Full data view for gene TMEM127

Information The variants shown are described using the NM_017849.3 transcript reference sequence.

116 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.-1997T>C r.(?) p.(=) Unknown - VUS g.96933472A>G - CIAO1(NM_004804.2):c.398A>G (p.E133G) - CIAO1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1695G>C r.(?) p.(=) Unknown - VUS g.96933170C>G g.96267432C>G CIAO1(NM_004804.2):c.251C>G (p.T84S) - CIAO1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-59C>T r.(?) p.(=) Unknown - likely benign g.96931178G>A - - - CIAO1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? - c.-18C>T r.(=) p.(=) Unknown - likely pathogenic g.96931137G>A g.96265399G>A - - TMEM127_000037 - - - rs121908813 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Yao 2010 - M - United Kingdom (Great Britain) - - - - - 1 Gustavo Armaiz-Pena
?/? - c.-2G>T r.(=) p.(=) Unknown - VUS g.96931121C>A g.96265383C>A - - TMEM127_000055 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Lefebvre 2012 - ? - - - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.3G>A r.(?) p.(Met1?) Unknown - VUS g.96931117C>T g.96265379C>T - - TMEM127_000056 - - - rs121908814 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - United States - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.3G>A r.(?) p.(Met1?) Unknown - VUS g.96931117C>T g.96265379C>T - - TMEM127_000056 - - - rs121908814 Germline - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - M - United States - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.3G>A r.(?) p.(Met1?) Unknown - VUS g.96931117C>T g.96265379C>T - - TMEM127_000056 - - - rs121908814 Germline - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - Germany - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.3G>A r.(?) p.(Met1?) Unknown - VUS g.96931117C>T g.96265379C>T - - TMEM127_000056 - - - rs121908814 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - - - (United States) - - - - - 1 Gustavo Armaiz-Pena
+/+ 2 c.3G>T r.(?) p.0? Parent #1 - pathogenic g.96931117C>A g.96265379C>A Met1? - TMEM127_000007 LOH wt allele in tumor PubMed: Yao 2010 - - Germline - - - - - DNA PCR, SEQ - - pheochromocytoma 2_PD PubMed: Yao 2010 - F - United States - - - - - 1 Shahida Flores
?/. - c.26T>G r.(?) p.(Leu9Arg) Unknown - VUS g.96931094A>C - - - CIAO1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.30del r.(?) p.(Gly11Alafs*70) Unknown - pathogenic g.96931092del - TMEM127(NM_017849.4):c.30delC (p.G11Afs*70) - CIAO1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.38G>A r.(?) p.(Arg13His) Unknown - likely benign g.96931082C>T g.96265344C>T TMEM127(NM_017849.4):c.38G>A (p.R13H) - TMEM127_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.67C>A r.(?) p.(Leu23Met) Unknown - VUS g.96931053G>T g.96265315G>T - - TMEM127_000040 - - - rs749807415 De novo - - - - - DNA SEQ - - ES - Journal: King 2015 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.73A>T r.(?) p.(Lys25*) Unknown - VUS g.96931047T>A g.96265309T>A - - TMEM127_000057 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - M - Germany - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.73A>T r.(?) p.(Lys25*) Unknown - VUS g.96931047T>A g.96265309T>A - - TMEM127_000057 - - - - Unknown - - - - - DNA SEQ - - pheochromocytoma - PubMed: Flinn 2016 - - - - - - - - - 1 Gustavo Armaiz-Pena
+?/+? - c.76C>T r.(?) p.(Gln26*) Unknown - likely pathogenic g.96931044G>A g.96265306G>A - - TMEM127_000038 - - - rs121908815 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Yao 2010 - F - Italy - - - - - 1 Gustavo Armaiz-Pena
