Unique variants in the GNPTAB gene

Information The variants shown are described using the NM_024312.4 transcript reference sequence.

319 entries on 4 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     
-/., -?/. 2 - c.-41_-39del r.(?) p.(=) - benign, likely benign g.102224513_102224515del g.101830735_101830737del GNPTAB(NM_024312.4):c.-41_-39delGGC, GNPTAB(NM_024312.5):c.-41_-39delGGC - GNPTAB_000055, GNPTAB_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+? 1 1 c.1A>G r.(?) p.(Met1?) - pathogenic g.102224453T>C g.101830675T>C - - GNPTAB_000293 - - - - Germline - - - - - Renata Voltolini Velho
+/+ 1 1 c.10A>C r.(?) p.(Lys4Gln) - pathogenic g.102224444T>G g.101830666T>G - - GNPTAB_000060 - Journal: Kudo et al. 2006 - - Germline - - - - - Renata Voltolini Velho
-/- 1 1 c.18G>A r.(?) p.(Leu6=) - benign g.102224436C>T g.101830658C>T GNPTAB(NM_024312.4):c.18G>A (p.L6=) - GNPTAB_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.22A>G r.(?) p.(Arg8Gly) - pathogenic g.102224432T>C g.101830654T>C - - GNPTAB_000061 - Journal: Tüysüz 2016 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 1 c.44C>A r.(?) p.(Ser15Tyr) - pathogenic g.102224410G>T g.101830632G>T - - GNPTAB_000062 - Journal: Cathey 2010 - - Germline - - - - - Renata Voltolini Velho
+?/+?, +?/. 2 1 c.70T>G r.(?) p.(Phe24Val) - likely pathogenic g.102224384A>C g.101830606A>C - - GNPTAB_000009 Found in cis with the c.1000C>T. - - rs141329633 Germline, Unknown ? 2/1013 patients - - - Muhammad Raza, Renata Voltolini Velho
+/+ 1 1 c.77G>A r.(?) p.(Gly26Asp) - pathogenic g.102224377C>T g.101830599C>T - - GNPTAB_000249 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 1 c.80T>A r.(?) p.(Val27Asp) - pathogenic g.102224374A>T g.101830596A>T - - GNPTAB_000250 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 1 c.83T>A r.(?) p.(Val28Asp) - pathogenic g.102224371A>T g.101830593A>T - - GNPTAB_000286 - - - - Germline - - - - - Renata Voltolini Velho
+/+ 1 1 c.88_89del r.(?) p.(Thr30Hisfs*24) - pathogenic g.102224366_102224367del g.101830588_101830589del - - GNPTAB_000063 - Journal: Wang 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 1 c.99del r.(?) p.(Ala34Profs*49) - pathogenic g.102224356del g.101830578del - - GNPTAB_000064 - Journal: Liu 2016 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 1 c.100G>C r.(?) p.(Ala34Pro) - pathogenic g.102224354C>G g.101830576C>G - - GNPTAB_000065 - Journal: Wang 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 1 c.107A>C r.(?) p.(Gln36Pro) - pathogenic g.102224347T>G g.101830569T>G - - GNPTAB_000251 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
-/-? 1 1i c.117+27C>G r.(=) p.(=) - benign g.102224310G>C g.101830532G>C GNPTAB(NM_024312.4):c.117+27C>G - GNPTAB_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1i c.118-2A>G r.118_203del p.Val40Alafs*8 - pathogenic g.102190542T>C g.101796764T>C - - GNPTAB_000067 - Journal: Bargal 2006 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 1i c.118-1G>A r.spl? p.? - pathogenic g.102190541C>T g.101796763C>T - - GNPTAB_000066 - Journal: Liu 2016 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 2 c.118_223dup r.118_203dup p.(Leu69Trpfs*43) - pathogenic g.102183816_102190540dup g.101790038_101796762dup Duplication ex 2 - GNPTAB_000075 - Journal: Otomo 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 2 c.120_2715+2del r.118_2715del p.(Val40_Asp905del) - pathogenic g.102157980_102190540del g.101764202_101796762del - - GNPTAB_000068 delEx2-13 - - - Germline - - - - - Renata Voltolini Velho
