Unique variants in the GNPTG gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_032520.4 transcript reference sequence.

126 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.-5058C>T r.(?) p.(=) - likely benign g.1396909C>T g.1346908C>T BAIAP3(NM_001199096.1):c.2596C>T (p.(Arg866Cys)) - BAIAP3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-4210C>T r.(?) p.(=) - likely benign g.1397757C>T - BAIAP3(NM_001199096.1):c.2852C>T (p.(Ala951Val)) - BAIAP3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-3965G>A r.(?) p.(=) - VUS g.1398002G>A - BAIAP3(NM_001199097.2):c.3133G>A (p.(Asp1045Asn)) - BAIAP3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1855G>A r.(?) p.(=) - likely benign g.1400112G>A - TSR3(NM_001001410.2):c.650C>T (p.(Ala217Val)) - BAIAP3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-28G>A r.(?) p.(=) - VUS g.1401939G>A - GNPTG(NM_032520.5):c.-28G>A - BAIAP3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/-? 1 1 c.5C>T r.(?) p.(Ala2Val) - likely benign g.1401971C>T g.1351970C>T GNPTG(NM_032520.4):c.5C>T (p.A2V) - GNPTG_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 1 c.7G>A r.(?) p.(Ala3Thr) - likely pathogenic g.1401973G>A g.1351972G>A - - GNPTG_000003 - - - - Germline yes 2/1013 patients - - - Muhammad Raza
+?/. 1 1 c.8C>T r.(?) p.(Ala3Val) - likely pathogenic g.1401974C>T g.1351973C>T - - GNPTG_000004 - - - - Germline yes 2/1013 patients - - - Muhammad Raza
-?/. 2 - c.11G>A r.(?) p.(Gly4Glu) - likely benign g.1401977G>A g.1351976G>A GNPTG(NM_032520.4):c.11G>A (p.G4E, p.(Gly4Glu)) - BAIAP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+ 1 1 c.13del r.(?) p.(Leu5Trpfs*23) - pathogenic g.1401979del g.1351978del - - GNPTG_000038 - Journal: Wang 2018 - - Germline - - - - - Renata Voltolini Velho
+?/. 1 1 c.15_23dup r.(?) p.(Ala6_Leu8dup) - likely pathogenic g.1401981_1401989dup g.1351980_1351988dup - - GNPTG_000005 - - - - Germline yes 1/1013 patients - - - Muhammad Raza
?/. 1 1 c.19C>T r.(?) p.(Arg7Trp) - VUS g.1401985C>T g.1351984C>T - - GNPTG_000006 - - - - Germline no 1/677 controls - - - Muhammad Raza
+/+ 1 1 c.26del r.(?) p.(Leu9Argfs*19) - pathogenic g.1401992del g.1351991del - - GNPTG_000080 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+?/. 1 1 c.28T>G r.(?) p.(Leu10Val) - likely pathogenic g.1401994T>G g.1351993T>G - - GNPTG_000007 - - - - Germline yes 3/1013 patients - - - Muhammad Raza
-?/. 1 - c.41T>C r.(?) p.(Leu14Pro) - likely benign g.1402007T>C - GNPTG(NM_032520.4):c.41T>C (p.L14P) - BAIAP3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.52+20G>A r.(=) p.(=) - benign g.1402038G>A g.1352037G>A GNPTG(NM_032520.5):c.52+20G>A - BAIAP3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 2 c.67G>C r.(?) p.(Gly23Arg) - likely benign g.1402117G>C g.1352116G>C GNPTG(NM_032520.4):c.67G>C (p.(Gly23Arg)) - GNPTG_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/., -?/. 2 2 c.74C>A r.(?) p.(Ala25Glu) - likely benign, likely pathogenic g.1402124C>A g.1352123C>A GNPTG(NM_032520.4):c.74C>A (p.(Ala25Glu)) - GNPTG_000008 VKGL data sharing initiative Nederland - - rs137853826 CLASSIFICATION record, Germline yes 2/1013 patients - - - Muhammad Raza, VKGL-NL_Leiden
