All variants in the TBC1D24 gene

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

196 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

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     
?/. - c.-3491G>A r.(?) p.(=) - VUS g.2521796G>A g.2471795G>A NTN3(NM_006181.2):c.94G>A (p.(Asp32Asn)) - NTN3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-3440_-3387del r.(?) p.(=) - VUS g.2521847_2521900del g.2471846_2471899del NTN3(NM_006181.2):c.142_195del (p.(Leu49_Ala66del)) - NTN3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2849_-2830del r.(?) p.(=) - VUS g.2522438_2522457del g.2472437_2472456del NTN3(NM_006181.2):c.736_755del (p.(Ala246ArgfsTer32)) - NTN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2825_-2818del r.(?) p.(=) - VUS g.2522462_2522469del g.2472461_2472468del NTN3(NM_006181.2):c.760_767del (p.(Arg254ValfsTer28)) - NTN3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2814_-2805del r.(?) p.(=) - VUS g.2522473_2522482del g.2472472_2472481del NTN3(NM_006181.2):c.771_780del (p.(Cys257TrpfsTer13)) - NTN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2801_-2772del r.(?) p.(=) - VUS g.2522486_2522515del g.2472485_2472514del NTN3(NM_006181.2):c.783_812del (p.(Ser262_His271del)) - NTN3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-1500_-1489del r.(?) p.(=) - VUS g.2523787_2523798del g.2473786_2473797del NTN3(NM_006181.2):c.1414_1425del (p.(Arg473_Ala476del)) - NTN3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-78G>A r.(?) p.(=) - likely benign g.2546072G>A g.2496071G>A TBC1D24(NM_001199107.1):c.-78G>A - TBC1D24_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.-7C>T r.(?) p.(=) - likely benign g.2546143C>T g.2496142C>T TBC1D24(NM_001199107.1):c.-7C>T - TBC1D24_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.-7C>T r.(?) p.(=) - likely benign g.2546143C>T g.2496142C>T TBC1D24(NM_001199107.1):c.-7C>T - TBC1D24_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.22T>C r.(?) p.(Cys8Arg) - likely benign g.2546171T>C g.2496170T>C - - TBC1D24_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? 2 c.58C>T r.(?) p.(Gln20*) - VUS g.2546207C>T g.2496206C>T - - TBC1D24_000019 - PubMed: Campeau et al - - Germline - - pcampeau 0 pcampeau Philippe Campeau
?/? 2 c.58C>T r.(?) p.(Gln20*) - VUS g.2546207C>T g.2496206C>T - - TBC1D24_000019 - PubMed: Campeau et al - - Germline - - pcampeau 0 pcampeau Philippe Campeau
?/. - c.74A>G r.(?) p.(Lys25Arg) - VUS g.2546223A>G g.2496222A>G TBC1D24(NM_001199107.1):c.74A>G (p.K25R) - TBC1D24_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.116C>T r.(?) p.(Ala39Val) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.116C>T r.(?) p.(Ala39Val) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic - - - 0 - Jing Zhang
+?/. - c.116C>T r.(?) p.(Ala39Val) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.116C>T r.(?) p.(Ala39Val) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.116C>T r.(?) p.(Ala39Val) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.116C>T r.(?) p.(Ala39Val) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.116C>T r.(?) p.(Ala39Val) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic yes - - 0 - Jing Zhang
?/? 2 c.118C>T r.(?) p.(Arg40Cys) - VUS g.2546267C>T g.2496266C>T - - TBC1D24_000008 - PubMed: Campeau et al - - Germline yes - pcampeau 0 - Philippe Campeau
?/. - c.118C>T r.(?) p.(Arg40Cys) - VUS g.2546267C>T g.2496266C>T - - TBC1D24_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.119G>A r.(?) p.(Arg40His) - likely pathogenic g.2546268G>A g.2496267G>A - - TBC1D24_000071 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.119G>A r.(?) p.(Arg40His) - likely pathogenic g.2546268G>A g.2496267G>A - - TBC1D24_000071 - - - - Somatic yes - - 0 - Jing Zhang
