Full data view for gene MET

Information The variants shown are described using the NM_001127500.1 transcript reference sequence.

313 entries on 4 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.? r.(?) p.(Ala119Val) Unknown - VUS g.? - - - EZH2_000001 - PubMed: Heidet 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K95 PubMed: Heidet 2017 fetus - - France - - 0 - - 1 Johan den Dunnen
-/. - c.-14-4G>A r.spl? p.? Unknown - benign g.116339121G>A g.116699067G>A MET(NM_000245.4):c.-14-4G>A, MET(NM_001127500.1):c.-14-4G>A - MET_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14-4G>A r.spl? p.? Unknown - benign g.116339121G>A g.116699067G>A MET(NM_000245.4):c.-14-4G>A, MET(NM_001127500.1):c.-14-4G>A - MET_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.-7T>C r.(?) p.(=) Parent #1 - likely benign g.116339132T>C g.116699078T>C - - MET_000192 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.36C>T r.(?) p.(Leu12=) Unknown - likely benign g.116339174C>T g.116699120C>T MET(NM_001127500.1):c.36C>T (p.L12=) - MET_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.36C>T r.(=) p.(=) Parent #1 - likely benign g.116339174C>T g.116699120C>T - - MET_000167 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 2 c.40C>T r.(?) p.(Leu14Phe) Parent #1 - VUS g.116339178C>T g.116699124C>T - - MET_000193 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.65G>T r.(?) p.(Ser22Ile) Parent #1 - VUS g.116339203G>T g.116699149G>T - - MET_000194 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.71G>A r.(?) p.(Gly24Glu) Parent #1 - VUS g.116339209G>A g.116699155G>A - - MET_000195 - MORL Deafness Variation Database, PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Finegold 2008, PubMed: Amendola 2015 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Finegold 2008, PubMed: Amendola 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.71G>A r.(?) p.(Gly24Glu) Unknown - likely benign g.116339209G>A g.116699155G>A - - MET_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.103A>T r.(?) p.(Met35Leu) Parent #1 - VUS g.116339241A>T g.116699187A>T - - MET_000196 - MORL Deafness Variation Database, PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.109G>T r.(?) p.(Val37Leu) Parent #1 - VUS g.116339247G>T g.116699193G>T - - MET_000197 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.110T>C r.(?) p.(Val37Ala) Unknown - likely benign g.116339248T>C g.116699194T>C MET(NM_001127500.1):c.110T>C (p.V37A) - MET_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.114T>A r.(?) p.(Asn38Lys) Parent #1 - VUS g.116339252T>A g.116699198T>A - - MET_000198 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.141C>T r.(?) p.(=) Parent #1 - likely benign g.116339279C>T g.116699225C>T - - MET_000199 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.144G>A r.(?) p.(Ala48=) Unknown - benign g.116339282G>A g.116699228G>A MET(NM_001127500.1):c.144G>A (p.A48=) - MET_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.144G>A r.(?) p.(Ala48=) Unknown - benign g.116339282G>A g.116699228G>A MET(NM_001127500.1):c.144G>A (p.A48=) - MET_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.144G>A r.(?) p.(Ala48=) Unknown - benign g.116339282G>A g.116699228G>A MET(NM_001127500.1):c.144G>A (p.A48=) - MET_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.144G>A r.(=) p.(=) Parent #1 - likely benign g.116339282G>A g.116699228G>A - - MET_000120 57 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11762213 Germline - 57/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 57 Mohammed Faruq
?/? 3 c.146A>G r.(?) p.(Glu49Gly) Parent #1 - VUS g.116339284A>G g.116699230A>G - - MET_000200 - MORL Deafness Variation Database, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.147A>G r.(=) p.(=) Parent #1 - VUS g.116339285A>G g.116699231A>G - - MET_000201 - MORL Deafness Variation Database, PubMed: Bean 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Bean 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.199A>G r.(?) p.(Thr67Ala) Parent #1 - VUS g.116339337A>G g.116699283A>G - - MET_000203 - MORL Deafness Variation Database, PubMed: Johnston 2012 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Johnston 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.199A>T r.(?) p.(Thr67Ser) Parent #1 - VUS g.116339337A>T g.116699283A>T - - MET_000202 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.289C>G r.(?) p.(Leu97Val) Parent #1 - VUS g.116339427C>G g.116699373C>G - - MET_000204 - MORL Deafness Variation Database, PubMed: Bean 2013, PubMed: Bodian 2014 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Bean 2013, PubMed: Bodian 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.390C>T r.(?) p.(Leu130=) Unknown - benign g.116339528C>T g.116699474C>T MET(NM_001127500.1):c.390C>T (p.L130=) - MET_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.406G>A r.