+?/. 1 2 c.74C>G r.(?) p.(Ala25Gly) - likely pathogenic g.1402124C>G g.1352123C>G - - GNPTG_000009 - - - rs137853826 Germline yes 1/1013 patients - - - Muhammad Raza
+?/. 1 2 c.93G>C r.(?) p.(Glu31Asp) - likely pathogenic g.1402143G>C g.1352142G>C - - GNPTG_000010 - - - rs8052503 Germline yes 1/1013 patients - - - Muhammad Raza
-?/. 1 - c.103G>A r.(?) p.(Ala35Thr) - likely benign g.1402153G>A - GNPTG(NM_032520.4):c.103G>A (p.(Ala35Thr)) - BAIAP3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 3 c.122_138del r.(?) p.(Pro41Glnfs*36) - pathogenic g.1402251_1402267del g.1352250_1352266del - - GNPTG_000039 - Journal: Oussoren 2018 - - Germline - - - - - Renata Voltolini Velho
-?/. 1 - c.154A>C r.(?) p.(Lys52Gln) - likely benign g.1402283A>C - GNPTG(NM_032520.4):c.154A>C (p.(Lys52Gln)) - BAIAP3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/., -?/., ?/. 3 3 c.161A>T r.(?) p.(Asp54Val) - likely benign, likely pathogenic, VUS g.1402290A>T g.1352289A>T GNPTG(NM_032520.4):c.161A>T (p.(Asp54Val)), GNPTG(NM_032520.5):c.161A>T (p.D54V) - GNPTG_000011 VKGL data sharing initiative Nederland - - rs368478807 CLASSIFICATION record, Germline yes 2/1013 patients - - - Muhammad Raza, VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.183C>T r.(?) p.(=) - likely benign g.1411748C>T - GNPTG(NM_032520.5):c.183C>T (p.P61=) - GNPTG_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 4 c.190_193dup r.(?) p.(Phe65SerfsTer19) - likely pathogenic g.1411755_1411758dup g.1361754_1361757dup c.189_192dupTCTC - GNPTG_000107 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/+, +/. 4 4 c.196C>T r.(?), r.196c>u p.(Arg66Ter), p.Arg66* - pathogenic g.1411761C>T g.1361760C>T GNPTG(NM_032520.4):c.196C>T (p.R66*), GNPTG(NM_032520.5):c.196C>T (p.R66*) - GNPTG_000029 VKGL data sharing initiative Nederland PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, Renata Voltolini Velho
?/. 1 4 c.230C>A r.(?) p.(Ser77Tyr) - VUS g.1411795C>A g.1361794C>A - - GNPTG_000012 - - - - Germline no 2/677 controls - - - Muhammad Raza
+/+ 1 4i c.233+1G>A r.spl? p.? - pathogenic g.1411799G>A g.1361798G>A - - GNPTG_000081 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 4i c.233+5G>C r.spl? p.? - pathogenic g.1411803G>C g.1361802G>C - - GNPTG_000040 - - - - Germline - - - - - Renata Voltolini Velho
-?/. 1 - c.233+7G>T r.(=) p.(=) - likely benign g.1411805G>T g.1361804G>T GNPTG(NM_032520.4):c.233+7G>T (p.(=)) - GNPTG_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 4i c.234-1G>C r.233_234ins233+1_233+74 p.Tyr79Thrfs*24 - pathogenic g.1411872G>C g.1361871G>C - - GNPTG_000041 - Journal: Gao 2011 - - Germline - - - - - Renata Voltolini Velho
+/+, +?/. 2 5 c.238_243del r.(?) p.(Lys80_Tyr81del) - likely pathogenic, pathogenic g.1411877_1411882del g.1361876_1361881del - - GNPTG_000043 VKGL data sharing initiative Nederland Journal: Schrader 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Renata Voltolini Velho