+?/. - c.86del r.(?) p.(Arg29Leufs*52) Paternal (inferred) - pathogenic (dominant) g.96931034del g.96265296del 86delG - TMEM127_000088 - Journal: Fernández-Pombo2019 - - Germline yes - - - - DNA SEQ-NG-I Blood - pheochromocytoma - Journal: Fernández-Pombo2019 3-generation family, affected mother and 2 unaffected carrier children (9y, 6y) F no Spain white 40y - - - 1 David Araujo-Vilar
?/? - c.112G>A r.(?) p.(Ala38Thr) Unknown - VUS g.96931008C>T g.96265270C>T - - TMEM127_000058 - - - - Unknown - - - - - DNA SEQ - - PGL - PubMed: Gupta 2017 - ? - - - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.113C>A r.(?) p.(Ala38Asp) Unknown - VUS g.96931007G>T g.96265269G>T - - TMEM127_000059 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Lefebvre 2012 - ? - - - - - - - 1 Gustavo Armaiz-Pena
?/? - c.113C>T r.(?) p.(Ala38Val) Unknown - VUS g.96931007G>A g.96265269G>A - - TMEM127_000060 - - - - Unknown - - - - - DNA SEQ - - PGL - PubMed: Gupta 2017 - ? - - - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.117_120del r.(?) p.(Ile41Argfs*39) Unknown - VUS g.96931002_96931005del g.96265264_96265267del 166_119delTGTC - TMEM127_000041 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Yao 2010 - F - Brazil - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.117_120del r.(?) p.(Ile41Argfs*39) Unknown - VUS g.96931002_96931005del g.96265264_96265267del 166_119delTGTC - TMEM127_000041 - - - - Unknown - - - - - DNA SEQ - - pheochromocytoma - PubMed: Papathomas 2015 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.117_120del r.(?) p.(Ile41Argfs*39) Unknown - VUS g.96931002_96931005del g.96265264_96265267del 166_119delTGTC - TMEM127_000041 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Takeichi 2012 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.117_120del r.(?) p.(Ile41Argfs*39) Unknown - VUS g.96931002_96931005del g.96265264_96265267del 166_119delTGTC - TMEM127_000041 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Takeichi 2012 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.117_120del r.(?) p.(Ile41Argfs*39) Unknown - VUS g.96931002_96931005del g.96265264_96265267del 166_119delTGTC - TMEM127_000041 - - - - Unknown - - - - - DNA SEQ - - pheochromocytoma - PubMed: Papathomas 2015 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/? - c.131T>G r.(?) p.(Leu44Arg) Unknown - VUS g.96930989A>C g.96265251A>C - - TMEM127_000061 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - Poland - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.140C>A r.(?) p.(Ala47Asp) Unknown - VUS g.96930980G>T g.96265242G>T - - TMEM127_000062 Loss of heterozygosity - - - Germline - - - - - DNA SEQ - - pheochromocytoma - PubMed: Burnichon 2012 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.150_151insA r.(?) p.(Pro51Thrfs*57) Unknown - VUS g.96930969_96930970insT g.96265231_96265232insT - - TMEM127_000042 Loss of heterozygosity - - - Unknown - - - - - DNA SEQ - - pheochromocytoma - PubMed: Qin 2010 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.154G>T r.(?) p.(Ala52Ser) Unknown - VUS g.96930966C>A g.96265228C>A - - TMEM127_000063 - - - - De novo - - - - - DNA SEQ - - PGL - PubMed: Hamidi 2017 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.158G>C r.(?) p.(Trp53Ser) Unknown - VUS g.96930962C>G g.96265224C>G - - TMEM127_000039 Loss of heterogenozygosity - - rs121908818 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Yao 2010 - M - Italy - - - - - 1 Gustavo Armaiz-Pena
?/. - c.187C>T r.(?) p.(Arg63Cys) Unknown - VUS g.96930933G>A g.96265195G>A TMEM127(NM_017849.4):c.187C>T (p.R63C) - CIAO1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ - c.190_191dup r.(?) p.(Gln64Hisfs*18) Unknown - VUS g.96930929_96930930dup g.96265191_96265192dup - - TMEM127_000064 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Abermil 2012 - F - - - - - - - 1 Gustavo Armaiz-Pena
