Unique variants in the PRX gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the transcript reference sequence.

104 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

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.-242-1975C>T r.(=) p.(=) - benign g.40916265G>A g.40410358G>A PRX(NM_020956.2):c.-242-1975C>T - PRX_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.-201C>T r.(=) p.(=) - VUS g.40914249G>A g.40408342G>A - - PRX_000056 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.-141G>A r.(=) p.(=) - VUS g.40914106C>T g.40408199C>T - - PRX_000070 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.-20A>C r.(?) p.(=) - VUS g.40913859T>G g.40407952T>G PRX(NM_020956.2):c.-20A>C - PRX_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2T>C r.(?) p.(Met1?) - VUS g.40913838A>G g.40407931A>G PRX(NM_020956.2):c.2T>C (p.M1?) - PRX_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.28-52G>A r.(=) p.(=) - benign g.40909821C>T g.40403914C>T - - PRX_000071 - - - rs2613842 Germline - - - - - Andreas Laner
+/. 1 4i_5i c.(27+1_28-1)_(184+1_185-1)del r.? p.? ACMG likely pathogenic g.(45596564_45601452)_(45601610_45605652)del - - - PRX_000075 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - Johan den Dunnen
-?/. 1 - c.44A>G r.(?) p.(Glu15Gly) - likely benign g.40909753T>C g.40403846T>C PRX(NM_020956.2):c.44A>G (p.E15G) - PRX_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.46T>G r.(?) p.(Leu16Val) - likely benign g.40909751A>C g.40403844A>C PRX(NM_020956.2):c.46T>G (p.L16V) - PRX_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.50T>G r.(?) p.(Val17Gly) - likely benign g.40909747A>C g.40403840A>C PRX(NM_020956.2):c.50T>G (p.V17G) - PRX_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.53A>G r.(?) p.(Glu18Gly) - likely benign g.40909744T>C g.40403837T>C PRX(NM_020956.2):c.53A>G (p.E18G) - PRX_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.65A>G r.(?) p.(Glu22Gly) - likely benign g.40909732T>C g.40403825T>C PRX(NM_020956.2):c.65A>G (p.E22G) - PRX_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.133C>G r.(?) p.(Arg45Gly) - benign, likely benign g.40909664G>C g.40403757G>C PRX(NM_020956.2):c.133C>G (p.R45G) - PRX_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 - c.176T>C r.(?) p.(Leu59Pro) - pathogenic g.40909621A>G g.40403714A>G PRX(NM_020956.2):c.176T>C (p.L59P) - PRX_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 6 c.247del r.(?) p.(Leu83Cysfs*14) - pathogenic g.40904662del g.40398755del c.247delC - PRX_000013 - PubMed: Takashima 2002 - - Germline - - - - - Johan den Dunnen
-/. 3 - c.306C>T r.(?) p.(Thr102=) - benign g.40904602G>A g.40398695G>A PRX(NM_020956.2):c.306C>T (p.T102=) - PRX_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.381+81C>T r.(=) p.(=) - likely benign g.40904446G>A g.40398539G>A PRX(NM_020956.2):c.*18C>T - PRX_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 7 c.385_394dup r.(?) p.(Leu132Hisfs*22) - pathogenic g.40903866_40903875dup g.40397959_40397968dup c.385_394dupATCCAGAGTC - PRX_000019 - PubMed: Otagiri 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.445G>A r.(?) p.(Ala149Thr) - VUS g.40903814C>T g.40397907C>T - - PRX_000105 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142436391 Germline - 1/2780 individuals - - - Mohammed Faruq
-/. 1 - c.471G>A r.(?) p.(Glu157=) - benign g.40903788C>T g.40397881C>T PRX(NM_181882.2):c.471G>A (p.E157=) - PRX_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.499C>T r.(?) p.(Arg167Cys) - VUS g.40903760G>A - PRX(NM_181882.2):c.499C>T (p.R167C) - PRX_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 7 c.586C>T r.(?) p.(Arg196*), p.(Arg196Ter) - pathogenic g.40903673G>A g.40397766G>A PRX(NM_181882.2):c.586C>T (p.R196*) - PRX_000020, PRX_000041 VKGL data sharing initiative Nederland PubMed: Guilbot 2001 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.589G>T r.(?) p.(Glu197*) - VUS g.40903670C>A - - - PRX_000112 - - - - Germline - - - - - Carmen Espinós