+/+ 1 5 c.243T>A r.(?) p.(Tyr81*) - pathogenic g.1411882T>A g.1361881T>A - - GNPTG_000046 - Journal: Wang 2018 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 5 c.244_247dup r.(?) p.(Phe83*) - pathogenic g.1411883_1411886dup g.1361882_1361885dup - - GNPTG_000047 - Journal: Velho 2014 - - De novo - - - - - Renata Voltolini Velho
-?/. 1 - c.255G>A r.(?) p.(Pro85=) - likely benign g.1411894G>A g.1361893G>A GNPTG(NM_032520.4):c.255G>A (p.P85=) - GNPTG_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 5 c.264C>T r.(?) p.(Asn88=) - benign, likely benign g.1411903C>T g.1361902C>T GNPTG(NM_032520.4):c.264C>T (p.N88=), GNPTG(NM_032520.5):c.264C>T (p.N88=) - GNPTG_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 1 5 c.285dup r.(?) p.(Phe96Leufs*32) - pathogenic g.1411924dup g.1361923dup - - GNPTG_000049 - Journal: Tüysüz 2018 - - Germline - - - - - Renata Voltolini Velho
?/. 1 - c.295A>G r.(?) p.(Asn99Asp) - VUS g.1411934A>G - GNPTG(NM_032520.4):c.295A>G (p.N99D) - GNPTG_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, ?/+ 2 5 c.316G>A r.(?) p.(Gly106Ser) - pathogenic g.1411955G>A g.1361954G>A - - GNPTG_000013 - Journal: Raas-Rothschild 2004, PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - rs137852885 Germline - 1/677 controls - - - Johan den Dunnen, Muhammad Raza
?/. 1 - c.317+4A>T r.spl? p.? - VUS g.1411960A>T - GNPTG(NM_032520.5):c.317+4A>T - GNPTG_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.318-18G>A r.(=) p.(=) - benign g.1412021G>A g.1362020G>A GNPTG(NM_032520.5):c.318-18G>A - GNPTG_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+, +/. 2 5i c.318-1G>C r.spl? p.? - pathogenic g.1412038G>C g.1362037G>C GNPTG(NM_032520.4):c.318-1G>C, IVS5-1G>C - GNPTG_000050 VKGL data sharing initiative Nederland Journal: Raas-Rothschild 2004 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Renata Voltolini Velho
+/+ 1 5i c.318-1G>G r.318_411del p.Val107Trpfs*24 - pathogenic g.1412038G>G - IVS5-1G>C - GNPTG_000077 1 more item PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 6 c.323G>A r.(?) p.(Trp108*) - pathogenic g.1412044G>A g.1362043G>A - - GNPTG_000082 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 6 c.324G>A r.(?) p.(Trp108*) - pathogenic g.1412045G>A g.1362044G>A - - GNPTG_000051 - Journal: Mistri 2018 - - Germline - - - - - Renata Voltolini Velho
+/+ 2 6 c.328G>T r.(?) p.(Glu110*) - pathogenic g.1412049G>T g.1362048G>T - - GNPTG_000048 - Journal: Velho 2014, Journal: Velho 2016 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 6 c.331T>C r.(?) p.(Trp111Arg) - pathogenic g.1412052T>C g.1362051T>C - - GNPTG_000052 - Journal: Oussoren 2018 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 6 c.333G>A r.(?) p.(Trp111*) - pathogenic g.1412054G>A g.1362053G>A - - GNPTG_000053 - Journal: Persichetti 2009 - - Germline - - - - - Renata Voltolini Velho
-/. 1 - c.339C>T r.(?) p.(Ile113=) - benign g.1412060C>T g.1362059C>T GNPTG(NM_032520.5):c.339C>T (p.I113=) - GNPTG_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.343A>T r.(?) p.(Asn115Tyr) - VUS g.1412064A>T - GNPTG(NM_032520.5):c.343A>T (p.(Asn115Tyr)) - GNPTG_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 2 6 c.347_349del r.(?) p.(Asn116del) - pathogenic (recessive) g.1412068_1412070del g.1362067_1362069del 347_349delACA - GNPTG_000037 - PubMed: Tiede 2004, Journal: Tiede 2004 - - Germline yes - - - - Johan den Dunnen
