Full data view for gene ADAMTS10

Information The variants shown are described using the NM_030957.2 transcript reference sequence.

97 entries on 1 page. Showing entries 1 - 97.
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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     
-/- 3 c.-198A>G r.(=) p.(=) Unknown - benign g.8673114T>C g.8608232T>C - - ADAMTS10_000003 Global MAF: C=0.0092/20 - - rs4530289 Germline - 9 - - - DNA SEQ - - WMS4 - - - F no Germany - - - - - 1 Andreas Laner
-/. - c.-198A>G r.(=) p.(=) Parent #1 - benign g.8673114T>C g.8608232T>C - - ADAMTS10_000003 - - - rs4530289 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.-99-6_-99-5del r.spl? p.? Unknown - VUS g.8670700_8670701del - ADAMTS10(NM_030957.3):c.-99-6_-99-5delTC - ADAMTS10_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.24C>T r.(?) p.(Leu8=) Unknown - likely benign g.8670572G>A - ADAMTS10(NM_030957.3):c.24C>T (p.L8=) - ADAMTS10_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.41T>A r.(?) p.(Leu14Gln) Both (homozygous) - pathogenic g.8670555A>T g.8605670A>T - - ADAMTS10_000001 - - - - Germline - - - - - DNA SEQ - - WMS4 - - - F yes Turkey kurd - - - - 1 Oliver Brandau
?/. - c.68C>T r.(?) p.(Thr23Met) Unknown - VUS g.8670528G>A - ADAMTS10(NM_030957.2):c.68C>T (p.(Thr23Met)), ADAMTS10(NM_030957.3):c.68C>T (p.T23M) - ADAMTS10_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68C>T r.(?) p.(Thr23Met) Unknown - likely benign g.8670528G>A - ADAMTS10(NM_030957.2):c.68C>T (p.(Thr23Met)), ADAMTS10(NM_030957.3):c.68C>T (p.T23M) - ADAMTS10_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69G>A r.(?) p.(Thr23=) Unknown - likely benign g.8670527C>T g.8605642C>T ADAMTS10(NM_030957.3):c.69G>A (p.T23=) - ADAMTS10_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.79C>T r.(?) p.(Arg27Trp) Unknown - VUS g.8670517G>A - ADAMTS10(NM_030957.3):c.79C>T (p.R27W) - ADAMTS10_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89A>G r.(?) p.(Asp30Gly) Unknown - likely benign g.8670243T>C g.8605358T>C ADAMTS10(NM_030957.3):c.89A>G (p.D30G) - ADAMTS10_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125C>A r.(?) p.(Ala42Asp) Unknown - VUS g.8670207G>T - ADAMTS10(NM_030957.2):c.125C>A (p.(Ala42Asp)) - ADAMTS10_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125C>A r.(?) p.(Ala42Asp) Unknown - VUS g.8670207G>T - ADAMTS10(NM_030957.2):c.125C>A (p.(Ala42Asp)) - ADAMTS10_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132C>T r.(?) p.(Pro44=) Unknown - likely benign g.8670200G>A g.8605315G>A ADAMTS10(NM_030957.3):c.132C>T (p.P44=) - ADAMTS10_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6 c.185G>A r.(?) p.(Arg62Gln) Unknown - benign g.8670147C>T g.8605262C>T - - ADAMTS10_000006 homozygous in controls - - rs62621197 Unknown - MAF T=0.0257/56 - - - DNA SEQ - - glaucoma, retinal disease - - - F ? Germany - - - - - 1 Andreas Laner