-?/. - c.191A>G r.(?) p.(Gln64Arg) Unknown - likely benign g.96930929T>C - - - CIAO1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ - c.202del r.(?) p.(Val68Serfs*13) Unknown - VUS g.96930922del g.96265184del 202delG - TMEM127_000065 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Abermil 2012 - F - - - - - - - 1 Gustavo Armaiz-Pena
+?/. 2 c.208G>A r.(?) p.(Asp70Asn) Unknown - likely pathogenic g.96930912C>T g.96265174C>T - - TMEM127_000006 - PubMed: Yao 2010 - - Germline - - - - - DNA SEQ - - pheochromocytoma 9_PD PubMed: Yao 2010 - F - United States - - - - - 1 Shahida Flores
?/+? - c.208G>A r.(?) p.(Asp70Asn) Unknown - VUS g.96930912C>T g.96265174C>T - - TMEM127_000006 - - - rs121908819 De novo - - - - - DNA SEQ - - RCC - PubMed: Qin 2010 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.215T>A r.(?) p.(Leu72*) Unknown - VUS g.96930905A>T g.96265167A>T - - TMEM127_000066 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - Germany - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.217G>C r.(?) p.(Gly73Arg) Unknown - VUS g.96930903C>G g.96265165C>G - - TMEM127_000043 - - - rs121908820 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Yao 2010 - - - Italy - - - - - 1 Gustavo Armaiz-Pena
?/? - c.221A>C r.(?) p.(Tyr74Ser) Unknown - VUS g.96930899T>G g.96265161T>G - - TMEM127_000067 - - - rs747804736 Unknown - - - - - DNA SEQ - - pheochromocytoma - PubMed: Papathomas 2015 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.222T>A r.(?) p.(Tyr74*) Unknown - VUS g.96930898A>T g.96265160A>T - - TMEM127_000068 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Casey 2017 - M - - - - - - - 1 Gustavo Armaiz-Pena
+?/+ - c.245-1G>T r.spl? p.? Unknown - likely pathogenic g.96920736C>A g.96254998C>A - - TMEM127_000044 Loss of heterozygosity - - rs121908821 Germline - - - - - DNA SEQ - - pheochromocytoma - PubMed: Qin 2010 - F - - - - - - - 1 Gustavo Armaiz-Pena
+/+ - c.248del r.(?) p.(Phe83Serfs*3) Unknown - pathogenic g.96920734del g.96254996del 248delT - TMEM127_000069 - - - rs587781773 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Fishbein 2017 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/? - c.259C>T r.(?) p.(Pro87Ser) Unknown - VUS g.96920721G>A g.96254983G>A - - TMEM127_000070 - - - - Unknown - - - - - DNA SEQ - - RCC - PubMed: Gupta 2017 - ? - - - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.265_268del r.(?) p.(Thr89Cysfs*34) Unknown - VUS g.96920715_96920718del g.96254977_96254980del - - TMEM127_000045 Loss of heterozygosity - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Qin 2010 - M - - - - - - - 1 Gustavo Armaiz-Pena
-?/. - c.268G>A r.(?) p.(Val90Met) Unknown - likely benign g.96920712C>T g.96254974C>T TMEM127(NM_017849.4):c.268G>A (p.V90M) - TMEM127_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.268G>A r.(?) p.(Val90Met) Unknown - VUS g.96920712C>T g.96254974C>T - - TMEM127_000021 - - - rs121908823 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Qin 2010 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/? - c.268G>A r.(?) p.(Val90Met) Unknown - VUS g.96920712C>T g.96254974C>T - - TMEM127_000021 - - - rs121908823 De novo - - - - - DNA SEQ - - PMA - Journal: King 2015 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/? - c.268G>A r.(?) p.(Val90Met) Unknown - VUS g.96920712C>T g.96254974C>T - - TMEM127_000021 - - - rs121908823 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Abermil 2012 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/? - c.268G>A r.(?) p.(Val90Met) Unknown - VUS g.96920712C>T g.96254974C>T - - TMEM127_000021 - - - rs121908823 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Lefebvre 2012 - ? - - - - - - - 1 Gustavo Armaiz-Pena
