Full data view for gene ADAMTS17

Information The variants shown are described using the NM_139057.2 transcript reference sequence.

150 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     
+/. _1_3i c.-80880_616+15062del r.0? p.0? Both (homozygous) - pathogenic g.100856032_100962984del g.100315827_100422779del - - CERS3_000006 100 kb deletion in 1.67 Mb shared homozygous region PubMed: Radner 2013, Journal: Radner 2013 - - Germline - - - - - DNA arraySNP, PCR, SEQ - - ARCI 23754960-FamDPat1/2 PubMed: Radner 2013, Journal: Radner 2013 2-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents M - Tunisia - - - - - 2 Johan den Dunnen
-?/. - c.32T>C r.(?) p.(Val11Ala) Unknown - likely benign g.100882073A>G g.100341868A>G ADAMTS17(NM_139057.2):c.32T>C (p.(Val11Ala)) - ADAMTS17_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.79+31C>G r.(=) p.(=) Parent #1 - benign g.100881995G>C g.100341790G>C - - ADAMTS17_000014 - - - rs2585224 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.80-105G>C r.(=) p.(=) Parent #1 - benign g.100881719C>G g.100341514C>G - - ADAMTS17_000013 - - - rs2587790 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.80-29G>A r.(=) p.(=) Parent #1 - VUS g.100881643C>T g.100341438C>T - - ADAMTS17_000012 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.161C>T r.(?) p.(Pro54Leu) Unknown - VUS g.100881533G>A - ADAMTS17(NM_139057.2):c.161C>T (p.(Pro54Leu)) - ADAMTS17_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.172G>T r.(?) p.(Gly58Trp) Unknown - likely benign g.100881522C>A - ADAMTS17(NM_139057.3):c.172G>T (p.G58W) - ADAMTS17_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214C>A r.(?) p.(Pro72Thr) Unknown - likely benign g.100881480G>T - ADAMTS17(NM_139057.2):c.214C>A (p.(Pro72Thr)) - ADAMTS17_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292C>G r.(?) p.(Arg98Gly) Unknown - VUS g.100881402G>C g.100341197G>C ADAMTS17(NM_139057.3):c.292C>G (p.R98G) - ADAMTS17_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.450+30C>A r.(=) p.(=) Parent #1 - benign g.100881214G>T g.100341009G>T - - ADAMTS17_000011 - - - rs882607 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.526C>G r.(?) p.(Arg176Gly) Unknown - VUS g.100871184G>C g.100330979G>C ADAMTS17(NM_139057.2):c.526C>G (p.(Arg176Gly)) - ADAMTS17_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.542G>A r.(?) p.(Arg181Lys) Unknown - likely benign g.100871168C>T g.100330963C>T ADAMTS17(NM_139057.2):c.542G>A (p.(Arg181Lys)) - ADAMTS17_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544C>G r.(?) p.(Arg182Gly) Unknown - VUS g.100871166G>C - ADAMTS17(NM_139057.2):c.544C>G (p.(Arg182Gly)) - ADAMTS17_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548A>G r.(?) p.(Lys183Arg) Unknown - likely benign g.100871162T>C g.100330957T>C ADAMTS17(NM_139057.2):c.548A>G (p.(Lys183Arg)), ADAMTS17(NM_139057.3):c.548A>G (p.K183R) - ADAMTS17_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548A>G r.(?) p.(Lys183Arg) Unknown - likely benign g.100871162T>C g.100330957T>C ADAMTS17(NM_139057.2):c.548A>G (p.(Lys183Arg)), ADAMTS17(NM_139057.3):c.548A>G (p.K183R) - ADAMTS17_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.590C>T r.(?) p.(Pro197Leu) Unknown - likely benign g.100871120G>A g.100330915G>A ADAMTS17(NM_139057.2):c.590C>T (p.(Pro197Leu)) - ADAMTS17_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607G>T r.(?) p.(Val203Phe) Parent #1 - VUS g.100871103C>A g.100330898C>A - - ADAMTS17_000101 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT patients PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