+/+ 1 6 c.367A>G r.(?) p.(Met123Val) - pathogenic g.1412088A>G g.1362087A>G - - GNPTG_000054 - Journal: Tüysüz 2018 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 6 c.376G>A r.(?) p.(Gly126Ser) - pathogenic g.1412097G>A g.1362096G>A - - GNPTG_000055 - Journal: Barea 2015 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 6 c.376G>C r.(?) p.(Gly126Arg) - pathogenic g.1412097G>C g.1362096G>C - - GNPTG_000045 - Journal: Wang 2018 - - Germline - - - - - Renata Voltolini Velho
+/+? 1 6 c.377G>A r.(?) p.(Gly126Asp) - pathogenic g.1412098G>A g.1362097G>A - - GNPTG_000087 - Journal: Gheldof 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+, +/. 2 6 c.379_391del r.(?) p.(Asp127Profs*31) - pathogenic g.1412100_1412112del g.1362099_1362111del 379 del13bp - GNPTG_000056, GNPTG_000079 - Journal: Raas-Rotschild 2004, PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - Johan den Dunnen, Renata Voltolini Velho
+?/. 1 6 c.388C>T r.(?) p.(Arg130Cys) - likely pathogenic g.1412109C>T g.1362108C>T - - GNPTG_000014 - - - - Germline yes 1/1013 patients - - - Muhammad Raza
?/. 1 6 c.401G>A r.(?) p.(Arg134Gln) - VUS g.1412122G>A g.1362121G>A - - GNPTG_000015 - - - - Germline no 1/677 controls - - - Muhammad Raza
+/+? 1 6i c.409+11_411+35del r.(=) p.(=) - pathogenic g.1412143_1412167del - c.411+11_411+35del - GNPTG_000057 1 more item Journal: Oussoren 2018 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 6i c.411+8_411+35del r.(=) p.Glu139Glyfs*75 - pathogenic g.1412140_1412168del - - - GNPTG_000076 1 more item - - - Germline - - - - - Renata Voltolini Velho
-/. 1 - c.412-17C>T r.(=) p.(=) - benign g.1412190C>T g.1362189C>T GNPTG(NM_032520.5):c.412-17C>T - GNPTG_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 7 c.425G>A r.(?) p.(Cys142Tyr) - pathogenic g.1412220G>A g.1362219G>A - - GNPTG_000058 - Journal: Liu 2014 - - Germline - - - - - Renata Voltolini Velho
+/+, +/. 2 7 c.445del r.(?), r.445del p.(Ala149Profs*13), p.Ala149Profs*13 - pathogenic g.1412240del g.1362239del 445delG - GNPTG_000059 - Journal: Raas-Rothschild 2004, PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline yes - - - - Johan den Dunnen, Renata Voltolini Velho
+?/. 1 7 c.450T>G r.(?) p.(His150Gln) - likely pathogenic g.1412245T>G g.1362244T>G - - GNPTG_000016 - - - rs147109185 Germline yes 1/1013 patients - - - Muhammad Raza
+/+ 1 7 c.471C>A r.(?) p.(Cys157*) - pathogenic g.1412266C>A g.1362265C>A - - GNPTG_000060 - Journal: Mistri 2018 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 7 c.471del r.(?) p.(Cys157Trpfs*5) - pathogenic g.1412266del g.1362265del - - GNPTG_000042 - Journal: Gao 2011 - - Germline - - - - - Renata Voltolini Velho
+?/., -?/. 3 7 c.472G>A r.(?) p.(Val158Ile) - likely benign, likely pathogenic g.1412267G>A g.1362266G>A GNPTG(NM_032520.5):c.472G>A (p.V158I) - GNPTG_000001 VKGL data sharing initiative Nederland - - rs138018487 CLASSIFICATION record, Germline, Unknown yes 1/677 controls, 4/1013 patients - - - Muhammad Raza, VKGL-NL_AMC
