Full data view for gene GNPTG

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.

162 entries on 2 pages. Showing entries 1 - 100.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-5058C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4210C>T r.(?) p.(=) Unknown - likely benign g.1397757C>T - BAIAP3(NM_001199096.1):c.2852C>T (p.(Ala951Val)) - BAIAP3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3965G>A r.(?) p.(=) Unknown - VUS g.1398002G>A - BAIAP3(NM_001199097.2):c.3133G>A (p.(Asp1045Asn)) - BAIAP3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1855G>A r.(?) p.(=) Unknown - likely benign g.1400112G>A - TSR3(NM_001001410.2):c.650C>T (p.(Ala217Val)) - BAIAP3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-28G>A r.(?) p.(=) Unknown - VUS g.1401939G>A - GNPTG(NM_032520.5):c.-28G>A - BAIAP3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.5C>T r.(?) p.(Ala2Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.7G>A r.(?) p.(Ala3Thr) Unknown - likely pathogenic g.1401973G>A g.1351972G>A - - GNPTG_000003 - - - - Germline yes 2/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 2 Muhammad Raza
+?/. 1 c.8C>T r.(?) p.(Ala3Val) Unknown - likely pathogenic g.1401974C>T g.1351973C>T - - GNPTG_000004 - - - - Germline yes 2/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 2 Muhammad Raza
-?/. - c.11G>A r.(?) p.(Gly4Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11G>A r.(?) p.(Gly4Glu) Unknown - likely benign g.1401977G>A - GNPTG(NM_032520.4):c.11G>A (p.G4E, p.(Gly4Glu)) - BAIAP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.13del r.(?) p.(Leu5Trpfs*23) Unknown - pathogenic g.1401979del g.1351978del - - GNPTG_000038 - Journal: Wang 2018 - - Germline - - - - - DNA SEQ Blood - ML3C 37 Journal: Wang 2018 - M - China - 10y - - - 1 Renata Voltolini Velho
+?/. 1 c.15_23dup r.(?) p.(Ala6_Leu8dup) Unknown - likely pathogenic g.1401981_1401989dup g.1351980_1351988dup - - GNPTG_000005 - - - - Germline yes 1/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 1 Muhammad Raza
?/. 1 c.19C>T r.(?) p.(Arg7Trp) Unknown - VUS g.1401985C>T g.1351984C>T - - GNPTG_000006 - - - - Germline no 1/677 controls - - - DNA CSCE - - Healthy/Control - - - - - - - - - - - 1 Muhammad Raza
+/+ 1 c.26del r.(?) p.(Leu9Argfs*19) Unknown - pathogenic g.1401992del g.1351991del - - GNPTG_000080 - - - - Germline/De novo (untested) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.28T>G r.(?) p.(Leu10Val) Unknown - likely pathogenic g.1401994T>G g.1351993T>G - - GNPTG_000007 - - - - Germline yes 3/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 3 Muhammad Raza
-?/. - c.41T>C r.(?) p.(Leu14Pro) Unknown - likely benign g.1402007T>C - GNPTG(NM_032520.4):c.41T>C (p.L14P) - BAIAP3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+20G>A r.(=) p.(=) Unknown - benign g.1402038G>A g.1352037G>A GNPTG(NM_032520.5):c.52+20G>A - BAIAP3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.67G>C r.(?) p.(Gly23Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.74C>A r.(?) p.(Ala25Glu) Unknown - likely pathogenic g.1402124C>A g.1352123C>A - - GNPTG_000008 - - - rs137853826 Germline yes 2/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 2 Muhammad Raza
-?/. - c.74C>A r.(?) p.(Ala25Glu) Unknown - likely benign g.1402124C>A - GNPTG(NM_032520.4):c.74C>A (p.(Ala25Glu)) - GNPTG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.74C>G r.(?) p.(Ala25Gly) Unknown - likely pathogenic g.1402124C>G g.1352123C>G - - GNPTG_000009 - - - rs137853826 Germline yes 1/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 1 Muhammad Raza
+?/. 2 c.93G>C r.(?) p.(Glu31Asp) Unknown - likely pathogenic g.1402143G>C g.1352142G>C - - GNPTG_000010 - - - rs8052503 Germline yes 1/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 1 Muhammad Raza
-?/. - c.103G>A r.(?) p.(Ala35Thr) Unknown - likely benign g.1402153G>A - GNPTG(NM_032520.4):c.103G>A (p.(Ala35Thr)) - BAIAP3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.122_138del r.(?) p.(Pro41Glnfs*36) Unknown - pathogenic g.1402251_1402267del g.1352250_1352266del - - GNPTG_000039 - Journal: Oussoren 2018 - - Germline - - - - - DNA SEQ Fibroblasts g ML3C 5 Journal: Oussoren 2018 - M - Netherlands - 30y - - - 1 Renata Voltolini Velho