-/. - c.617-41A>G r.(=) p.(=) Parent #1 - benign g.100821647T>C g.100281442T>C - - ADAMTS17_000010 - - - rs7497712 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.647C>T r.(?) p.(Ser216Leu) Parent #1 - benign g.100821576G>A g.100281371G>A - - ADAMTS17_000009 - - - rs7496668 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.647C>T r.(?) p.(Ser216Leu) Unknown - benign g.100821576G>A g.100281371G>A ADAMTS17(NM_139057.4):c.647C>T (p.S216L) - ADAMTS17_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.647C>T r.(?) p.(Ser216Leu) Unknown - benign g.100821576G>A g.100281371G>A ADAMTS17(NM_139057.4):c.647C>T (p.S216L) - ADAMTS17_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.650del r.(?) p.(Asp218Thrfs*41) Both (homozygous) - pathogenic (recessive) g.100821573del g.100281368del NM_139057.2:c.652delG:p.(Asp218Thrfs*41) - ADAMTS17_000076 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0715, 11DG0716 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - 2 LOVD
?/. - c.659G>A r.(?) p.(Arg220Gln) Unknown - VUS g.100821564C>T - ADAMTS17(NM_139057.3):c.659G>A (p.R220Q) - ADAMTS17_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664C>T r.(?) p.(Arg222Trp) Unknown - VUS g.100821559G>A - ADAMTS17(NM_139057.4):c.664C>T (p.(Arg222Trp)) - ADAMTS17_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665G>A r.(?) p.(Arg222Gln) Unknown - VUS g.100821558C>T - ADAMTS17(NM_139057.2):c.665G>A (p.(Arg222Gln)) - ADAMTS17_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.680G>A r.(?) p.(Arg227Gln) Unknown - likely benign g.100821543C>T g.100281338C>T ADAMTS17(NM_139057.3):c.680G>A (p.R227Q) - ADAMTS17_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744C>T r.(?) p.(His248=) Unknown - likely benign g.100821479G>A - ADAMTS17(NM_139057.3):c.744C>T (p.H248=), ADAMTS17(NM_139057.4):c.744C>T (p.H248=) - ADAMTS17_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744C>T r.(?) p.(His248=) Unknown - likely benign g.100821479G>A - ADAMTS17(NM_139057.3):c.744C>T (p.H248=), ADAMTS17(NM_139057.4):c.744C>T (p.H248=) - ADAMTS17_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.756C>T r.(=) p.(=) Parent #1 - benign g.100821467G>A g.100281262G>A - - ADAMTS17_000008 - - - rs7496640 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.756C>T r.(?) p.(Ala252=) Unknown - benign g.100821467G>A g.100281262G>A ADAMTS17(NM_139057.4):c.756C>T (p.A252=) - ADAMTS17_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.756C>T r.(?) p.(Ala252=) Unknown - benign g.100821467G>A g.100281262G>A ADAMTS17(NM_139057.4):c.756C>T (p.A252=) - ADAMTS17_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.771C>T r.(?) p.(Ile257=) Unknown - likely benign g.100821452G>A g.100281247G>A ADAMTS17(NM_139057.3):c.771C>T (p.I257=) - ADAMTS17_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778G>A r.(?) p.(Val260Ile) Unknown - VUS g.100821445C>T - ADAMTS17(NM_139057.2):c.778G>A (p.(Val260Ile)) - ADAMTS17_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789+8C>T r.(=) p.(=) Parent #1 - benign g.100821426G>A g.100281221G>A - - ADAMTS17_000007 - - - rs7496614 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.789+8C>T r.(=) p.(=) Unknown - benign g.100821426G>A g.100281221G>A ADAMTS17(NM_139057.4):c.789+8C>T - ADAMTS17_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789+8C>T r.(=) p.(=) Unknown - benign g.100821426G>A g.100281221G>A ADAMTS17(NM_139057.4):c.789+8C>T - ADAMTS17_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.790-126G>A r.(=) p.(=) Parent #1 - benign g.100802766C>T g.100262561C>T - - ADAMTS17_000006 - - - rs4965298 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.862C>T r.(?) p.(Arg288Ter) Unknown - likely pathogenic g.100802568G>A - ADAMTS17(NM_139057.2):c.862C>T (p.(Arg288*)) - ADAMTS17_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.873+58T>C r.(=) p.(=) Parent #1 - benign g.100802499A>G g.100262294A>G - - ADAMTS17_000005 - - - rs4965297 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.873+62C>T r.