?/? 2 c.119G>T r.(?) p.(Arg40Leu) - VUS g.2546268G>T g.2496267G>T - - TBC1D24_000012 - PubMed: Campeau et al - - Germline - - pcampeau 0 - Philippe Campeau
+?/. - c.139A>G r.(?) p.(Ser47Gly) - likely pathogenic g.2546288A>G g.2496287A>G - - TBC1D24_000072 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.151C>T r.(?) p.(Arg51Trp) - likely pathogenic g.2546300C>T g.2496299C>T - - TBC1D24_000073 - - - - Somatic yes - - 0 - Jing Zhang
./. - c.169C>T r.(?) p.(Arg57Cys) - VUS g.2546318C>T g.2496317C>T - - TBC1D24_000024 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202162520 Germline - 2/194 cases RE - 0 - Dheeraj Bobbili
./. - c.169C>T r.(?) p.(Arg57Cys) - VUS g.2546318C>T g.2496317C>T - - TBC1D24_000024 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202162520 Germline - 1/567 controls - 0 - Dheeraj Bobbili
./. - c.169C>T r.(?) p.(Arg57Cys) - VUS g.2546318C>T g.2496317C>T - - TBC1D24_000024 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202162520 Germline - 2/194 cases RE - 0 - Dheeraj Bobbili
?/. - c.169C>T r.(?) p.(Arg57Cys) - VUS g.2546318C>T g.2496317C>T TBC1D24(NM_001199107.1):c.169C>T (p.R57C, p.(Arg57Cys)) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.169C>T r.(?) p.(Arg57Cys) - likely benign g.2546318C>T g.2496317C>T TBC1D24(NM_001199107.1):c.169C>T (p.R57C, p.(Arg57Cys)) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.169C>T r.(?) p.(Arg57Cys) - likely benign g.2546318C>T g.2496317C>T TBC1D24(NM_001199107.1):c.169C>T (p.R57C, p.(Arg57Cys)) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.169C>T r.(?) p.(Arg57Cys) - likely benign g.2546318C>T g.2496317C>T TBC1D24(NM_001199107.1):c.169C>T (p.R57C, p.(Arg57Cys)) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. - c.178C>T r.(?) p.(Arg60Trp) - VUS g.2546327C>T g.2496326C>T - - TBC1D24_000025 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs373914077 Germline - 1/567 controls - 0 - Dheeraj Bobbili
?/. - c.178C>T r.(?) p.(Arg60Trp) - VUS g.2546327C>T g.2496326C>T TBC1D24(NM_001199107.1):c.178C>T (p.R60W) - TBC1D24_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.179G>A r.(?) p.(Arg60Gln) - likely benign g.2546328G>A g.2496327G>A TBC1D24(NM_001199107.1):c.179G>A (p.R60Q) - TBC1D24_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.192C>T r.(?) p.(Cys64=) - likely benign g.2546341C>T g.2496340C>T TBC1D24(NM_001199107.1):c.192C>T (p.C64=) - TBC1D24_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 2 c.194G>T r.(?) p.(Arg65Leu) - pathogenic g.2546343G>T g.2496342G>T - - TBC1D24_000023 - - - - Germline yes - - 0 - Zippi Brownstein
+?/. 2 c.194G>T r.(?) p.(Arg65Leu) - likely pathogenic g.2546343G>T g.2496342G>T - - TBC1D24_000023 - - ClinVar-000225038.1 rs878853232 Germline yes 0/220 chromosomes - 0 - Nada Danial-Farran
?/. - c.197C>T r.(?) p.(Thr66Met) - VUS g.2546346C>T g.2496345C>T - - TBC1D24_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.204G>A r.(?) p.(Thr68=) - likely benign g.2546353G>A g.2496352G>A TBC1D24(NM_001199107.1):c.204G>A (p.T68=) - TBC1D24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.204G>A r.(?) p.(Thr68=) - likely benign g.2546353G>A g.2496352G>A TBC1D24(NM_001199107.1):c.204G>A (p.T68=) - TBC1D24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.204G>A r.(?) p.(Thr68=) - likely benign g.2546353G>A g.2496352G>A TBC1D24(NM_001199107.1):c.204G>A (p.T68=) - TBC1D24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.207T>C r.(?) p.(Pro69=) - likely benign g.2546356T>C g.2496355T>C TBC1D24(NM_001199107.1):c.207T>C (p.P69=) - TBC1D24_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 2 c.208G>T r.(?) p.(Asp70Tyr) - VUS g.2546357G>T g.2496356G>T - - TBC1D24_000015 - PubMed: Rehman et al., 2014 - - Germline - - - 0 - Philippe Campeau