-?/. - c.268G>A r.(?) p.(Val90Met) Unknown - likely benign g.96920712C>T - TMEM127(NM_017849.4):c.268G>A (p.V90M) - TMEM127_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.280C>T r.(?) p.(Arg94Trp) Unknown - likely pathogenic g.96920700G>A g.96254962G>A - - TMEM127_000005 tumor DNA not tested for LOH of wild-type allele PubMed: Yao 2010 - - Germline - - - - - DNA SEQ - - pheochromocytoma 15_PD PubMed: Yao 2010 - F - United States - - - - - 1 Shahida Flores
+?/. 3 c.308del r.(?) p.(Gly103Alafs*21) Unknown - likely pathogenic g.96920674del g.96254936del 308delG - TMEM127_000004 - - - - Germline - - - - - DNA SEQ Blood - pheochromocytoma, RCC 25800244-FamProband PubMed: Hernandez 2015, Journal: Hernandez 2015 2-generation family, affected mother and 3 heterozygous carrier sons F ? Canada - - - - left adrenalectomy and partial nephrectomy 4 Shahida Flores
+?/+ - c.308del r.(?) p.(Gly103Alafs*21) Unknown - likely pathogenic g.96920674del g.96254936del 308delG - TMEM127_000071 - - - rs727503490 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Hernandez 2015 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.319_321del r.(?) p.(Ser107del) Unknown - VUS g.96920661_96920663del g.96254923_96254925del - - TMEM127_000035 - - - - Unknown - - - - - DNA SEQ - - pheochromocytoma - PubMed: Papathomas 2015 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.325T>C r.(?) p.(Ser109Pro) Unknown - VUS g.96920655A>G g.96254917A>G - - TMEM127_000072 - - - - De novo - - - - - DNA SEQ - - PGL - PubMed: Bausch 2017 - F - Germany - - - - - 1 Gustavo Armaiz-Pena
?/? - c.353C>T r.(?) p.(Pro118Leu) Unknown - VUS g.96920627G>A g.96254889G>A - - TMEM127_000046 - - - rs769359648 De novo - - - - - DNA SEQ - - RCC - PubMed: Qin 2014 - M - - - - - - - 1 Gustavo Armaiz-Pena
?/? - c.377C>T r.(?) p.(Thr126Ile) Unknown - VUS g.96920603G>A g.96254865G>A - - TMEM127_000047 - - - rs775944671 De novo - - - - - DNA SEQ - - RCC - PubMed: Qin 2014 - F - - - - - - - 1 Gustavo Armaiz-Pena
+?/. - c.398A>G r.(?) p.(His133Arg) Unknown - likely pathogenic g.96920582T>C g.96254844T>C TMEM127(NM_017849.3):c.398A>G (p.H133R), TMEM127(NM_017849.4):c.398A>G (p.H133R) - TMEM127_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.398A>G r.(?) p.(His133Arg) Unknown - likely pathogenic g.96920582T>C g.96254844T>C TMEM127(NM_017849.3):c.398A>G (p.H133R), TMEM127(NM_017849.4):c.398A>G (p.H133R) - TMEM127_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.398A>G r.(?) p.(His133Arg) Unknown - likely pathogenic g.96920582T>C - TMEM127(NM_017849.3):c.398A>G (p.H133R), TMEM127(NM_017849.4):c.398A>G (p.H133R) - TMEM127_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.407C>T r.(?) p.(Thr136Met) Unknown - VUS g.96920573G>A g.96254835G>A - - TMEM127_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>T r.(?) p.(Thr136=) Unknown - likely benign g.96920572C>A g.96254834C>A TMEM127(NM_017849.4):c.408G>T (p.T136=) - TMEM127_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ - c.409+1G>T r.spl? p.? Unknown - VUS g.96920570C>A g.96254832C>A - - TMEM127_000048 - - - - Germline - - - - - DNA SEQ - - pheochromocytoma - PubMed: Yao 2010 - F - Spain - - - - - 1 Gustavo Armaiz-Pena