-/. - c.185G>A r.(=) p.(Arg62Gln) Parent #1 - benign g.8670147C>T g.8605262C>T - - ADAMTS10_000006 also homozygous in controlls - - rs62621197 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.185G>A r.(?) p.(Arg62Gln) Unknown - benign g.8670147C>T g.8605262C>T ADAMTS10(NM_030957.2):c.185G>A (p.(Arg62Gln), p.R62Q) - ADAMTS10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.185G>A r.(?) p.(Arg62Gln) Unknown - likely benign g.8670147C>T g.8605262C>T ADAMTS10(NM_030957.2):c.185G>A (p.(Arg62Gln), p.R62Q) - ADAMTS10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199G>A r.(?) p.(Gly67Ser) Unknown - likely benign g.8670133C>T - ADAMTS10(NM_030957.3):c.199G>A (p.G67S) - ADAMTS10_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.217G>A r.(?) p.(Glu73Lys) Unknown - likely benign g.8670115C>T g.8605230C>T ADAMTS10(NM_030957.2):c.217G>A (p.(Glu73Lys)), ADAMTS10(NM_030957.4):c.217G>A (p.E73K) - ADAMTS10_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.217G>A r.(?) p.(Glu73Lys) Unknown - benign g.8670115C>T g.8605230C>T ADAMTS10(NM_030957.2):c.217G>A (p.(Glu73Lys)), ADAMTS10(NM_030957.4):c.217G>A (p.E73K) - ADAMTS10_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277C>T r.(?) p.(Arg93Cys) Unknown - VUS g.8670055G>A g.8605170G>A ADAMTS10(NM_030957.2):c.277C>T (p.(Arg93Cys)) - ADAMTS10_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304G>A r.(?) p.(Val102Ile) Unknown - VUS g.8670028C>T g.8605143C>T ADAMTS10(NM_030957.3):c.304G>A (p.V102I) - ADAMTS10_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350C>T r.(?) p.(Ala117Val) Unknown - likely benign g.8669982G>A - ADAMTS10(NM_030957.2):c.350C>T (p.(Ala117Val)) - ADAMTS10_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.351G>A r.(?) p.(Ala117=) Unknown - likely benign g.8669981C>T g.8605096C>T ADAMTS10(NM_030957.4):c.351G>A (p.A117=) - ADAMTS10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 8 c.401C>G r.(?) p.(Thr134Ser) Unknown - benign g.8669931G>C g.8605046= - - ADAMTS10_000002 - - - - Germline - MAF/MinorAlleleCount: G=0.148/322 - - - DNA SEQ - - WMS4 - - - F no Germany - - - - - 1 Andreas Laner
-/- 8 c.401C>G r.(?) p.(Thr134Ser) Unknown - benign g.8669931G>C g.8605046= - - ADAMTS10_000004 - - - rs7255721 Unknown - Global MAF G=0.1478/321 - - - DNA SEQ - - glaucoma, retinal disease - - - F ? Germany - - - - - 1 Andreas Laner
-/. - c.401C>G r.(=) p.(Thr134Ser) Parent #1 - benign g.8669931G>C g.8605046= - - ADAMTS10_000002 - - - rs7255721 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.401C>G r.(?) p.(Thr134Ser) Unknown - benign g.8669931G>C g.8605046= ADAMTS10(NM_030957.2):c.401C>G (p.T134S), ADAMTS10(NM_030957.4):c.401C>G (p.T134S) - ADAMTS10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.401C>G r.(?) p.(Thr134Ser) Unknown - benign g.8669931G>C g.8605046= ADAMTS10(NM_030957.2):c.401C>G (p.T134S), ADAMTS10(NM_030957.4):c.401C>G (p.T134S) - ADAMTS10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.401C>G r.(?) p.(Thr134Ser) Unknown - benign g.8669931G>C g.8605046= ADAMTS10(NM_030957.2):c.401C>G (p.T134S), ADAMTS10(NM_030957.4):c.401C>G (p.T134S) - ADAMTS10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408T>C r.(?) p.(His136=) Unknown - likely benign g.8669924A>G g.8605039A>G ADAMTS10(NM_030957.3):c.408T>C (p.H136=) - ADAMTS10_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 8i c.435+24A>G r.(?) p.(=) Unknown - benign g.8669873T>C g.8604988= - - ADAMTS10_000005 - - - rs7260282 Unknown - Global MAF T=0.1786/388 - - - DNA SEQ - - glaucoma, retinal disease - - - F ? Germany - - - - - 1 Andreas Laner