(?) p.(Val136Ile) Parent #1 - VUS g.116339544G>A g.116699490G>A - - MET_000205 - MORL Deafness Variation Database, PubMed: Babel 1975, PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Neklason 2011 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Babel 1975, PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Neklason 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.465G>T r.(?) p.(Gln155His) Parent #1 - VUS g.116339603G>T g.116699549G>T - - MET_000206 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.467C>T r.(?) p.(Ser156Leu) Parent #1 - likely benign g.116339605C>T g.116699551C>T - - MET_000207 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/- 3 c.468G>A r.(?) p.(=) Parent #1 - benign g.116339606G>A g.116699552G>A - - MET_000208 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.504G>T r.(?) p.(Glu168Asp) Unknown - benign g.116339642G>T g.116699588G>T MET(NM_000245.2):c.504G>T (p.(Glu168Asp)), MET(NM_001127500.1):c.504G>T (p.E168D) - MET_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.504G>T r.(?) p.(Glu168Asp) Unknown - likely benign g.116339642G>T g.116699588G>T MET(NM_000245.2):c.504G>T (p.(Glu168Asp)), MET(NM_001127500.1):c.504G>T (p.E168D) - MET_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.504G>T r.(?) p.(Glu168Asp) Unknown - likely benign g.116339642G>T g.116699588G>T MET(NM_000245.2):c.504G>T (p.(Glu168Asp)), MET(NM_001127500.1):c.504G>T (p.E168D) - MET_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.510C>G r.(?) p.(Ser170Arg) Parent #1 - VUS g.116339648C>G g.116699594C>G - - MET_000209 - MORL Deafness Variation Database, PubMed: Bodian 2014 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Bodian 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.522C>G r.(?) p.(Asp174Glu) Parent #1 - VUS g.116339660C>G g.116699606C>G - - MET_000210 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.534C>T r.(?) p.(Ser178=) Unknown - benign g.116339672C>T g.116699618C>T MET(NM_001127500.1):c.534C>T (p.S178=) - MET_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.534C>T r.(?) p.(Ser178=) Unknown - benign g.116339672C>T g.116699618C>T MET(NM_001127500.1):c.534C>T (p.S178=) - MET_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.534C>T r.(?) p.(Ser178=) Unknown - benign g.116339672C>T g.116699618C>T MET(NM_001127500.1):c.534C>T (p.S178=) - MET_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.535G>A r.(?) p.(Ala179Thr) Parent #1 - pathogenic g.116339673G>A g.116699619G>A - - MET_000211 - MORL Deafness Variation Database, PubMed: Finegold 2008 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Finegold 2008 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.585C>T r.(?) p.(=) Parent #1 - likely benign g.116339723C>T g.116699669C>T - - MET_000212 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.599C>A r.(?) p.(Thr200Asn) Parent #1 - VUS g.116339737C>A g.116699683C>A - - MET_000213 - MORL Deafness Variation Database, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.607T>A r.(?) p.(Ser203Thr) Unknown - likely benign g.116339745T>A g.116699691T>A MET(NM_001127500.1):c.607T>A (p.S203T) - MET_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607T>A r.(?) p.(Ser203Thr) Unknown - likely benign g.116339745T>A g.116699691T>A MET(NM_001127500.1):c.607T>A (p.S203T) - MET_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 3 c.607T>A r.(?) p.(Ser203Thr) Parent #1 - likely benign g.116339745T>A g.116699691T>A - - MET_000169 - MORL Deafness Variation Database, PubMed: Johnston 2012, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Johnston 2012, PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.623A>G r.(?) p.(Lys208Arg) Parent #1 - VUS g.116339761A>G g.116699707A>G - - MET_000214 - MORL Deafness Variation Database, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.632T>G r.(?) p.(Phe211Cys) Parent #1 - likely benign g.116339770T>G g.116699716T>G - - MET_000215 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.639G>A r.(?) p.(=) Parent #1 - likely benign g.116339777G>A g.116699723G>A - - MET_000216 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.640A>G r.(?) p.(Ile214Val) Parent #1 - VUS g.116339778A>G g.116699724A>G - - MET_000217 - MORL Deafness Variation Database, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.665C>T r.(?) p.(Thr222Met) Unknown - VUS g.116339803C>T g.116699749C>T MET(NM_001127500.1):c.665C>T (p.T222M) - MET_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.665C>T r.(?) p.(Ser222Phe) Parent #1 - VUS g.116339803C>T g.116699749C>T - - MET_000170 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.669A>G r.(?) p.(=) Parent #1 - likely benign g.116339807A>G g.116699753A>G - - MET_000218 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.670G>T r.(?) p.