-/. 1 - c.477C>T r.(?) p.(Tyr159=) - benign g.1412272C>T g.1362271C>T GNPTG(NM_032520.5):c.477C>T (p.Y159=) - GNPTG_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 7 c.478_479insTAGG r.(?) p.(Ala160Valfs*40) - pathogenic g.1412273_1412274insTAGG g.1362272_1362273insTAGG - - GNPTG_000086 - Journal: Khan 2018 - - Germline yes - - - - Renata Voltolini Velho
?/. 1 - c.479C>A r.(?) p.(Ala160Glu) - VUS g.1412274C>A - GNPTG(NM_032520.5):c.479C>A (p.(Ala160Glu)) - GNPTG_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3 7 c.479C>T r.(?) p.(Ala160Val) - VUS g.1412274C>T g.1362273C>T GNPTG(NM_032520.5):c.479C>T (p.A160V) - GNPTG_000002 VKGL data sharing initiative Nederland - - rs374470431 CLASSIFICATION record, Germline, Unknown ? 1/1013 patients, 1/677 controls - - - Muhammad Raza, VKGL-NL_Groningen
?/. 1 - c.485C>T r.(?) p.(Thr162Met) - VUS g.1412280C>T - GNPTG(NM_032520.5):c.485C>T (p.(Thr162Met)) - GNPTG_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, +/., +?/. 5 7 c.499dup r.(?) p.(Leu167Profs*32) - likely pathogenic, pathogenic g.1412294dup g.1362293dup 500insC - GNPTG_000026 - Journal: Raas-Rothschild 2000, PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline, Germline/De novo (untested) yes 1/1013 patients - - - Johan den Dunnen, Muhammad Raza, Renata Voltolini Velho
+/+ 1 7 c.501dup r.(?) p.(Val168Argfs*31) - pathogenic g.1412296dup g.1362295dup 500insC - GNPTG_000061 - Journal: Raas-Tothschild 2004 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
?/. 3 7 c.502G>A r.(?) p.(Val168Ile) - VUS g.1412297G>A g.1362296G>A GNPTG(NM_032520.5):c.502G>A (p.V168I) - GNPTG_000025 VKGL data sharing initiative Nederland PubMed: Tiwari 2016 - rs190614894 CLASSIFICATION record, Germline no - - - - Muhammad Raza, VKGL-NL_AMC
?/. 1 7 c.508C>T r.(?) p.(His170Tyr) - VUS g.1412303C>T g.1362302C>T GNPTG(NM_032520.4):c.508C>T (p.H170Y) - GNPTG_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.512_513insGTGG r.(?) p.(His172Trpfs*28) - pathogenic g.1412307_1412308insGTGG g.1362306_1362307insGTGG - - GNPTG_000062 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 7 c.514dup r.(?) p.(His172Profs*27) - pathogenic g.1412309dup g.1362308dup - - GNPTG_000063 - Journal: Liu 2014 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
-?/. 1 - c.516C>T r.(?) p.(His172=) - likely benign g.1412311C>T - GNPTG(NM_032520.4):c.516C>T (p.H172=) - GNPTG_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7i c.527-10G>A r.526_527ins527-8_527-1 p.Val176Glyfs*19 - pathogenic g.1412443G>A g.1362442G>A IVS7-10G>A - GNPTG_000064 - Journal: Pohl 2010 - - Germline - - - - - Renata Voltolini Velho
?/. 1 8 c.551T>A r.(?) p.(Leu184Gln) - VUS g.1412477T>A g.1362476T>A GNPTG(NM_032520.5):c.551T>A (p.L184Q) - GNPTG_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 8 c.557G>A r.(?) p.(Arg186Gln) - likely pathogenic g.1412483G>A g.1362482G>A - - GNPTG_000024 - - - rs139997459 Germline yes 1/1013 patients - - - Muhammad Raza