-/. - c.435+24A>G r.(=) p.(=) Parent #1 - benign g.8669873T>C g.8604988= - - ADAMTS10_000005 - - - rs7260282 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 8i c.435+30A>C r.(?) p.(=) Unknown - benign g.8669867T>G g.8604982T>G - - ADAMTS10_000007 homozygous in controls - - rs11670030 Unknown - MAF G=0.0634/138 - - - DNA SEQ - - glaucoma, retinal disease - - - F ? Germany - - - - - 1 Andreas Laner
-/. - c.435+30A>C r.(=) p.(=) Parent #1 - benign g.8669867T>G g.8604982T>G - - ADAMTS10_000007 - - - rs11670030 Germline - Frequency up to 10% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.438C>T r.(?) p.(His146=) Unknown - likely benign g.8668766G>A g.8603882G>A ADAMTS10(NM_030957.3):c.438C>T (p.H146=) - ADAMTS10_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483G>A r.(?) p.(Leu161=) Unknown - likely benign g.8668721C>T g.8603837C>T ADAMTS10(NM_030957.3):c.483G>A (p.L161=), ADAMTS10(NM_030957.4):c.483G>A (p.L161=) - ADAMTS10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483G>A r.(?) p.(Leu161=) Unknown - likely benign g.8668721C>T g.8603837C>T ADAMTS10(NM_030957.3):c.483G>A (p.L161=), ADAMTS10(NM_030957.4):c.483G>A (p.L161=) - ADAMTS10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.506G>A r.(?) p.(Arg169Gln) Unknown - likely benign g.8668698C>T g.8603814C>T ADAMTS10(NM_030957.2):c.506G>A (p.(Arg169Gln)), ADAMTS10(NM_030957.3):c.506G>A (p.R169Q) - ADAMTS10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.506G>A r.(?) p.(Arg169Gln) Unknown - likely benign g.8668698C>T g.8603814C>T ADAMTS10(NM_030957.2):c.506G>A (p.(Arg169Gln)), ADAMTS10(NM_030957.3):c.506G>A (p.R169Q) - ADAMTS10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.518A>G r.(?) p.(Glu173Gly) Unknown - VUS g.8668686T>C - ADAMTS10(NM_030957.3):c.518A>G (p.E173G) - ADAMTS10_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.698G>A r.(?) p.(Arg233Gln) Unknown - VUS g.8665924C>T - ADAMTS10(NM_030957.3):c.698G>A (p.R233Q) - ADAMTS10_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716G>A r.(?) p.(Arg239His) Unknown - VUS g.8665906C>T g.8601022C>T ADAMTS10(NM_030957.3):c.716G>A (p.R239H) - ADAMTS10_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1102G>A r.(?) p.(Gly368Arg) Unknown - VUS g.8661279C>T - ADAMTS10(NM_030957.3):c.1102G>A (p.G368R) - ADAMTS10_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1396A>G r.(?) p.(Thr466Ala) Unknown - VUS g.8660729T>C - ADAMTS10(NM_030957.3):c.1396A>G (p.T466A) - ADAMTS10_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1587+7G>A r.(=) p.(=) Unknown - likely benign g.8657640C>T - ADAMTS10(NM_030957.3):c.1587+7G>A - ADAMTS10_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1588-7C>G r.(=) p.(=) Unknown - benign g.8656994G>C g.8592110G>C ADAMTS10(NM_001282352.1):c.53C>G (p.(Pro18Arg)), ADAMTS10(NM_030957.4):c.1588-7C>G - ADAMTS10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1588-7C>G r.(=) p.