+/+ 1 2 c.121del r.(?) p.(Val41Phefs*42) - pathogenic g.102190538del g.101796760del - - GNPTAB_000069 - Journal: Encarnação 2009 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 2 c.132G>A r.(?) p.(Trp44*) - pathogenic g.102190526C>T g.101796748C>T - - GNPTAB_000070 - Journal: Wang 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 2 c.136C>T r.(?) p.(Arg46*) - pathogenic g.102190522G>A g.101796744G>A - - GNPTAB_000071 - Journal: Cathey 2010 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+?/., -/., -?/. 3 2 c.137G>A r.(?) p.(Arg46Gln) - benign, likely benign, likely pathogenic g.102190521C>T g.101796743C>T GNPTAB(NM_024312.4):c.137G>A (p.R46Q, p.(Arg46Gln)) - GNPTAB_000008 VKGL data sharing initiative Nederland - - rs117566084 CLASSIFICATION record, Germline yes 11/1013 patients - - - Muhammad Raza, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+ 1 2 c.163dup r.163dup p.Ser55Phefs*3 - pathogenic g.102190496dup g.101796718dup - - GNPTAB_000072 - Journal: Zarghooni & Dittakavi 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 2 c.168T>A r.(?) p.(Tyr56*) - pathogenic g.102190490A>T g.101796712A>T - - GNPTAB_000073 - Journal: Cathey 2010 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 2 c.171del r.(?) p.(Asp58Thrfs*25) - pathogenic g.102190487del g.101796709del - - GNPTAB_000074 - Journal: Cathey 2010 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 2 c.196C>T r.(?) p.(Gln66*) - pathogenic g.102190462G>A g.101796684G>A - - GNPTAB_000076 - Journal: Oussoren 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 2 c.227A>G r.(?) p.(Asp76Gly) - pathogenic g.102183812T>C g.101790034T>C - - GNPTAB_000077 - Journal: Ludwig 2017 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+, +?/+ 3 3 c.232_234del r.(?) p.(Val78del) - pathogenic g.102183808_102183810del g.101790030_101790032del GNPTAB(NM_024312.4):c.232_234delGTT (p.V78del) - GNPTAB_000006 VKGL data sharing initiative Nederland Journal: Cathey 2010 - rs281864952 CLASSIFICATION record, Germline yes 1/1013 patients - - - Muhammad Raza, VKGL-NL_Rotterdam, Renata Voltolini Velho
+/+ 1 3 c.242G>T r.242g>u p.Trp81Leu - pathogenic g.102183797C>A g.101790019C>A - - GNPTAB_000078 - Journal: Encarnacao 2009 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 3 c.244del r.(?) p.(Val82*) - pathogenic g.102183797del g.101790019del - - GNPTAB_000288 - - - - Germline - - - - - Renata Voltolini Velho
+/+ 1 3 c.251dup r.(?) p.(Thr85Hisfs*4) - pathogenic g.102183789dup g.101790011dup - - GNPTAB_000252 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 3 c.310C>T r.(?) p.(Gln104*) - pathogenic g.102183729G>A g.101789951G>A - - GNPTAB_000079 - Journal: Paik 2005 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 3i c.323+1G>A r.204_323del p.Leu69_Arg108del - pathogenic g.102183715C>T g.101789937C>T - - GNPTAB_000285 - - - - Germline - - - - - Renata Voltolini Velho
+/. 1 - c.324-2A>G r.spl? p.? - pathogenic g.102182369T>C - GNPTAB(NM_024312.4):c.324-2A>G - GNPTAB_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 4 c.325G>T r.(?) p.(Glu109*) - pathogenic g.102182366C>A g.101788588C>A - - GNPTAB_000253 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+?/. 1 4 c.337A>G r.(?) p.(Lys113Glu) - likely pathogenic g.102182354T>C g.101788576T>C - - GNPTAB_000007 - - - rs140656599 Germline yes 3/1013 patients - - - Muhammad Raza
+/+ 1 4 c.344_345del r.(?) p.(Thr115Asnfs*5) - pathogenic g.102182349_102182350del g.101788571_101788572del - - GNPTAB_000080 - Journal: Cathey 2010 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
