.(=) p.(=) - benign g.66520112G>A - PRKAR1A(NM_212471.2):c.441-45G>A - FAM20A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. - c.*13646A>G r.(=) p.(=) - benign g.66519972T>C g.68523831T>C PRKAR1A(NM_212471.2):c.440+15T>C - PRKAR1A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*13720A>G r.(=) p.(=) - likely benign g.66519898T>C - PRKAR1A(NM_001369389.1):c.381T>C (p.A127=) - FAM20A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*13760dup r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.*14528C>T r.(=) p.(=) - likely benign g.66519090G>A - PRKAR1A(NM_002734.5):c.348+23G>A - FAM20A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*14678C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.*14678C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.*14678C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.*14695C>T r.(=) p.(=) - likely benign g.66518923G>A - PRKAR1A(NM_002734.5):c.204G>A (p.L68=) - FAM20A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.*14716C>T r.(=) p.(=) - likely benign g.66518902G>A - PRKAR1A(NM_001369389.1):c.183G>A (p.E61=) - FAM20A_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*21871A>C r.(=) p.(=) - likely benign g.66511747T>G - PRKAR1A(NM_002734.5):c.177+30T>G - FAM20A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.*21894T>C r.(=) p.(=) - VUS g.66511724A>G - PRKAR1A(NM_001369389.1):c.177+7A>G - FAM20A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*21939T>C r.(=) p.(=) - VUS g.66511679A>G - PRKAR1A(NM_002734.5):c.139A>G (p.M47V) - FAM20A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*21975T>C r.(=) p.(=) - likely benign g.66511643A>G - PRKAR1A(NM_002734.5):c.103A>G (p.I35V) - FAM20A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*21991C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_VUmc
-/. - c.*21991C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. - c.*22007T>C r.(=) p.(=) - VUS g.66511611A>G - - - FAM20A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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