-?/. - c.154A>C r.(?) p.(Lys52Gln) Unknown - likely benign g.1402283A>C - GNPTG(NM_032520.4):c.154A>C (p.(Lys52Gln)) - BAIAP3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.161A>T r.(?) p.(Asp54Val) Unknown - likely pathogenic g.1402290A>T g.1352289A>T - - GNPTG_000011 - - - rs368478807 Germline yes 2/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 2 Muhammad Raza
?/. 3 c.161A>T r.(?) p.(Asp54Val) Unknown - 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161A>T r.(?) p.(Asp54Val) Unknown - likely benign g.1402290A>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183C>T r.(?) p.(=) Unknown - likely benign g.1411748C>T - GNPTG(NM_032520.5):c.183C>T (p.P61=) - GNPTG_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.190_193dup r.(?) p.(Phe65SerfsTer19) Both (homozygous) - likely pathogenic g.1411755_1411758dup g.1361754_1361757dup c.189_192dupTCTC - GNPTG_000107 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5444 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/+ 4 c.196C>T r.(?) p.(Arg66Ter) Unknown - 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.196C>T r.196c>u p.Arg66* Parent #1 - pathogenic g.1411761C>T g.1361760C>T - - GNPTG_000029 - PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ML 15060128-Pat8I PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - ? no Netherlands - - - - - 1 Renata Voltolini Velho
+/. - c.196C>T r.(?) p.(Arg66Ter) Unknown - 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196C>T r.(?) p.(Arg66Ter) Unknown - pathogenic g.1411761C>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.230C>A r.(?) p.(Ser77Tyr) Unknown - VUS g.1411795C>A g.1361794C>A - - GNPTG_000012 - - - - Germline no 2/677 controls - - - DNA CSCE - - Healthy/Control - - - - - - - - - - - 2 Muhammad Raza
+/+ 4i c.233+1G>A r.spl? p.? Unknown - pathogenic g.1411799G>A g.1361798G>A - - GNPTG_000081 - - - - Germline/De novo (untested) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4i c.233+5G>C r.spl? p.? Maternal (confirmed) - pathogenic g.1411803G>C g.1361802G>C - - GNPTG_000040 - - - - Germline - - - - - DNA, RNA SEQ Blood - ML3C - - - M - Chile - - - - - 1 Renata Voltolini Velho
-?/. - c.233+7G>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4i c.234-1G>C r.233_234ins233+1_233+74 p.Tyr79Thrfs*24 Maternal (confirmed) - pathogenic g.1411872G>C g.1361871G>C - - GNPTG_000041 - Journal: Gao 2011 - - Germline - - - - - DNA SEQ Blood - ML3C - Journal: Gao 2011 Chinese family, three affected siblings, two females at the age of 18 and 16 years, respectively, and a 11-year-old male, all had clinical and biochemical findings compatible with the diagnosis of ML III gamma. The patients' parents were healthy and had no blood-relationship. F no China - 16y - - - 1 Renata Voltolini Velho
+/+ 5 c.238_243del r.(?) p.(Lys80_Tyr81del) Both (homozygous) - pathogenic g.1411877_1411882del g.1361876_1361881del - - GNPTG_000043 - Journal: Schrader 2011 - - Germline - - - - - DNA SEQ-NG Blood - ML3C - Journal: Schrader 2011 performed exome sequencing of three affected individuals (nos 63, 83 and 104) and one obligate carrier (no. 94) to look for novel variants that were consistent with this pattern of inheritance in all individuals. ? - Canada - - - - - 1 Renata Voltolini Velho
+?/. - c.238_243del r.(?) p.(Lys80_Tyr81del) Unknown - likely pathogenic g.1411877_1411882del - - - GNPTG_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.243T>A r.(?) p.(Tyr81*) Unknown - pathogenic g.1411882T>A g.1361881T>A - - GNPTG_000046 - Journal: Wang 2018 - - Germline - - - - - DNA SEQ Blood - ML3C 38 Journal: Wang 2018 - M - China - 10y - - - 1 Renata Voltolini Velho
+/+ 5 c.244_247dup r.(?) p.(Phe83*) Maternal (confirmed) - pathogenic g.1411883_1411886dup g.1361882_1361885dup - - GNPTG_000047 - Journal: Velho 2014 - - De novo - - - - - DNA SEQ Blood, buccal cells and fibroblasts - ML3C - Journal: Velho 2014 - F no Brazil - 20y - - - 1 Renata Voltolini Velho