?/. 1 - c.355A>G r.(?) p.(Thr119Ala) - VUS g.102182336T>C g.101788558T>C - - GNPTAB_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 4i c.365+96_365+97del r.(=) p.(=) - benign g.102182232_102182233del g.101788454_101788455del GNPTAB(NM_024312.4):c.365+96_365+97delGT - GNPTAB_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 4i c.366-1G>C r.spl? p.? - pathogenic g.102179996C>G g.101786218C>G - - GNPTAB_000081 - Journal: Oussoren 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 5 c.376_379del r.(?) p.(Leu126Serfs*4) - pathogenic g.102179984_102179987del g.101786206_101786209del - - GNPTAB_000254 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 5 c.377T>A r.(?) p.(Leu126*) - pathogenic g.102179984A>T g.101786206A>T - - GNPTAB_000255 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
?/. 1 5 c.382T>C r.(?) p.(Cys128Arg) - VUS g.102179979A>G g.101786201A>G GNPTAB(NM_024312.4):c.382T>C (p.(Cys128Arg)) - GNPTAB_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 5 c.441del r.411del p.Asn148Thrfs*4 - pathogenic g.102179921del g.101786143del - - GNPTAB_000082 - Journal: Encarnacao 2009 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 5 c.471_472del r.(?) p.(Tyr158Serfs*8) - pathogenic g.102179890_102179891del g.101786112_101786113del - - GNPTAB_000083 - Journal: Yang 2017 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
?/. 1 5 c.500T>A r.(?) p.(Ile167Asn) - VUS g.102179861A>T g.101786083A>T - - GNPTAB_000010 - - - - Germline no - - - - Muhammad Raza
+/+ 1 5 c.516dup r.(?) p.(Pro173Thrfs*14) - pathogenic g.102179848dup g.101786070dup - - GNPTAB_000294 - - - - Germline - - - - - Renata Voltolini Velho
+/+ 1 5 c.517_518insA r.(?) p.(Pro173Hisfs*14) - pathogenic g.102179843_102179844insT g.101786065_101786066insT - - GNPTAB_000084 - Journal: Cathey 2010 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 5 c.523_524delinsG r.(?) p.(Asn175Alafs*38) - pathogenic g.102179837_102179838delinsC g.101786059_101786060delinsC - - GNPTAB_000085 - Journal: Liu 2016 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 5 c.545T>A r.545u>a p.Val182Asp - pathogenic g.102179816A>T g.101786038A>T - - GNPTAB_000086 - Journal: Zarghooni & Dittakavi 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 5 c.555_556insHSU14569 r.555_556ins[U14569.1inv;c.540-555] p.Glu123* - pathogenic g.102179805_102179806insHSU14569 - Alu insertion mutation - GNPTAB_000284 1 more item Journal: Tappino 2008 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+?/+? 1 5 c.560G>C r.(?) p.(Ser187Thr) - likely pathogenic g.102179801C>G g.101786023C>G - - GNPTAB_000011 - - - - Germline yes 1/1013 patients - - - Muhammad Raza
+/+ 1 5 c.569A>T r.568_571del p.Asp190Leufs*31 - pathogenic g.102179792T>A g.101786014T>A - - GNPTAB_000087 Splicing defect or p.Asp190Val Journal: Kudo 2006 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+? 1 5 c.571G>A r.(?) p.(Val191Ile) - pathogenic g.102179790C>T g.101786012C>T - - GNPTAB_000291 - - - - Germline - Not detected in 100 control chromosomes - - - Renata Voltolini Velho
+/+ 1 5i c.571+3A>C r.366_571del p.Glu123* - pathogenic g.102179787T>G g.101786009T>G - - GNPTAB_000088 Exon 5 splicing affected. Exon 5 skipped. Journal: Zarghooni & Dittakavi 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
?/. 1 6 c.580G>A r.(?) p.(Ala194Thr) - VUS g.102174391C>T g.101780613C>T - - GNPTAB_000012 - - - - Germline no 1/677 controls - - - Muhammad Raza