-?/. - c.409+7C>T r.(=) p.(=) Unknown - likely benign g.96920564G>A g.96254826G>A TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T - TMEM127_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.409+7C>T r.(=) p.(=) Unknown - benign g.96920564G>A g.96254826G>A TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T - TMEM127_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.409+7C>T r.(=) p.(=) Unknown - benign g.96920564G>A g.96254826G>A TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T - TMEM127_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.409+7C>T r.(=) p.(=) Unknown - likely benign g.96920564G>A g.96254826G>A TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T - TMEM127_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.409+7C>T r.(=) p.(=) Unknown - likely benign g.96920564G>A - TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T - TMEM127_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.409+137C>T r.(?) p.(?) Unknown - likely benign g.96920434G>A - - - TMEM127_000090 - - - rs150996178 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i c.410-2A>C r.410_417del p.Leu138Cysfs*12 Maternal (inferred) - pathogenic g.96919855T>G g.96254117T>G NG_027695.1:g.16897A>C - TMEM127_000003 {CVvar:107} PubMed: Qin 2010 - rs121908826 Germline yes - - - - DNA, RNA RFLP, RT-PCR, SEQ, Western tumor (pheochromcoytoma) - pheochromocytoma - PubMed: Qin 2010 - F no - white - - yes surgery 1 Patricia Dahia
?/+ - c.410-2A>C r.spl? p.? Unknown - VUS g.96919855T>G g.96254117T>G - - TMEM127_000003 Loss of heterozygosity - - - Germline - - - - - DNA SEQ - - pheochromocytoma - PubMed: Qin 2010 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.410-2A>C r.spl? p.? Unknown - VUS g.96919855T>G g.96254117T>G - - TMEM127_000003 Loss of heterozygosity - - - Germline - - - - - DNA SEQ - - pheochromocytoma - PubMed: Qin 2010 - F - - - - - - - 1 Gustavo Armaiz-Pena
+?/. - c.410-2A>G r.spl? p.? Unknown - likely pathogenic g.96919855T>C g.96254117T>C TMEM127(NM_001193304.3):c.410-2A>G, TMEM127(NM_017849.4):c.410-2A>G - TMEM127_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.410-2A>G r.spl? p.? Unknown - pathogenic g.96919855T>C g.96254117T>C TMEM127(NM_001193304.3):c.410-2A>G, TMEM127(NM_017849.4):c.410-2A>G - TMEM127_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.410-2A>G r.spl? p.? Unknown - likely pathogenic g.96919855T>C - TMEM127(NM_001193304.3):c.410-2A>G, TMEM127(NM_017849.4):c.410-2A>G - TMEM127_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ - c.410-1G>C r.spl? p.? Unknown - VUS g.96919854C>G g.96254116C>G - - TMEM127_000073 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - M - Germany - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.413T>G r.(?) p.(Leu138Arg) Unknown - VUS g.96919850A>C g.96254112A>C - - TMEM127_000074 - - - - De novo - - - - - DNA SEQ - - PGL - PubMed: Bausch 2017 - M - Germany - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.415C>T r.(?) p.(Gln139*) Unknown - VUS g.96919848G>A g.96254110G>A - - TMEM127_000075 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Elston 2013 - M - - - - - - - 1 Gustavo Armaiz-Pena
+?/+ - c.418T>C r.(?) p.(Cys140Arg) Unknown - likely pathogenic g.96919845A>G g.96254107A>G - - TMEM127_000049 - - - rs121908827 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Yao 2010 - F - Belgium - - - - - 1 Gustavo Armaiz-Pena
+?/+ - c.418T>C r.(?) p.(Cys140Arg) Unknown - likely pathogenic g.96919845A>G g.96254107A>G - - TMEM127_000049 - - - rs121908827 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Lefebvre 2012 - ? - - - - - - - 1 Gustavo Armaiz-Pena
+?/+ - c.419G>A r.(?) p.(Cys140Tyr) Unknown - likely pathogenic g.96919844C>T g.96254106C>T - - TMEM127_000050 - - - rs121908828 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Yao 2010 - M - Italy - - - - - 1 Gustavo Armaiz-Pena
+?/+ - c.419G>A r.(?) p.(Cys140Tyr) Unknown - likely pathogenic g.96919844C>T g.96254106C>T - - TMEM127_000050 - - - rs121908828 Unknown - - - - - DNA SEQ - - pheochromocytoma - PubMed: Patocs 2016 - ? - - - - - - - 1 Gustavo Armaiz-Pena