(Asp224Tyr) Parent #1 - VUS g.116339808G>T g.116699754G>T - - MET_000219 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.689C>T r.(?) p.(Thr230Met) Parent #1 - VUS g.116339827C>T g.116699773C>T - - MET_000220 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.693C>T r.(?) p.(=) Parent #1 - likely benign g.116339831C>T g.116699777C>T - - MET_000221 - MORL Deafness Variation Database, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.713T>C r.(?) p.(Leu238Pro) Parent #1 - VUS g.116339851T>C g.116699797T>C - - MET_000222 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.732T>G r.(=) p.(=) Parent #1 - likely benign g.116339870T>G g.116699816T>G - - MET_000223 - MORL Deafness Variation Database, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.776T>C r.(?) p.(Ile259Thr) Parent #1 - VUS g.116339914T>C g.116699860T>C - - MET_000224 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.789G>A r.(?) p.(=) Parent #1 - VUS g.116339927G>A g.116699873G>A - - MET_000225 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.798G>A r.(?) p.(Arg266=) Unknown - likely benign g.116339936G>A g.116699882G>A MET(NM_001127500.1):c.798G>A (p.R266=) - MET_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798G>A r.(?) p.(Arg266=) Unknown - likely benign g.116339936G>A g.116699882G>A MET(NM_001127500.1):c.798G>A (p.R266=) - MET_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.798G>A r.(?) p.(=) Parent #1 - benign g.116339936G>A g.116699882G>A - - MET_000171 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.818C>G r.(?) p.(Thr273Ser) Parent #1 - VUS g.116339956C>G g.116699902C>G - - MET_000226 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.833T>A r.(?) p.(Ile278Lys) Unknown - likely benign g.116339971T>A g.116699917T>A MET(NM_001127500.1):c.833T>A (p.I278K) - MET_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883C>T r.(?) p.(Pro295Ser) Unknown - VUS g.116340021C>T g.116699967C>T MET(NM_001127500.1):c.883C>T (p.P295S) - MET_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.901A>G r.(?) p.(Thr301Ala) Unknown - likely benign g.116340039A>G g.116699985A>G MET(NM_001127500.1):c.901A>G (p.T301A) - MET_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.901A>G r.(?) p.(Thr301Ala) Unknown - VUS g.116340039A>G g.116699985A>G MET(NM_001127500.1):c.901A>G (p.T301A) - MET_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.901A>G r.(?) p.(Thr301Ala) Parent #1 - VUS g.116340039A>G g.116699985A>G - - MET_000150 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.939G>A r.(?) p.(Met313Ile) Parent #1 - likely benign g.116340077G>A g.116700023G>A - - MET_000227 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.948A>G r.(?) p.(Ile316Met) Unknown - benign g.116340086A>G g.116700032A>G MET(NM_001127500.1):c.948A>G (p.I316M) - MET_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 3 c.959C>T r.(?) p.(Thr320Ile) Parent #1 - likely benign g.116340097C>T g.116700043C>T - - MET_000228 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.960G>A r.(?) p.(=) Parent #1 - likely benign g.116340098G>A g.116700044G>A - - MET_000229 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.967A>G r.(?) p.(Arg323Gly) Parent #1 - VUS g.116340105A>G g.116700051A>G - - MET_000230 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 0, 2, 201467281: INVALID PMID PubMed: Johnston 2012 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Johnston 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.1019A>G r.(?) p.(Tyr340Cys) Parent #1 - VUS g.116340157A>G g.116700103A>G - - MET_000231 - MORL Deafness Variation Database, PubMed: Bean 2013, PubMed: Johnston 2012 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Bean 2013, PubMed: Johnston 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1039G>A r.(?) p.(Ala347Thr) Unknown - VUS g.116340177G>A g.116700123G>A MET(NM_000245.4):c.1039G>A (p.A347T), MET(NM_001127500.1):c.1039G>A (p.A347T) - MET_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039G>A r.(?) p.(Ala347Thr) Unknown - benign g.116340177G>A g.116700123G>A MET(NM_000245.4):c.1039G>A (p.A347T), MET(NM_001127500.1):c.1039G>A (p.A347T) - MET_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.1039G>A r.(?) p.(Ala347Thr) Parent #1 - VUS g.116340177G>A g.116700123G>A - - MET_000173 - MORL Deafness Variation Database, PubMed: Krishnaswamy 2009, PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Raikes 1976 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Krishnaswamy 2009, PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Raikes 1976 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1046G>A r.(?) p.Ser349Asn Unknown ACMG VUS g.116340184G>A g.116700130G>A - - MET_000189 ACMG grading: PM2 - - - Germline - - - 0 - DNA SEQ-NG-S - - - - - - F - - - - 0 - - 1 Andreas Laner