-?/. 1 - c.609C>G r.(?) p.(Ser203Arg) - likely benign g.102174362G>C - GNPTAB(NM_024312.4):c.609C>G (p.(Ser203Arg)) - GNPTAB_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 6 c.613C>T r.(?) p.(Gln205*) - pathogenic g.102174358G>A g.101780580G>A - - GNPTAB_000256 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 6 c.614A>C r.614a>c p.Gln205Pro - pathogenic g.102174357T>G g.101780579T>G - - GNPTAB_000089 - Journal: Zarghooni & Dittakavi 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 6 c.616_619del r.(?) p.(Thr206Tyrfs*6) - pathogenic g.102174359_102174362del g.101780581_101780584del - - GNPTAB_000090 - Journal: Kudo 2006 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 6 c.625_629del r.(?) p.(Arg209Leufs*6) - pathogenic g.102174344_102174348del g.101780566_101780570del - - GNPTAB_000091 - Journal: Cathey 2010 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 6i c.637-6T>G r.(=) p.(Thr213Phefs*11) - pathogenic g.102174070A>C g.101780292A>C - - GNPTAB_000093 Affect splicing exon 7, cDNA analysis reveal p.Thr213Phefs*11. Journal: Yang 2017 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 6i c.637-1G>A r.spl? p.? - pathogenic g.102174065C>T g.101780287C>T - - GNPTAB_000092 - Journal: Cathey 2010 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 7 c.648_651del r.(?) p.(Glu217Serfs*4) - pathogenic g.102174052_102174055del g.101780274_101780277del - - GNPTAB_000094 - Journal: Cathey 2010 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 7 c.749dup r.749dup p.Asn250Lysfs*5 - pathogenic g.102173955dup g.101780177dup - - GNPTAB_000095 - Journal: Tappino 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 7 c.750_751insA r.(?) p.(Leu251Thrfs*4) - pathogenic g.102173950_102173951insT g.101780172_101780173insT - - GNPTAB_000096 - Journal: Cathey 2010 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 7 c.755_759del r.755_759del p.Ser252* - pathogenic g.102173943_102173947del g.101780165_101780169del - - GNPTAB_000097 - Journal: Tappino 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 7 c.771G>A r.637_771del p.Thr213_Leu257del - pathogenic g.102173930C>T g.101780152C>T - - GNPTAB_000098 Splicing defect, exon 7 skipped. Journal: Steet 2005 - - Germline - - - - - Renata Voltolini Velho
-?/. 1 - c.771+7A>C r.(=) p.(=) - likely benign g.102173923T>G - GNPTAB(NM_024312.4):c.771+7A>C (p.(=)) - GNPTAB_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 8 c.831del r.(?) p.(Gln278Lysfs*3) - pathogenic g.102164879del g.101771101del - - GNPTAB_000099 - Journal: Ludwig 2017 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 8 c.832C>T r.(?) p.(Gln278*) - pathogenic g.102164875G>A g.101771097G>A - - GNPTAB_000100 - Journal: Kudo 2006 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 8 c.835G>T r.(?) p.(Glu279*) - pathogenic g.102164872C>A g.101771094C>A - - GNPTAB_000101 - Journal: Cobos 2014 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
-?/. 1 - c.842A>G r.(?) p.(Asn281Ser) - likely benign g.102164865T>C g.101771087T>C GNPTAB(NM_024312.5):c.842A>G (p.N281S) - GNPTAB_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 8 c.849_850del r.(?) p.(Gln283Hisfs*2) - pathogenic g.102164858_102164859del g.101771080_101771081del - - GNPTAB_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/+ 1 8 c.850del r.(?) p.(Thr284Leufs*5) - pathogenic g.102164859del g.101771081del - - GNPTAB_000102 - Journal: Kudo 2006 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 8 c.857dup r.857dup p.Asn287Glufs*5 - pathogenic g.102164851dup g.101771073dup - - GNPTAB_000103 - Journal: Tappino 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
-?/. 1 - c.866C>G r.(?) p.(Thr289Ser) - likely benign g.102164841G>C g.101771063G>C GNPTAB(NM_024312.4):c.866C>G (p.(Thr289Ser)) - GNPTAB_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 8 c.879dup r.(?) p.(Glu294Argfs*20) - pathogenic g.102164831dup g.101771053dup - - GNPTAB_000295 - - - - Germline - - - - - Renata Voltolini Velho