(=) p.(=) Parent #1 - benign g.100802495G>A g.100262290G>A - - ADAMTS17_000004 - - - rs4965296 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.903G>A r.(?) p.(Glu301=) Unknown - likely benign g.100801812C>T g.100261607C>T ADAMTS17(NM_139057.3):c.903G>A (p.E301=) - ADAMTS17_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.905G>A r.(?) p.(Arg302Gln) Unknown - likely benign g.100801810C>T g.100261605C>T ADAMTS17(NM_139057.3):c.905G>A (p.R302Q) - ADAMTS17_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.953C>A r.(?) p.(Ala318Glu) Unknown - VUS g.100801762G>T g.100261557G>T ADAMTS17(NM_139057.3):c.953C>A (p.A318E) - ADAMTS17_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.956G>A r.(?) p.(Arg319Gln) Unknown - likely benign g.100801759C>T - ADAMTS17(NM_139057.2):c.956G>A (p.(Arg319Gln)) - ADAMTS17_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1017C>T r.(=) p.(=) Parent #1 - benign g.100801698G>A g.100261493G>A - - ADAMTS17_000003 - - - rs4965613 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1017C>T r.(?) p.(Ala339=) Unknown - benign g.100801698G>A g.100261493G>A ADAMTS17(NM_139057.4):c.1017C>T (p.A339=) - ADAMTS17_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1017C>T r.(?) p.(Ala339=) Unknown - benign g.100801698G>A g.100261493G>A ADAMTS17(NM_139057.4):c.1017C>T (p.A339=) - ADAMTS17_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031+6A>T r.(=) p.(=) Unknown - likely benign g.100801678T>A - ADAMTS17(NM_139057.4):c.1031+6A>T - ADAMTS17_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1053G>A r.(=) p.(=) Parent #1 - benign g.100794363C>T g.100254158C>T - - ADAMTS17_000015 - - - rs4369638 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1053G>A r.(?) p.(Lys351=) Unknown - benign g.100794363C>T g.100254158C>T ADAMTS17(NM_139057.4):c.1053G>A (p.K351=) - ADAMTS17_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1053G>A r.(?) p.(Lys351=) Unknown - benign g.100794363C>T g.100254158C>T ADAMTS17(NM_139057.4):c.1053G>A (p.K351=) - ADAMTS17_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1062G>A r.(?) p.(Pro354=) Unknown - likely benign g.100794354C>T - ADAMTS17(NM_139057.3):c.1062G>A (p.P354=) - ADAMTS17_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1075+1G>T r.spl? p.? Unknown - pathogenic g.100794340C>A g.100254135C>A ADAMTS17(NM_139057.3):c.1075+1G>T, ADAMTS17(NM_139057.4):c.1075+1G>T - ADAMTS17_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1075+1G>T r.spl? p.? Unknown - pathogenic g.100794340C>A g.100254135C>A ADAMTS17(NM_139057.3):c.1075+1G>T, ADAMTS17(NM_139057.4):c.1075+1G>T - ADAMTS17_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1075+8T>G r.(=) p.(=) Unknown - likely benign g.100794333A>C - ADAMTS17(NM_139057.4):c.1075+8T>G - ADAMTS17_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1288T>C r.(?) p.(Ser430Pro) Unknown - likely benign g.100695419A>G g.100155214A>G ADAMTS17(NM_139057.2):c.1288T>C (p.(Ser430Pro)), ADAMTS17(NM_139057.3):c.1288T>C (p.S430P) - ADAMTS17_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1288T>C r.(?) p.(Ser430Pro) Unknown - VUS g.100695419A>G - ADAMTS17(NM_139057.2):c.1288T>C (p.(Ser430Pro)), ADAMTS17(NM_139057.3):c.1288T>C (p.S430P) - ADAMTS17_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1317C>A r.(?) p.(Phe439Leu) Unknown - VUS g.100695390G>T - ADAMTS17(NM_139057.2):c.1317C>A (p.(Phe439Leu)), ADAMTS17(NM_139057.3):c.1317C>A (p.F439L) - ADAMTS17_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1317C>A r.(?) p.(Phe439Leu) Unknown - VUS g.100695390G>T - ADAMTS17(NM_139057.2):c.1317C>A (p.(Phe439Leu)), ADAMTS17(NM_139057.3):c.1317C>A (p.F439L) - ADAMTS17_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1337C>T r.(?) p.