?/. 1 - c.613G>C r.(?) p.(Ala205Pro) - VUS g.40903646C>G g.40397739C>G PRX(NM_181882.2):c.613G>C (p.A205P) - PRX_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.719G>A r.(?) p.(Arg240Gln) - VUS g.40903540C>T g.40397633C>T PRX(NM_181882.2):c.719G>A (p.R240Q) - PRX_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 7 c.730del r.(?) p.(Ala244Argfs*69) - pathogenic g.40903532del g.40397625del c.730delG - PRX_000021 - PubMed: Baets 2011 - - Germline - - - - - Johan den Dunnen
-/., ?/. 3 - c.731C>T r.(?) p.(Ala244Val) - benign, VUS g.40903528G>A g.40397621G>A PRX(NM_181882.2):c.731C>T (p.A244V) - PRX_000003, PRX_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 7 c.773_774dup r.(?) p.(Ser259Profs*55) - pathogenic g.40903488_40903489dup g.40397581_40397582dup c.773_774dupCC - PRX_000022 - PubMed: Marchesi 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.794G>T r.(?) p.(Gly265Val) - VUS g.40903465C>A g.40397558C>A PRX(NM_181882.2):c.794G>T (p.G265V) - PRX_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.811C>T r.(?) p.(Pro271Ser) - VUS g.40903448G>A g.40397541G>A PRX(NM_181882.2):c.811C>T (p.P271S) - PRX_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.823C>A r.(?) p.(Leu275Ile) - VUS g.40903436G>T g.40397529G>T PRX(NM_181882.2):c.823C>A (p.L275I) - PRX_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.862G>A r.(?) p.(Val288Met) - VUS g.40903397C>T g.40397490C>T PRX(NM_020956.2):c.*1067G>A (p.(=)) - PRX_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.892C>T r.(?) p.(Pro298Ser) - VUS g.40903367G>A g.40397460G>A - - PRX_000104 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185112635 Germline - 2/2779 individuals - - - Mohammed Faruq
+/. 1 - c.913dup r.(?) p.(Thr305Asnfs*48) ACMG likely pathogenic g.40903346dup g.40397439dup 913dupA - PRX_000078 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - Johan den Dunnen
+?/. 1 - c.1012del r.(?) p.(Ala338Profs*18) ACMG likely pathogenic g.40903248del g.40397341del 1012delG - PRX_000076 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - Johan den Dunnen
-/., -?/. 2 - c.1051C>T r.(?) p.(Pro351Ser) - benign, likely benign g.40903208G>A g.40397301G>A PRX(NM_181882.2):c.1051C>T (p.P351S) - PRX_000091 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs73933276 CLASSIFICATION record, Germline - 2/2775 individuals - - - VKGL-NL_AMC, Mohammed Faruq
+/. 2 7 c.1090C>T r.(?) p.(Arg364*), p.(Arg364Ter) - pathogenic g.40903169G>A g.40397262G>A - - PRX_000004 VKGL data sharing initiative Nederland PubMed: Nouioua 2011 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 2 7 c.1102C>T r.(?) p.(Arg368*), p.(Arg368Ter) - pathogenic g.40903157G>A g.40397250G>A PRX(NM_181882.2):c.1102C>T (p.R368*) - PRX_000005, PRX_000036 VKGL data sharing initiative Nederland PubMed: Boerkoel 2001 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
-?/. 1 - c.1113A>G r.(?) p.(Glu371=) - likely benign g.40903146T>C g.40397239T>C PRX(NM_181882.2):c.1113A>G (p.E371=) - PRX_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 7 c.1194_1197del r.(?) p.(Leu400Trpfs*11) - pathogenic g.40903062_40903065del g.40397155_40397158del c.1194_1197delTTCC - PRX_000006 - PubMed: Kabzinska 2006 - - Germline - - - - - Johan den Dunnen