?/. 1 8 c.886A>G r.(?) p.(Thr296Ala) - VUS g.102164821T>C g.101771043T>C - - GNPTAB_000013 - - - - Germline no 1/677 controls - - - Muhammad Raza
+/+ 1 8 c.890dup r.(?) p.(Ser298Lysfs*16) - pathogenic g.102164817dup g.101771039dup - - GNPTAB_000104 - Journal: Wang et al. 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 8 c.914dup r.(?) p.(Asp305Glufs*9) - pathogenic g.102164793dup g.101771015dup - - GNPTAB_000105 - Journal: Otomo et al. 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
-?/. 1 - c.933+5G>A r.spl? p.? - likely benign g.102164769C>T g.101770991C>T GNPTAB(NM_024312.4):c.933+5G>A (p.?) - GNPTAB_000315 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 9 c.934_1013del r.(?) p.(Ser312Alafs*23) - pathogenic g.102164286_102164365del g.101770508_101770587del delEx9 - GNPTAB_000118 - Journal: Wang 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.940C>T r.940c>u p.Gln314* - pathogenic g.102164357G>A g.101770579G>A - - GNPTAB_000106 - Journal: Tappino 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+?/. 1 9 c.961A>G r.(?) p.(Ser321Gly) - likely pathogenic g.102164336T>C g.101770558T>C - - GNPTAB_000014 - - - rs137853824 Germline yes 1/1013 patients - - - Muhammad Raza
+/+ 1 9 c.991del r.(?) p.(Tyr331Thrfs*28) - pathogenic g.102164306del g.101770528del - - GNPTAB_000257 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.992A>G r.(?) p.(Tyr331Cys) - pathogenic g.102164305T>C g.101770527T>C - - GNPTAB_000107 - Journal: Yang 2017 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.1000C>T r.(?) p.(Arg334*) - pathogenic g.102164297G>A g.101770519G>A - - GNPTAB_000108 - Journal: Cathey 2010 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 9 c.1001G>A r.(?) p.(Arg334Gln) - pathogenic g.102164296C>T g.101770518C>T - - GNPTAB_000110 - Journal: Cathey 2010 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 9 c.1001G>C r.(?) p.(Arg334Pro) - pathogenic g.102164296C>G g.101770518C>G - - GNPTAB_000111 - Journal: Wang 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.1001G>T r.(?) p.(Arg334Leu) - pathogenic g.102164296C>A g.101770518C>A - - GNPTAB_000109 - Journal: Otomo 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.1016dup r.(?) p.(His339Glnfs*23) - pathogenic g.102164281dup g.101770503dup - - GNPTAB_000258 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.1017_1020dup r.(?) p.(Pro341Cysfs*22) - pathogenic g.102164280_102164283dup g.101770502_101770505dup - - GNPTAB_000112 - Journal: Soden 2014 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.1021_1023del r.(?) p.(Pro341del) - pathogenic g.102164276_102164278del g.101770498_101770500del - - GNPTAB_000113 - Journal: Mistri 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.1022del r.(?) p.(Pro341Hisfs*18) - pathogenic g.102164276del g.101770498del - - GNPTAB_000114 - Journal: Otomo 2015 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.1030C>T r.(?) p.(Arg344Trp) - pathogenic g.102164267G>A g.101770489G>A - - GNPTAB_000259 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+, -?/. 2 9 c.1042A>C r.(?) p.(Ile348Leu) - likely benign, pathogenic g.102164255T>G g.101770477T>G GNPTAB(NM_024312.4):c.1042A>C (p.(Ile348Leu)) - GNPTAB_000115 VKGL data sharing initiative Nederland Journal: Cathey 2010 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Leiden, Renata Voltolini Velho
+/+ 1 9 c.1052dup r.(?) p.(Asn351Lysfs*11) - pathogenic g.102164246dup g.101770468dup - - GNPTAB_000116 - - - - Germline - - - - - Renata Voltolini Velho
+/+ 1 9 c.1071G>A r.(?) p.(Trp357*) - pathogenic g.102164226C>T g.101770448C>T - - GNPTAB_000117 - Journal: Yang 2013 - - Germline - - - - - Renata Voltolini Velho
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