(Thr446Ile) Unknown - benign g.100692953G>A g.100152748G>A ADAMTS17(NM_139057.4):c.1337C>T (p.T446I) - ADAMTS17_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1419C>T r.(?) p.(Asn473=) Unknown - likely benign g.100692871G>A - ADAMTS17(NM_139057.3):c.1419C>T (p.N473=) - ADAMTS17_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1445T>C r.(?) p.(Met482Thr) Parent #1 - benign g.100692845A>G g.100152640A>G - - ADAMTS17_000002 - - - rs28567966 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1445T>C r.(?) p.(Met482Thr) Unknown - benign g.100692845A>G g.100152640A>G ADAMTS17(NM_139057.4):c.1445T>C (p.M482T) - ADAMTS17_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1474-6C>T r.(=) p.(=) Unknown - likely benign g.100673526G>A - ADAMTS17(NM_139057.4):c.1474-6C>T - ADAMTS17_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1555del r.(?) p.(Thr519Profs*15) Unknown - likely pathogenic g.100673439del - ADAMTS17(NM_139057.4):c.1555del (p.(Thr519Profs*15)) - ADAMTS17_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1558G>A r.(?) p.(Glu520Lys) Unknown - likely benign g.100673436C>T - ADAMTS17(NM_139057.2):c.1558G>A (p.(Glu520Lys)) - ADAMTS17_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1589G>A r.(?) p.(Gly530Glu) Unknown - VUS g.100672344C>T - ADAMTS17(NM_139057.4):c.1589G>A (p.(Gly530Glu)) - ADAMTS17_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1630G>A r.(?) p.(Gly544Arg) Unknown - VUS g.100672303C>T g.100132098C>T ADAMTS17(NM_139057.3):c.1630G>A (p.G544R) - ADAMTS17_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1644G>A r.(?) p.(Pro548=) Unknown - likely benign g.100672289C>T - ADAMTS17(NM_139057.3):c.1644G>A (p.P548=) - ADAMTS17_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1651G>A r.(?) p.(Ala551Thr) Unknown - benign g.100672282C>T g.100132077C>T ADAMTS17(NM_139057.2):c.1651G>A (p.(Ala551Thr)), ADAMTS17(NM_139057.4):c.1651G>A (p.A551T) - ADAMTS17_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1651G>A r.(?) p.(Ala551Thr) Unknown - likely benign g.100672282C>T - ADAMTS17(NM_139057.2):c.1651G>A (p.(Ala551Thr)), ADAMTS17(NM_139057.4):c.1651G>A (p.A551T) - ADAMTS17_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1682C>T r.(?) p.(Thr561Met) Unknown - VUS g.100672251G>A - ADAMTS17(NM_139057.4):c.1682C>T (p.(Thr561Met)) - ADAMTS17_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1690C>T r.(?) p.(Arg564Cys) Unknown - VUS g.100672243G>A - ADAMTS17(NM_139057.4):c.1690C>T (p.(Arg564Cys)) - ADAMTS17_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1696A>C r.(=) p.(=) Parent #1 - benign g.100672237T>G g.100132032T>G - - ADAMTS17_000001 - - - rs12907333 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1696A>C r.(?) p.(Arg566=) Unknown - benign g.100672237T>G g.100132032T>G ADAMTS17(NM_139057.4):c.1696A>C (p.R566=) - ADAMTS17_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1696A>C r.(?) p.(Arg566=) Unknown - benign g.100672237T>G g.100132032T>G ADAMTS17(NM_139057.4):c.1696A>C (p.R566=) - ADAMTS17_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1720C>T r.(?) p.(Pro574Ser) Unknown - VUS g.100672213G>A g.100132008G>A ADAMTS17(NM_139057.2):c.1720C>T (p.(Pro574Ser)) - ADAMTS17_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1721C>T r.(?) p.(Pro574Leu) Unknown - VUS g.100672212G>A - ADAMTS17(NM_139057.3):c.1721C>T (p.P574L) - ADAMTS17_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1748C>T r.(?) p.(Pro583Leu) Unknown - likely benign g.100657192G>A g.100116987G>A ADAMTS17(NM_139057.3):c.1748C>T (p.P583L) - ADAMTS17_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1767T>C r.(?) p.(His589=) Unknown - likely benign g.100657173A>G g.100116968A>G ADAMTS17(NM_139057.3):c.1767T>C (p.H589=) - ADAMTS17_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1814G>A r.