-/. 2 - c.1216G>A r.(?) p.(Ala406Thr) - benign g.40903043C>T g.40397136C>T PRX(NM_181882.2):c.1216G>A (p.A406T) - PRX_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1251G>T r.(?) p.(Leu417=) - likely benign g.40903008C>A g.40397101C>A PRX(NM_181882.2):c.1251G>T (p.L417=) - PRX_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1281C>T r.(?) p.(Ile427=) - benign g.40902978G>A g.40397071G>A PRX(NM_181882.2):c.1281C>T (p.I427=) - PRX_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.1390C>T r.(?) p.(Arg464*) ACMG likely pathogenic g.40902869G>A g.40396962G>A - - PRX_000077 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - Johan den Dunnen
-?/. 1 - c.1446A>C r.(?) p.(Pro482=) - likely benign g.40902813T>G g.40396906T>G - - PRX_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1483G>C r.(?) p.(Glu495Gln) - benign g.40902776C>G g.40396869C>G PRX(NM_181882.2):c.1483G>C (p.E495Q) - PRX_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1491C>G r.(?) p.(Pro497=) - benign g.40902768G>C g.40396861G>C PRX(NM_181882.2):c.1491C>G (p.P497=) - PRX_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1491del r.(?) p.(Val499Cysfs*4) - pathogenic g.40902770del g.40396863del 1491delC - PRX_000031 - - - - Unknown - - - - - IMGAG
-/. 1 - c.1500A>G r.(?) p.(Ser500=) - benign g.40902759T>C g.40396852T>C PRX(NM_181882.2):c.1500A>G (p.S500=) - PRX_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.1574T>C r.(?) p.(Val525Ala) - likely benign g.40902685A>G g.40396778A>G PRX(NM_181882.2):c.1574T>C (p.V525A) - PRX_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/. 2 7 c.1639C>T r.(?) p.(Gln547*), p.(Gln547Ter) - likely pathogenic, pathogenic g.40902620G>A g.40396713G>A PRX(NM_181882.2):c.1639C>T (p.Q547*) - PRX_000007, PRX_000029 VKGL data sharing initiative Nederland PubMed: Marchesi 2010 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.1759C>T r.(?) p.(Leu587Phe) - VUS g.40902500G>A - PRX(NM_181882.2):c.1759C>T (p.L587F) - PRX_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1836C>T r.(?) p.(Ala612=) - likely benign g.40902423G>A g.40396516G>A PRX(NM_181882.2):c.1836C>T (p.A612=) - PRX_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2017A>G r.(?) p.(Met673Val) - benign g.40902242T>C g.40396335T>C PRX(NM_181882.2):c.2017A>G (p.M673V) - PRX_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 7 c.2044G>T r.(?) p.(Glu682*) - pathogenic g.40902215C>A g.40396308C>A - - PRX_000008 - PubMed: Marchesi 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.2098del r.(?) p.(Ala700Profs*18) - pathogenic g.40902162del g.40396255del c.2098delG - PRX_000009 - PubMed: Auer-Grumbach 2008 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2106C>T r.(?) p.(Pro702=) - likely benign g.40902153G>A - PRX(NM_181882.2):c.2106C>T (p.P702=) - PRX_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 7 c.2145T>A r.(?) p.(Cys715*), p.(Cys715Ter) - pathogenic g.40902114A>T g.40396207A>T PRX(NM_181882.2):c.2145T>A (p.C715*) - PRX_000010, PRX_000027 VKGL data sharing initiative Nederland PubMed: Takashima 2002 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 2 - c.2254G>A r.(?) p.(Glu752Lys) - VUS g.40902005C>T g.40396098C>T PRX(NM_181882.2):c.2254G>A (p.E752K) - PRX_000026 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs147587689 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.2282C>T r.(?) p.(Pro761Leu) - VUS g.40901977G>A g.40396070G>A PRX(NM_181882.2):c.2282C>T (p.P761L) - PRX_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 7 c.2289del r.(?) p.(Asp765Thrfs*10) - pathogenic g.40901971del g.40396064del c.2289delT - PRX_000011 - PubMed: Boerkoel 2001 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2420C>G r.(?) p.(Pro807Arg) - VUS g.40901839G>C g.40395932G>C PRX(NM_181882.2):c.2420C>G (p.P807R) - PRX_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.2421del r.