-?/. - c.225C>T r.(?) p.(Ser75=) - likely benign g.2546374C>T g.2496373C>T TBC1D24(NM_001199107.1):c.225C>T (p.S75=) - TBC1D24_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000074 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - Jing Zhang
?/. - c.294C>A r.(?) p.(Asn98Lys) - VUS g.2546443C>A g.2496442C>A TBC1D24(NM_001199107.1):c.294C>A (p.(Asn98Lys)) - TBC1D24_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
./. - c.313T>C r.(?) p.(Cys105Arg) - - g.2546462T>C g.2496461T>C - - TBC1D24_000021 - - - - Unknown ? - - 0 - Philippe Campeau
./. - c.325C>T r.(?) p.(Arg109Cys) - VUS g.2546474C>T g.2496473C>T - - TBC1D24_000026 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs372337277 Germline - 1/567 controls - 0 - Dheeraj Bobbili
?/. - c.325C>T r.(?) p.(Arg109Cys) - VUS g.2546474C>T g.2496473C>T TBC1D24(NM_001199107.1):c.325C>T (p.R109C) - TBC1D24_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 2 c.328G>A r.(?) p.(Gly110Ser) - VUS g.2546477G>A g.2496476G>A - - TBC1D24_000013 - PubMed: Campeau et al - - Germline - - pcampeau 0 - Philippe Campeau
./. - c.344G>T r.(?) p.(Arg115Leu) - VUS g.2546493G>T g.2496492G>T - - TBC1D24_000027 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
-?/. - c.384C>T r.(?) p.(Ile128=) - likely benign g.2546533C>T g.2496532C>T TBC1D24(NM_001199107.1):c.384C>T (p.I128=) - TBC1D24_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.404C>T r.(?) p.(Pro135Leu) - likely pathogenic g.2546553C>T g.2496552C>T - - TBC1D24_000076 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.404C>T r.(?) p.(Pro135Leu) - likely pathogenic g.2546553C>T g.2496552C>T - - TBC1D24_000076 - - - - Somatic yes - - 0 - Jing Zhang
?/. - c.409G>A r.(?) p.(Val137Met) - VUS g.2546558G>A g.2496557G>A TBC1D24(NM_001199107.1):c.409G>A (p.V137M) - TBC1D24_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.418C>G r.(?) p.(Leu140Val) - VUS g.2546567C>G g.2496566C>G TBC1D24(NM_001199107.1):c.418C>G (p.L140V) - TBC1D24_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.431A>G r.(?) p.(Tyr144Cys) - likely pathogenic g.2546580A>G g.2496579A>G - - TBC1D24_000077 - - - - Somatic yes - - 0 - Jing Zhang
-?/. - c.438C>T r.(?) p.(Ile146=) - likely benign g.2546587C>T g.2496586C>T TBC1D24(NM_001199107.1):c.438C>T (p.I146=) - TBC1D24_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 2 c.439G>C r.(?) p.(Asp147His) - VUS g.2546588G>C g.2496587G>C - - TBC1D24_000004 - PubMed: Falace A et al. 2010 - - Germline - - - 0 - Philippe Campeau
+?/. - c.442G>A r.(?) p.(Glu148Lys) - likely pathogenic g.2546591G>A g.2496590G>A - - TBC1D24_000078 - - - - Somatic yes - - 0 - Jing Zhang
-?/. - c.447C>T r.(?) p.(Ala149=) - likely benign g.2546596C>T g.2496595C>T TBC1D24(NM_001199107.1):c.447C>T (p.A149=) - TBC1D24_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.457G>A r.(?) p.(Glu153Lys) - VUS g.2546606G>A g.2496605G>A TBC1D24(NM_001199107.1):c.457G>A (p.(Glu153Lys)) - TBC1D24_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.457G>A r.(?) p.(Glu153Lys) - likely pathogenic g.2546606G>A g.2496605G>A TBC1D24(NM_001199107.1):c.457G>A (p.(Glu153Lys)) - TBC1D24_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.457G>T r.(?) p.(Glu153*) - likely pathogenic g.2546606G>T g.2496605G>T - - TBC1D24_000079 - - - - Somatic yes - - 0 - Jing Zhang