-?/. - c.255G>A r.(?) p.(Pro85=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.264C>T r.(?) p.(Asn88=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.264C>T r.(?) p.(Asn88=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.285dup r.(?) p.(Phe96Leufs*32) Unknown - pathogenic g.1411924dup g.1361923dup - - GNPTG_000049 - Journal: Tüysüz 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295A>G r.(?) p.(Asn99Asp) Unknown - VUS g.1411934A>G - GNPTG(NM_032520.4):c.295A>G (p.N99D) - GNPTG_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ 5 c.316G>A r.(?) p.(Gly106Ser) Unknown - pathogenic g.1411955G>A g.1361954G>A - - GNPTG_000013 - Journal: Raas-Rothschild 2004 - rs137852885 Germline - 1/677 controls - - - DNA CSCE - - Healthy/Control - - - - - - - - - - - 1 Muhammad Raza
+/+ 5 c.316G>A r.(?) p.(Gly106Ser) Both (homozygous) - pathogenic g.1411955G>A g.1361954G>A - - GNPTG_000013 - PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - DNA SEQ - - ML 15060128-Pat1 PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents ? yes Israel Druze - - - - 1 Johan den Dunnen
?/. - c.317+4A>T r.spl? p.? Unknown - VUS g.1411960A>T - GNPTG(NM_032520.5):c.317+4A>T - GNPTG_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.318-18G>A r.(=) p.(=) Unknown - benign g.1412021G>A g.1362020G>A GNPTG(NM_032520.5):c.318-18G>A - GNPTG_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5i c.318-1G>C r.spl? p.? Unknown - pathogenic g.1412038G>C g.1362037G>C IVS5-1G>C - GNPTG_000050 - Journal: Raas-Rothschild 2004 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.318-1G>C r.spl? p.? Unknown - pathogenic g.1412038G>C - GNPTG(NM_032520.4):c.318-1G>C - GNPTG_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5i c.318-1G>G r.318_411del p.Val107Trpfs*24 Parent #2 - pathogenic g.1412038G>G - IVS5-1G>C - GNPTG_000077 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ML 15060128-Pat8I PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - ? no Netherlands - - - - - 1 Renata Voltolini Velho
+/+ 6 c.323G>A r.(?) p.(Trp108*) Unknown - pathogenic g.1412044G>A g.1362043G>A - - GNPTG_000082 - - - - Germline/De novo (untested) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.324G>A r.(?) p.(Trp108*) Unknown - pathogenic g.1412045G>A g.1362044G>A - - GNPTG_000051 - Journal: Mistri 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.328G>T r.(?) p.(Glu110*) Paternal (confirmed) - pathogenic g.1412049G>T g.1362048G>T - - GNPTG_000048 - Journal: Velho 2014 - - Germline - - - - - DNA SEQ Blood, buccal cells and fibroblasts - ML3C - Journal: Velho 2014 - F no Brazil - 20y - - - 1 Renata Voltolini Velho
+/+ 6 c.328G>T r.(?) p.(Glu110*) Both (homozygous) - pathogenic g.1412049G>T g.1362048G>T - - GNPTG_000048 - Journal: Velho 2016 - - Germline - - - - - DNA SEQ Blood - ML3C Henn Journal: Velho 2016 Two adult patients, who were siblings and presented with clinical and biochemical diagnoses of ML III, were enrolled. M ? Brazil - 47y - - - 1 Renata Voltolini Velho
+/+ 6 c.331T>C r.(?) p.(Trp111Arg) Unknown - pathogenic g.1412052T>C g.1362051T>C - - GNPTG_000052 - Journal: Oussoren 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.333G>A r.(?) p.(Trp111*) Unknown - pathogenic g.1412054G>A g.1362053G>A - - GNPTG_000053 - Journal: Persichetti 2009 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.339C>T r.(?) p.(Ile113=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343A>T r.(?) p.(Asn115Tyr) Unknown - VUS g.1412064A>T - GNPTG(NM_032520.5):c.343A>T (p.(Asn115Tyr)) - GNPTG_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.347_349del r.(?) p.(Asn116del) Both (homozygous) - pathogenic (recessive) g.1412068_1412070del g.1362067_1362069del 347_349delACA - GNPTG_000037 - PubMed: Tiede 2004, Journal: Tiede 2004 - - Germline yes - - - - DNA SEQ - - ML patient 1 PubMed: Tiede 2004, Journal: Tiede 2004 2-generation family, 2 affected siblings, unaffected heterozygous carrier parents/relatives M - Germany - - - - - 2 Johan den Dunnen