(?) p.(Lys808Serfs*2) - pathogenic g.40901840del g.40395933del c.2421delC - PRX_000012 - PubMed: Marchesi 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2464G>A r.(?) p.(Glu822Lys) - VUS g.40901795C>T g.40395888C>T PRX(NM_181882.2):c.2464G>A (p.E822K) - PRX_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.2469G>A r.(?) p.(Ala823=) - benign g.40901790C>T g.40395883C>T PRX(NM_181882.2):c.2469G>A (p.A823=) - PRX_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.2548C>G r.(?) p.(Pro850Ala) - likely benign, VUS g.40901711G>C g.40395804G>C PRX(NM_181882.2):c.2548C>G (p.P850A) - PRX_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.2571G>A r.(?) p.(Val857=) - likely benign g.40901688C>T g.40395781C>T PRX(NM_181882.2):c.2571G>A (p.V857=) - PRX_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.2602del r.(?) p.(Gln868Argfs*53) ACMG likely pathogenic g.40901657del g.40395750del 2602delC - PRX_000079 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - Johan den Dunnen
?/. 1 - c.2620G>A r.(?) p.(Ala874Thr) - VUS g.40901639C>T - PRX(NM_181882.2):c.2620G>A (p.A874T) - PRX_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.2645T>C r.(?) p.(Val882Ala) - benign g.40901614A>G g.40395707A>G PRX(NM_181882.2):c.2645T>C (p.V882A) - PRX_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.2645T>G r.(?) p.(Val882Gly) - benign g.40901614A>C g.40395707A>C PRX(NM_181882.2):c.2645T>G (p.V882G) - PRX_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.2655T>C r.(?) p.(Pro885=) - benign g.40901604A>G g.40395697A>G PRX(NM_181882.2):c.2655T>C (p.P885=) - PRX_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.2727C>T r.(?) p.(Pro909=) - benign g.40901532G>A g.40395625G>A PRX(NM_181882.2):c.2727C>T (p.P909=) - PRX_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2731G>A r.(?) p.(Val911Met) - likely benign g.40901528C>T g.40395621C>T PRX(NM_181882.2):c.2731G>A (p.V911M) - PRX_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.2763A>G r.(?) p.(Ile921Met) - benign g.40901496T>C g.40395589T>C PRX(NM_181882.2):c.2763A>G (p.I921M) - PRX_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., ?/. 2 7 c.2775C>T r.(?) p.(Val925=), Val925(=) - benign, VUS g.40901484G>A g.40395577G>A PRX(NM_181882.2):c.2775C>T (p.V925=) - PRX_000069 VKGL data sharing initiative Nederland MDCRC 2021, submitted - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_AMC, Lakshmi Bremadesam
+/. 1 7 c.2787del r.(?) p.(Lys930Serfs*28) - pathogenic g.40901473del g.40395566del c.2787delC - PRX_000014 - PubMed: Boerkoel 2001 - - Germline - - - - - Johan den Dunnen
+/. 2 7 c.2857C>T r.(?) p.(Arg953*), p.(Arg953Ter) - pathogenic g.40901402G>A g.40395495G>A PRX(NM_181882.2):c.2857C>T (p.R953*) - PRX_000015 VKGL data sharing initiative Nederland PubMed: Boerkoel 2001 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 7 c.2909G>A r.(?) p.(Arg970Gln) - pathogenic g.40901350C>T g.40395443C>T - - PRX_000016 - PubMed: Kabzinska 2009 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2920G>A r.(?) p.(Glu974Lys) - VUS g.40901339C>T g.40395432C>T PRX(NM_181882.2):c.2920G>A (p.E974K) - PRX_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.3099del r.(?) p.(Glu1034Argfs*5) - pathogenic (recessive) g.40901160del g.40395253del - - PRX_000106 variants only partially accounts for phenotype PubMed: Makrythanasis 2014 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 - c.3110A>G r.(?) p.(Glu1037Gly) - likely benign, VUS g.40901149T>C g.40395242T>C PRX(NM_020956.2):c.*3315A>G (p.(=)), PRX(NM_181882.2):c.3110A>G (p.E1037G) - PRX_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 - c.3120del r.(?) p.(Val1042Trpfs*15) ACMG likely pathogenic g.40901139del g.40395232del 3120delA - PRX_000080 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - Johan den Dunnen