?/. 1 - c.572T>C r.(?) p.(Val191Ala) - VUS g.1412498T>C - GNPTG(NM_032520.5):c.572T>C (p.V191A) - GNPTG_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 8 c.574G>C r.(?) p.(Glu192Gln) - likely pathogenic g.1412500G>C g.1362499G>C - - GNPTG_000023 - - - - Germline yes 1/1013 patients - - - Muhammad Raza
+/+ 1 8 c.607C>T r.(?) p.(Gln203*) - pathogenic g.1412533C>T g.1362532C>T - - GNPTG_000083 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 8 c.607del r.(?) p.(Gln203Argfs*7) - pathogenic g.1412533del g.1362532del - - GNPTG_000084 - - - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/. 1 8 c.607dup r.(?) p.(Gln203Profs*4) - pathogenic g.1412533dup g.1362532dup 608insC - GNPTG_000078 - PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - Johan den Dunnen
+/+ 1 8i c.609+1del r.spl? p.? - pathogenic g.1412536del g.1362535del IVS8+1deG - GNPTG_000044 - Journal: Wang 2018 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 8i c.609+1G>C r.spl? p.? - pathogenic g.1412536G>C g.1362535G>C - - GNPTG_000066 - Journal: Liu 2014 - - Germline - - - - - Renata Voltolini Velho
-?/. 1 - c.609+10C>T r.(=) p.(=) - likely benign g.1412545C>T - GNPTG(NM_032520.4):c.609+10C>T - GNPTG_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.609+27G>A r.(=) p.(=) - likely benign g.1412562G>A - GNPTG(NM_032520.5):c.609+27G>A - GNPTG_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 8i c.609+28_610-16del r.609_610ins[609+1_609+27;610-15_610-1] p.Gly204Valfs*17 - pathogenic g.1412563_1412596del g.1362562_1362595del - - GNPTG_000067 - Journal: Persichetti 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
-/. 1 8i c.610-20C>T r.(=) p.(=) - benign g.1412592C>T g.1362591C>T GNPTG(NM_032520.5):c.610-20C>T - GNPTG_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 8i c.610-2A>G r.[610_741del,c.609_742ins609+1_742-1] p.[Gly204_Lys247del,Gly204Valfs*28] - pathogenic g.1412610A>G g.1362609A>G - - GNPTG_000068 - Journal: Persochetti 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 8i c.610-1G>T r.[610_741del,609_610ins609+1_610-1, c.609_742ins609+1_742-1] p.[Gly204_Lys247del,Gly204Valfs*28] - pathogenic g.1412611G>T g.1362610G>T IVS8-1G>T - GNPTG_000069 - Journal: Encarnacao 2009 - - Germline - - - - - Renata Voltolini Velho
+/+ 1 9 c.611del r.(?) p.(Gly204Alafs*6) - pathogenic g.1412613del g.1362612del - - GNPTG_000070 - Journal: Persichetti 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
+/+ 1 9 c.619_620insT r.619_620insu p.Lys207Ilefs*8 - pathogenic g.1412621_1412622insT g.1362620_1362621insT c.619insT - GNPTG_000071 - Journal: Pohl 2009 - - Germline/De novo (untested) - - - - - Renata Voltolini Velho
-?/. 1 - c.631A>T r.(?) p.(Thr211Ser) - likely benign g.1412633A>T g.1362632A>T GNPTG(NM_032520.4):c.631A>T (p.(Thr211Ser)) - GNPTG_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 9 c.638_639del r.(?) p.(Phe213*) - pathogenic g.1412640_1412641del g.1362639_1362640del - - GNPTG_000072 1 more item Journal: Zrhidri 2017 - - Germline - - - - - Renata Voltolini Velho
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.