?/? 3 c.1048A>C r.(=) p.(=) Parent #1 - VUS g.116340186A>C g.116700132A>C - - MET_000232 - MORL Deafness Variation Database, PubMed: Johnston 2012 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Johnston 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.1051C>G r.(?) p.(Gln351Glu) Parent #1 - VUS g.116340189C>G g.116700135C>G - - MET_000233 - MORL Deafness Variation Database, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.1063G>A r.(?) p.(Glu355Lys) Parent #1 - VUS g.116340201G>A g.116700147G>A - - MET_000234 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.1076G>A r.(?) p.(Arg359Gln) Parent #1 - VUS g.116340214G>A g.116700160G>A - - MET_000235 - MORL Deafness Variation Database, PubMed: Bean 2013, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Bean 2013, PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.1081G>T r.(?) p.(Ala361Ser) Parent #1 - VUS g.116340219G>T g.116700165G>T - - MET_000236 - MORL Deafness Variation Database, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.1085T>C r.(?) p.(Met362Thr) Unknown - benign g.116340223T>C g.116700169T>C MET(NM_001127500.1):c.1085T>C (p.M362T) - MET_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101C>A r.(?) p.(Ile367=) Unknown - likely benign g.116340239C>A g.116700185C>A MET(NM_001127500.1):c.1101C>A (p.I367=) - MET_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1124A>G r.(?) p.(Asn375Ser) Unknown - benign g.116340262A>G g.116700208A>G MET(NM_001127500.1):c.1124A>G (p.N375S) - MET_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1124A>G r.(?) p.(Asn375Ser) Unknown - benign g.116340262A>G g.116700208A>G MET(NM_001127500.1):c.1124A>G (p.N375S) - MET_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1124A>G r.(?) p.(Asn375Ser) Unknown - benign g.116340262A>G g.116700208A>G MET(NM_001127500.1):c.1124A>G (p.N375S) - MET_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1131C>T r.(?) p.(Ile377=) Unknown - benign g.116340269C>T g.116700215C>T MET(NM_001127500.1):c.1131C>T (p.I377=) - MET_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1131C>T r.(?) p.(Ile377=) Unknown - benign g.116340269C>T g.116700215C>T MET(NM_001127500.1):c.1131C>T (p.I377=) - MET_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.1132G>A r.(?) p.(Val378Ile) Parent #1 - VUS g.116340270G>A g.116700216G>A - - MET_000237 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.1170C>T r.(=) p.(=) Parent #1 - likely benign g.116340308C>T g.116700254C>T - - MET_000238 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1171G>A r.(?) p.(Gly391Arg) Unknown - VUS g.116340309G>A g.116700255G>A - - MET_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.1171G>A r.(?) p.(Asp391Asn) Parent #1 - VUS g.116340309G>A g.116700255G>A - - MET_000152 - MORL Deafness Variation Database, PubMed: Bodian 2014, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Bodian 2014, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.1180C>A r.(?) p.(His394Asn) Parent #1 - VUS g.116340318C>A g.116700264C>A - - MET_000239 - MORL Deafness Variation Database, PubMed: Johnston 2012, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Johnston 2012, PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.1191C>T r.(=) p.(=) Parent #1 - likely benign g.116340329C>T g.116700275C>T - - MET_000240 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.1232C>T r.(?) p.(Pro411Leu) Parent #1 - VUS g.116371753C>T g.116731699C>T - - MET_000241 - MORL Deafness Variation Database, PubMed: Johnston 2012 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Johnston 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.1233G>A r.(?) p.(=) Parent #1 - likely benign g.116371754G>A g.116731700G>A - - MET_000242 - MORL Deafness Variation Database, PubMed: Reaume 2013, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - RCC - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 3 c.1237C>A r.(?) p.(His413Asn) Parent #1 - VUS g.116371758C>A g.116731704C>A - - MET_000243 - MORL Deafness Variation Database, PubMed: Johnston 2012 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Johnston 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 3 c.1250G>A r.(?) p.(Arg417Gln) Unknown - pathogenic g.116371771G>A g.116731717G>A R417Q - MET_000119 - - - - Germline - - - 0 - DNA SEQ-NG-S blood - MTC - - - F no Italy white - 0 - surgery 2 Marialuisa Sponziello
-?/-? 4 c.1263C>T r.(?) p.(=) Parent #1 - likely benign g.116371784C>T g.116731730C>T - - MET_000244 - MORL Deafness Variation Database, PubMed: Hampel 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hampel 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 4 c.1277G>C r.(1277g>c) p.(Arg426Pro) Unknown ACMG VUS g.116371798G>C - - - MET_000351 - - - - Germline - - - 0 - DNA SEQ-NG-I - - cancer, renal - - - - - France - - - - - 1 Molka Sebai
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