?/. 1 - c.3186G>T r.(?) p.(Lys1062Asn) - VUS g.40901073C>A g.40395166C>A PRX(NM_181882.2):c.3186G>T (p.K1062N) - PRX_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 3 7 c.3208C>T r.(?) p.(Arg1070*), p.(Arg1070Ter) - pathogenic g.40901051G>A g.40395144G>A PRX(NM_181882.2):c.3208C>T (p.R1070*) - PRX_000017, PRX_000066 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Kijima 2004, PubMed: Narang 2020, Journal: Narang 2020 - rs104894708 CLASSIFICATION record, Germline - 1/2794 individuals - - - Johan den Dunnen, VKGL-NL_AMC, Mohammed Faruq
-/. 1 - c.3218A>G r.(?) p.(Glu1073Gly) - benign g.40901041T>C g.40395134T>C PRX(NM_181882.2):c.3218A>G (p.E1073G) - HIPK4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.3248C>G r.(?) p.(Pro1083Arg) - benign g.40901011G>C g.40395104G>C PRX(NM_181882.2):c.3248C>G (p.P1083R) - PRX_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/., ?/. 3 - c.3373G>A r.(?) p.(Gly1125Ser) - likely benign, VUS g.40900886C>T g.40394979C>T PRX(NM_181882.2):c.3373G>A (p.G1125S) - PRX_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 3 - c.3394G>A r.(?) p.(Gly1132Arg) - benign g.40900865C>T g.40394958C>T PRX(NM_181882.2):c.3394G>A (p.G1132R) - PRX_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.3439C>T r.(?) p.(Pro1147Ser) - likely benign g.40900820G>A - PRX(NM_181882.2):c.3439C>T (p.P1147S) - HIPK4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.3496C>T r.(?) p.(Pro1166Ser) - likely benign, VUS g.40900763G>A g.40394856G>A PRX(NM_181882.2):c.3496C>T (p.P1166S) - PRX_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/., ?/. 3 - c.3702C>T r.(=), r.(?) p.(=), p.(Gly1234=) - likely benign, VUS g.40900557G>A g.40394650G>A PRX(NM_181882.2):c.3702C>T (p.G1234=) - PRX_000060 2 homozygous; Clinindb (India), 29 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs139950446 CLASSIFICATION record, Germline - 2/2778 individuals, 29/2778 individuals - - - VKGL-NL_AMC, Mohammed Faruq
+/. 1 7 c.3772_3773delinsA r.(?) p.(Gly1258Thrfs*124) - pathogenic g.40900486_40900487delinsT g.40394579_40394580delinsT c.3772_3773delGGinsA - PRX_000018 - PubMed: Baets 2011 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.3774C>T r.(=) p.(=) - VUS g.40900485G>A g.40394578G>A - - PRX_000002 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.3775G>A r.(?) p.(Glu1259Lys) - benign g.40900484C>T g.40394577C>T PRX(NM_181882.2):c.3775G>A (p.E1259K) - PRX_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3964_3965insC r.(?) p.(Glu1322Alafs*3) - VUS g.40900294_40900295insG g.40394387_40394388insG g.40900295insG - PRX_000100 - - - - Germline - - - - - Carmen Espinós
-/. 1 - c.4044G>C r.(?) p.(Gly1348=) - benign g.40900215C>G g.40394308C>G PRX(NM_181882.2):c.4044G>C (p.G1348=) - HIPK4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.4074_4079del r.(?) p.(Glu1360_Glu1361del) - likely benign g.40900197_40900202del g.40394290_40394295del PRX(NM_181882.2):c.4074_4079delGGAGGA (p.E1360_E1361del) - HIPK4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.4077_4079del r.(?) p.(Glu1361del) - benign g.40900200_40900202del g.40394293_40394295del PRX(NM_181882.2):c.4077_4079delGAG (p.E1361del), PRX(NM_181882.2):c.4077_4079delGGA (p.E1361del) - PRX_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.4118G>A r.(?) p.(Arg1373Gln) - VUS g.40900141C>T - PRX(NM_181882.2):c.4118G>A (p.R1373Q) - HIPK4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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