+?/+ - c.419G>A r.(?) p.(Cys140Tyr) Unknown - likely pathogenic g.96919844C>T g.96254106C>T - - TMEM127_000050 - - - rs121908828 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - Hungary - - - - - 1 Gustavo Armaiz-Pena
+?/+ - c.447G>A r.(?) p.(Trp149*) Unknown - likely pathogenic g.96919816C>T g.96254078C>T - - TMEM127_000051 - - - rs121908829 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Yao 2010 - F - Italy - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.462C>G r.(?) p.(Ile154Met) Unknown - VUS g.96919801G>C g.96254063G>C - - TMEM127_000076 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - - - Germany - - - - - 1 Gustavo Armaiz-Pena
+/+ - c.464T>A r.(?) p.(Leu155*) Unknown - pathogenic g.96919799A>T g.96254061A>T - - TMEM127_000077 - - - rs886039439 Unknown - - - - - DNA SEQ - - pheochromocytoma - PubMed: Patocs 2016 - ? - - - - - - - 1 Gustavo Armaiz-Pena
+/+ - c.464T>A r.(?) p.(Leu155*) Unknown - pathogenic g.96919799A>T g.96254061A>T - - TMEM127_000077 - - - rs886039439 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - Hungary - - - - - 1 Gustavo Armaiz-Pena
+/+ - c.469C>T r.(?) p.(Gln157*) Unknown - pathogenic g.96919794G>A g.96254056G>A - - TMEM127_000078 - - - rs780133289 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Lefebvre 2012 - - - - - - - - - 1 Gustavo Armaiz-Pena
+/+ - c.469C>T r.(?) p.(Gln157*) Unknown - pathogenic g.96919794G>A g.96254056G>A - - TMEM127_000078 - - - rs780133289 De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Abermil 2012 - M - - - - - - - 1 Gustavo Armaiz-Pena
+/+ - c.475C>T r.(?) p.(Gln159*) Unknown - pathogenic g.96919788G>A g.96254050G>A - - TMEM127_000052 Loss of heterozygosity - - rs121908830 Germline - - - - - DNA SEQ - - pheochromocytoma - PubMed: Qin 2010 - F - - - - - - - 1 Gustavo Armaiz-Pena
+/. - c.475C>T r.(?) p.(Gln159*) Parent #1 - pathogenic g.96919788G>A g.96254050G>A - - TMEM127_000052 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908830 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/+ - c.492C>G r.(?) p.(Tyr164*) Unknown - VUS g.96919771G>C g.96254033G>C - - TMEM127_000079 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Abermil 2012 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.518T>C r.(?) p.(Phe173Ser) Unknown - VUS g.96919745A>G g.96254007A>G - - TMEM127_000080 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - Germany - - - - - 1 Gustavo Armaiz-Pena
?/. - c.522C>T r.(?) p.(Ala174=) Unknown - VUS g.96919741G>A g.96254003G>A TMEM127(NM_017849.3):c.522C>T (p.A174=), TMEM127(NM_017849.4):c.522C>T (p.A174=) - TMEM127_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522C>T r.(?) p.(Ala174=) Unknown - likely benign g.96919741G>A - TMEM127(NM_017849.3):c.522C>T (p.A174=), TMEM127(NM_017849.4):c.522C>T (p.A174=) - TMEM127_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ - c.532dup r.(?) p.(Tyr178Leufs*48) Unknown - VUS g.96919731dup g.96253993dup - - TMEM127_000053 Loss of heterozygosity - - - Germline - - - - - DNA SEQ - - pheochromocytoma - Journal: Deng 2017 - F - - - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.532dup r.(?) p.(Tyr178Leufs*48) Unknown - VUS g.96919731dup g.96253993dup - - TMEM127_000053 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - Poland - - - - - 1 Gustavo Armaiz-Pena
?/+ - c.543_555dup r.(?) p.(Ala186Argfs*44) Unknown - VUS g.96919708_96919720dup g.96253970_96253982dup - - TMEM127_000081 - - - - Germline - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - Israel - - - - - 1 Gustavo Armaiz-Pena
?/+? - c.553G>A r.(?) p.(Gly185Arg) Unknown - VUS g.96919710C>T g.96253972C>T - - TMEM127_000082 - - - - De novo - - - - - DNA SEQ - - pheochromocytoma - PubMed: Bausch 2017 - F - Turkey - - - - - 1 Gustavo Armaiz-Pena
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