+/+ 6 c.347_349del r.(?) p.(Asn116del) Both (homozygous) - pathogenic (recessive) g.1412068_1412070del g.1362067_1362069del 347_349delACA - GNPTG_000037 - PubMed: Tiede 2004, Journal: Tiede 2004 - - Germline yes - - - - DNA SEQ - - ML patient 2 PubMed: Tiede 2004, Journal: Tiede 2004 sister of patient 1 F no Germany - - - - - 1 Johan den Dunnen
+/+ 6 c.367A>G r.(?) p.(Met123Val) Unknown - pathogenic g.1412088A>G g.1362087A>G - - GNPTG_000054 - Journal: Tüysüz 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.376G>A r.(?) p.(Gly126Ser) Unknown - pathogenic g.1412097G>A g.1362096G>A - - GNPTG_000055 - Journal: Barea 2015 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.376G>C r.(?) p.(Gly126Arg) Unknown - pathogenic g.1412097G>C g.1362096G>C - - GNPTG_000045 - Journal: Wang 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+? 6 c.377G>A r.(?) p.(Gly126Asp) Unknown - pathogenic g.1412098G>A g.1362097G>A - - GNPTG_000087 - Journal: Gheldof 2018 - - Germline/De novo (untested) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.379_391del r.(?) p.(Asp127Profs*31) Unknown - pathogenic g.1412100_1412112del g.1362099_1362111del 379 del13bp - GNPTG_000056 - Journal: Raas-Rotschild 2004 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.379_391del r.(?) p.(Asp127Profs*31) Both (homozygous) - pathogenic g.1412100_1412112del g.1362099_1362111del 379 del13bp - GNPTG_000079 - PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - DNA SEQ - - ML 15060128-Pat7I PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents ? no Finland - - - - - 1 Johan den Dunnen
+?/. 6 c.388C>T r.(?) p.(Arg130Cys) Unknown - likely pathogenic g.1412109C>T g.1362108C>T - - GNPTG_000014 - - - - Germline yes 1/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 1 Muhammad Raza
?/. 6 c.401G>A r.(?) p.(Arg134Gln) Unknown - VUS g.1412122G>A g.1362121G>A - - GNPTG_000015 - - - - Germline no 1/677 controls - - - DNA CSCE - - Healthy/Control - - - - - - - - - - - 1 Muhammad Raza
+/+? 6i c.409+11_411+35del r.(=) p.(=) Unknown - pathogenic g.1412143_1412167del - c.411+11_411+35del - GNPTG_000057 The correction of the mutation was done by email contact with the authors. Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. Journal: Oussoren 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6i c.411+8_411+35del r.(=) p.Glu139Glyfs*75 Unknown - pathogenic g.1412140_1412168del - - - GNPTG_000076 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.412-17C>T r.(=) p.(=) Unknown - benign g.1412190C>T g.1362189C>T GNPTG(NM_032520.5):c.412-17C>T - GNPTG_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.425G>A r.(?) p.(Cys142Tyr) Unknown - pathogenic g.1412220G>A g.1362219G>A - - GNPTG_000058 - Journal: Liu 2014 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.445del r.445del p.Ala149Profs*13 Unknown - pathogenic g.1412240del g.1362239del - - GNPTG_000059 - Journal: Raas-Rothschild 2004 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.445del r.(?) p.(Ala149Profs*13) Both (homozygous) - pathogenic g.1412240del g.1362239del 445delG - GNPTG_000059 - PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline yes - - - - DNA SEQ - - ML 15060128-Pat6I/II PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives F yes Iran Jewish - - - - 2 Johan den Dunnen
+?/. 7 c.450T>G r.(?) p.(His150Gln) Unknown - likely pathogenic g.1412245T>G g.1362244T>G - - GNPTG_000016 - - - rs147109185 Germline yes 1/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 1 Muhammad Raza
+/+ 7 c.471C>A r.(?) p.(Cys157*) Unknown - pathogenic g.1412266C>A g.1362265C>A - - GNPTG_000060 - Journal: Mistri 2018 - - Germline/De novo (untested) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.471del r.(?) p.(Cys157Trpfs*5) Paternal (confirmed) - pathogenic g.1412266del g.1362265del - - GNPTG_000042 - Journal: Gao 2011 - - Germline - - - - - DNA SEQ Blood - ML3C - Journal: Gao 2011 Chinese family, three affected siblings, two females at the age of 18 and 16 years, respectively, and a 11-year-old male, all had clinical and biochemical findings compatible with the diagnosis of ML III gamma. The patients' parents were healthy and had no blood-relationship. F no China - 16y - - - 1 Renata Voltolini Velho
