Full data view for gene ADAMTS19

Information The variants shown are described using the NM_133638.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     

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Disease     

ID_report     

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Remarks     

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Panel size     

Owner     
./. - c.-4967579_*16644374dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.94C>G r.(?) p.(Arg32Gly) Unknown - VUS g.128796815C>G - ADAMTS19(NM_133638.4):c.112C>G (p.R38G) - ADAMTS19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160A>C r.(?) p.(Ser54Arg) Unknown - VUS g.128796881A>C - ADAMTS19(NM_133638.4):c.178A>C (p.S60R), ADAMTS19(NM_133638.5):c.178A>C (p.S60R), ADAMTS19(NM_133638.6):c.178A>C (p.(Ser60Arg)) - ADAMTS19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160A>C r.(?) p.(Ser54Arg) Unknown - VUS g.128796881A>C - ADAMTS19(NM_133638.4):c.178A>C (p.S60R), ADAMTS19(NM_133638.5):c.178A>C (p.S60R), ADAMTS19(NM_133638.6):c.178A>C (p.(Ser60Arg)) - ADAMTS19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160A>C r.(?) p.(Ser54Arg) Unknown - likely benign g.128796881A>C - ADAMTS19(NM_133638.4):c.178A>C (p.S60R), ADAMTS19(NM_133638.5):c.178A>C (p.S60R), ADAMTS19(NM_133638.6):c.178A>C (p.(Ser60Arg)) - ADAMTS19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321G>A r.(?) p.(Pro107=) Unknown - likely benign g.128797042G>A - ADAMTS19(NM_133638.4):c.339G>A (p.P113=) - ADAMTS19_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.438G>T r.(?) p.(Pro146=) Unknown - likely benign g.128797159G>T - ADAMTS19(NM_133638.4):c.456G>T (p.P152=) - ADAMTS19_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.879C>T r.(?) p.(=) Unknown - likely benign g.128844919C>T - ADAMTS19(NM_133638.6):c.897C>T (p.Y299=) - ADAMTS19_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883G>C r.(?) p.(Gly295Arg) Unknown - VUS g.128844923G>C - ADAMTS19(NM_133638.4):c.901G>C (p.G301R) - ADAMTS19_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - VUS g.128863489C>T - ADAMTS19(NM_133638.4):c.1135C>T (p.R379C) - ADAMTS19_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1242A>G r.(?) p.(Ile414Met) Unknown - VUS g.128864302A>G - ADAMTS19(NM_133638.6):c.1260A>G (p.I420M) - ADAMTS19_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1311G>A r.(?) p.(=) Unknown - likely benign g.128887557G>A - ADAMTS19(NM_133638.6):c.1329G>A (p.R443=) - ADAMTS19_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1854+11dup r.(=) p.(=) Unknown - likely benign g.128977664dup - ADAMTS19(NM_133638.4):c.1872+11dupT - ADAMTS19_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1881C>A r.(?) p.(Ser627Arg) Unknown - VUS g.128983484C>A - ADAMTS19(NM_133638.4):c.1899C>A (p.S633R) - ADAMTS19_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1939C>T r.(?) p.(Arg647*) Unknown - likely pathogenic (recessive) g.128983542C>T g.129647849C>T - - ADAMTS19_000003 - In press Clin Genet 2020 - - Germline yes - - - - DNA SEQ-NG-I blood WES AAT11 1436928 In Press Clin Genet 2020 - F - Morocco - 11y - - - 1 Aida Bertoli-Avella
+?/. - c.2004G>T r.(?) p.(Arg668Ser) Both (homozygous) - likely pathogenic (recessive) g.128984509G>T g.129648816G>T - - ADAMTS19_000002 - In press Clin Genet 2020 - - Germline yes - - - - DNA SEQ-NG-I blood WES PCKDC 1370131 In press Clin Genet 2020 - F yes Saudi Arabia - 07y - - - 1 Aida Bertoli-Avella
?/. - c.2089T>C r.(?) p.(Cys697Arg) Unknown - VUS g.128984594T>C - ADAMTS19(NM_133638.6):c.2107T>C (p.C703R) - ADAMTS19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2572G>A r.(?) p.(Val858Ile) Unknown - VUS g.129015540G>A - ADAMTS19(NM_133638.4):c.2590G>A (p.V864I) - ADAMTS19_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2969G>T r.(?) p.(Arg990Leu) Unknown - VUS g.129037113G>T - ADAMTS19(NM_133638.4):c.2987G>T (p.R996L) - ADAMTS19_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3089G>A r.(?) p.(Arg1030His) Unknown - VUS g.129037233G>A - ADAMTS19(NM_133638.6):c.3107G>A (p.R1036H) - ADAMTS19_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3170G>A r.(?) p.(Arg1057His) Unknown - VUS g.129039960G>A - ADAMTS19(NM_133638.6):c.3188G>A (p.R1063H) - ADAMTS19_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3520C>T r.(?) p.(Arg1174*) Both (homozygous) - likely pathogenic (recessive) g.129072807C>T g.129737114C>T - - ADAMTS19_000001 - - - - Germline yes - - - - DNA SEQ-NG-I blood - ? 1343068 In Press Clin Genet 2020 - F - Saudi Arabia - 09y - - - 1 Aida Bertoli-Avella
?/. - c.3614A>G r.(?) p.(Gln1205Arg) Unknown - VUS g.129072901A>G - ADAMTS19(NM_133638.4):c.3632A>G (p.Q1211R) - ADAMTS19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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