(?) p.(Arg605Gln) Unknown - VUS g.100657126C>T - ADAMTS17(NM_139057.4):c.1814G>A (p.R605Q) - ADAMTS17_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1840C>T r.(?) p.(Arg614Trp) Unknown - likely benign g.100657100G>A g.100116895G>A ADAMTS17(NM_139057.2):c.1840C>T (p.(Arg614Trp)) - ADAMTS17_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1868T>C r.(?) p.(Leu623Pro) Parent #1 - VUS g.100657072A>G g.100116867A>G - - ADAMTS17_000063 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200371613 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.1873G>T r.(?) p.(Ala625Ser) Unknown - VUS g.100657067C>A - ADAMTS17(NM_139057.3):c.1873G>T (p.A625S) - ADAMTS17_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1875C>T r.(?) p.(Ala625=) Unknown - benign g.100657065G>A g.100116860G>A ADAMTS17(NM_139057.4):c.1875C>T (p.A625=) - ADAMTS17_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1876G>A r.(?) p.(Val626Met) Parent #1 - VUS g.100657064C>T g.100116859C>T - - ADAMTS17_000100 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT patients PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.1914G>T r.(?) p.(Ser638=) Unknown - likely benign g.100649296C>A g.100109091C>A ADAMTS17(NM_139057.3):c.1914G>T (p.S638=) - ADAMTS17_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1924A>T r.(?) p.(Lys642Ter) Both (homozygous) - pathogenic (recessive) g.100649286T>A g.100109081T>A - - ADAMTS17_000103 - PubMed: Liu 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam74Pat203 PubMed: Liu 2023 family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
-/. - c.1962C>T r.(=) p.(=) Parent #1 - benign g.100649248G>A g.100109043G>A - - ADAMTS17_000019 - - - rs61752832 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1962C>T r.(?) p.(Asp654=) Unknown - benign g.100649248G>A g.100109043G>A ADAMTS17(NM_139057.4):c.1962C>T (p.D654=) - ADAMTS17_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2017-5T>C r.spl? p.? Unknown - likely benign g.100636686A>G - ADAMTS17(NM_139057.3):c.2017-5T>C - ADAMTS17_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2017A>G r.(?) p.(Lys673Glu) Unknown - VUS g.100636681T>C - ADAMTS17(NM_139057.3):c.2017A>G (p.K673E) - ADAMTS17_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2047G>A r.(?) p.(Ala683Thr) Unknown - likely benign g.100636651C>T - ADAMTS17(NM_139057.3):c.2047G>A (p.A683T) - ADAMTS17_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2111G>A r.(?) p.(Gly704Asp) Unknown - VUS g.100636587C>T - ADAMTS17(NM_139057.4):c.2111G>A (p.(Gly704Asp)) - ADAMTS17_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2112C>T r.(?) p.(Gly704=) Unknown - benign g.100636586G>A g.100096381G>A ADAMTS17(NM_139057.4):c.2112C>T (p.G704=) - ADAMTS17_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2112C>T r.(?) p.(Gly704=) Unknown - benign g.100636586G>A g.100096381G>A ADAMTS17(NM_139057.4):c.2112C>T (p.G704=) - ADAMTS17_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2137+3G>T r.spl? p.? Unknown - likely benign g.100636558C>A g.100096353C>A ADAMTS17(NM_139057.2):c.2137+3G>T (p.?), ADAMTS17(NM_139057.3):c.2137+3G>T - ADAMTS17_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2137+3G>T r.spl? p.? Unknown - VUS g.100636558C>A - ADAMTS17(NM_139057.2):c.2137+3G>T (p.?), ADAMTS17(NM_139057.3):c.2137+3G>T - ADAMTS17_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2138-12C>T r.(=) p.(=) Unknown - benign g.100594271G>A g.100054066G>A ADAMTS17(NM_139057.4):c.2138-12C>T - ADAMTS17_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2138-12C>T r.(=) p.(=) Unknown - benign g.100594271G>A g.100054066G>A ADAMTS17(NM_139057.4):c.2138-12C>T - ADAMTS17_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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