+?/. 7 c.472G>A r.(?) p.(Val158Ile) Unknown - likely pathogenic g.1412267G>A g.1362266G>A - - GNPTG_000001 - - - rs138018487 Germline yes 4/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 4 Muhammad Raza
+?/. 7 c.472G>A r.(?) p.(Val158Ile) Unknown - likely pathogenic g.1412267G>A g.1362266G>A - - GNPTG_000001 - - - rs138018487 Unknown - 1/677 controls - - - DNA CSCE - - Healthy/Control - - - - - - - - - - - 1 Muhammad Raza
-?/. 7 c.472G>A r.(?) p.(Val158Ile) Unknown - likely benign g.1412267G>A g.1362266G>A GNPTG(NM_032520.5):c.472G>A (p.V158I) - GNPTG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477C>T r.(?) p.(Tyr159=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.478_479insTAGG r.(?) p.(Ala160Valfs*40) Both (homozygous) - pathogenic g.1412273_1412274insTAGG g.1362272_1362273insTAGG - - GNPTG_000086 - Journal: Khan 2018 - - Germline yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479C>A r.(?) p.(Ala160Glu) Unknown - VUS g.1412274C>A - GNPTG(NM_032520.5):c.479C>A (p.(Ala160Glu)) - GNPTG_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.479C>T r.(?) p.(Ala160Val) Unknown - VUS g.1412274C>T g.1362273C>T - - GNPTG_000002 - - - rs374470431 Germline ? 1/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 1 Muhammad Raza
?/. 7 c.479C>T r.(?) p.(Ala160Val) Unknown - VUS g.1412274C>T g.1362273C>T - - GNPTG_000002 - - - rs374470431 Unknown - 1/677 controls - - - DNA CSCE - - Healthy/Control - - - - - - - - - - - 1 Muhammad Raza
?/. - c.479C>T r.(?) p.(Ala160Val) Unknown - VUS g.1412274C>T - GNPTG(NM_032520.5):c.479C>T (p.A160V) - GNPTG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.485C>T r.(?) p.(Thr162Met) Unknown - VUS g.1412280C>T - GNPTG(NM_032520.5):c.485C>T (p.(Thr162Met)) - GNPTG_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.499dup r.(?) p.(Leu167Profs*32) Unknown - likely pathogenic g.1412294dup g.1362293dup - - GNPTG_000026 - - - - Germline yes 1/1013 patients - - - DNA CSCE - - STUT2 - - - - - - - - - - - 1 Muhammad Raza
+/+ 7 c.499dup r.(?) p.(Leu167Profs*32) Unknown - pathogenic g.1412294dup g.1362293dup - - GNPTG_000026 - Journal: Raas-Rothschild 2000 - - Germline/De novo (untested) - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.499dup r.(?) p.(Leu167Profs*32) Both (homozygous) - pathogenic g.1412294dup g.1362293dup 500insC - GNPTG_000026 - PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - DNA SEQ - - ML 15060128-Pat2I/II PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives M yes Tunisia Jewish - - - - 2 Johan den Dunnen
+/. 7 c.499dup r.(?) p.(Leu167Profs*32) Both (homozygous) - pathogenic g.1412294dup g.1362293dup 500insC - GNPTG_000026 - PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline yes - - - - DNA SEQ - - ML 15060128-Pat3 PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Tunisia Jewish - - - - 1 Johan den Dunnen
+/. 7 c.499dup r.(?) p.(Leu167Profs*32) Both (homozygous) - pathogenic g.1412294dup g.1362293dup 500insC - GNPTG_000026 - PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - DNA SEQ - - ML 15060128-Pat4I/II PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives M yes Tunisia Jewish - - - - 2 Johan den Dunnen
+/+ 7 c.501dup r.(?) p.(Val168Argfs*31) Unknown - pathogenic g.1412296dup g.1362295dup 500insC - GNPTG_000061 - Journal: Raas-Tothschild 2004 - - Germline/De novo (untested) - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.502G>A r.(?) p.(Val168Ile) Unknown - VUS g.1412297G>A g.1362296G>A - - GNPTG_000025 - - - rs190614894 Germline no - - - - DNA CSCE - - STUT2 - - - - - - - - - - - 1 Muhammad Raza
?/. - c.502G>A r.(?) p.(Val168Ile) Unknown - VUS g.1412297G>A g.1362296G>A GNPTG(NM_032520.5):c.502G>A (p.V168I) - GNPTG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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