+?/? 2 c.468C>A r.(?) p.(Cys156*) - likely pathogenic g.2546617C>A g.2496616C>A - - TBC1D24_000002 - - - - Unknown - - - - - Laurent Villard
+?/? 2 c.533C>T r.(?) p.(Ser178Leu) - likely pathogenic (dominant) g.2546682C>T g.2496681C>T - - TBC1D24_000017 - PubMed: Azaiez 2014 - - Germline yes - - 0 - Hela Azaiez
+?/? 2 c.533C>T r.(?) p.(Ser178Leu) - likely pathogenic (dominant) g.2546682C>T g.2496681C>T - - TBC1D24_000017 - PubMed: Zhang 2014 - - Germline yes - - 0 - Tao Yang
-?/. - c.546G>A r.(?) p.(Thr182=) - likely benign g.2546695G>A g.2496694G>A TBC1D24(NM_001199107.1):c.546G>A (p.T182=) - TBC1D24_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.619C>T r.(?) p.(Gln207*) - pathogenic g.2546768C>T g.2496767C>T c.619C>T - TBC1D24_000080 - - - - Somatic yes - - 0 - Jing Zhang
+?/. - c.619C>T r.(?) p.(Gln207*) - likely pathogenic g.2546768C>T g.2496767C>T - - TBC1D24_000080 - - - - Somatic yes - - 0 - Jing Zhang
?/. - c.622_639del r.(?) p.(Val208_Gln213del) - VUS g.2546771_2546788del g.2496770_2496787del TBC1D24(NM_001199107.1):c.622_639delGTCTATGCGGACTGGCAG (p.V208_Q213del) - TBC1D24_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.641G>A r.(?) p.(Arg214His) - VUS g.2546790G>A g.2496789G>A - - TBC1D24_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200324356 Germline - 4/567 controls - 0 - Dheeraj Bobbili
./. - c.641G>A r.(?) p.(Arg214His) - VUS g.2546790G>A g.2496789G>A - - TBC1D24_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200324356 Germline - 4/567 controls - 0 - Dheeraj Bobbili
./. - c.641G>A r.(?) p.(Arg214His) - VUS g.2546790G>A g.2496789G>A - - TBC1D24_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200324356 Germline - 4/567 controls - 0 - Dheeraj Bobbili
./. - c.641G>A r.(?) p.(Arg214His) - VUS g.2546790G>A g.2496789G>A - - TBC1D24_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200324356 Germline - 4/567 controls - 0 - Dheeraj Bobbili
-?/. - c.641G>A r.(?) p.(Arg214His) - likely benign g.2546790G>A g.2496789G>A TBC1D24(NM_001199107.1):c.641G>A (p.R214H) - TBC1D24_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.641G>A r.(?) p.(Arg214His) - benign g.2546790G>A g.2496789G>A TBC1D24(NM_001199107.1):c.641G>A (p.R214H) - TBC1D24_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.641G>A r.(?) p.(Arg214His) - VUS g.2546790G>A g.2496789G>A TBC1D24(NM_001199107.1):c.641G>A (p.R214H) - TBC1D24_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.679C>T r.(?) p.(Arg227Trp) - likely pathogenic g.2546828C>T g.2496827C>T - - TBC1D24_000081 - - - - Somatic yes - - 0 - Jing Zhang
+?/? 2 c.686T>C r.(?) p.(Phe229Ser) - likely pathogenic g.2546835T>C g.2496834T>C - - TBC1D24_000001 - - - - Unknown - - - - - Laurent Villard
-?/. - c.702G>A r.(?) p.(Val234=) - likely benign g.2546851G>A g.2496850G>A TBC1D24(NM_001199107.1):c.702G>A (p.V234=) - TBC1D24_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 2 c.724C>T r.(?) p.(Arg242Cys) - likely pathogenic g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - Philippe Campeau
?/? 2 c.724C>T r.(?) p.(Arg242Cys) - likely pathogenic g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - Philippe Campeau
?/? 2 c.724C>T r.(?) p.(Arg242Cys) - VUS g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - Philippe Campeau
?/? 2 c.724C>T r.(?) p.(Arg242Cys) - VUS g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - Philippe Campeau
?/? 2 c.724C>T r.(?) p.(Arg242Cys) - VUS g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - Philippe Campeau
Legend   « First ‹ Prev     1 2     Next › Last »