(=) Unknown - likely benign g.8656994G>C g.8592110G>C ADAMTS10(NM_001282352.1):c.53C>G (p.(Pro18Arg)), ADAMTS10(NM_030957.4):c.1588-7C>G - ADAMTS10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1695C>T r.(?) p.(Gly565=) Unknown - likely benign g.8656880G>A g.8591996G>A ADAMTS10(NM_001282352.1):c.167C>T (p.A56V) - ADAMTS10_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1752G>C r.(?) p.(Lys584Asn) Unknown - VUS g.8656729C>G g.8591845C>G ADAMTS10(NM_030957.2):c.1752G>C (p.(Lys584Asn)) - ADAMTS10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1798-6C>T r.(=) p.(=) Unknown - likely benign g.8654881G>A g.8589997G>A ADAMTS10(NM_001282352.1):c.270-6C>T (p.(=)) - ADAMTS10_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1925C>T r.(?) p.(Thr642Met) Unknown - VUS g.8654445G>A g.8589561G>A ADAMTS10(NM_001282352.1):c.386C>T (p.(Thr129Met)), ADAMTS10(NM_030957.3):c.1925C>T (p.T642M) - ADAMTS10_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1925C>T r.(?) p.(Thr642Met) Unknown - VUS g.8654445G>A - ADAMTS10(NM_001282352.1):c.386C>T (p.(Thr129Met)), ADAMTS10(NM_030957.3):c.1925C>T (p.T642M) - ADAMTS10_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1987C>A r.(?) p.(Pro663Thr) Unknown - VUS g.8654383G>T - ADAMTS10(NM_030957.2):c.1987C>A (p.(Pro663Thr)) - ADAMTS10_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1994G>A r.(?) p.(Arg665His) Unknown - VUS g.8654376C>T g.8589492C>T ADAMTS10(NM_030957.3):c.1994G>A (p.R665H) - ADAMTS10_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1996C>T r.(?) p.(Pro666Ser) Unknown - likely benign g.8654374G>A - ADAMTS10(NM_001282352.1):c.457C>T (p.(Pro153Ser)) - ADAMTS10_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2141C>T r.(?) p.(Pro714Leu) Unknown - likely benign g.8654143G>A g.8589259G>A ADAMTS10(NM_001282352.1):c.602C>T (p.(Pro201Leu)) - ADAMTS10_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2157C>G r.(?) p.(Ala719=) Unknown - likely benign g.8654127G>C g.8589243G>C ADAMTS10(NM_001282352.1):c.618C>G (p.(Ala206=)), ADAMTS10(NM_030957.3):c.2157C>G (p.A719=) - ADAMTS10_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2157C>G r.(?) p.(Ala719=) Unknown - likely benign g.8654127G>C g.8589243G>C ADAMTS10(NM_001282352.1):c.618C>G (p.(Ala206=)), ADAMTS10(NM_030957.3):c.2157C>G (p.A719=) - ADAMTS10_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2158+20C>T r.(=) p.(=) Parent #1 - benign g.8654106G>A g.8589222G>A - - ADAMTS10_000012 - - - rs73501572 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.2158+20C>T r.(=) p.(=) Unknown - benign g.8654106G>A g.8589222G>A ADAMTS10(NM_030957.4):c.2158+20C>T - ADAMTS10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2173G>A r.(?) p.(Val725Ile) Unknown - VUS g.8651766C>T g.8586882C>T ADAMTS10(NM_030957.4):c.2173G>A (p.V725I) - ADAMTS10_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2194G>A r.(?) p.(Val732Ile) Unknown - VUS g.8651745C>T g.8586861C>T ADAMTS10(NM_030957.3):c.2194G>A (p.V732I) - ADAMTS10_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2260_2261insTG r.(?) p.(Ser754Leufs*19) Unknown - likely pathogenic g.8651584_8651585insCA - ADAMTS10(NM_030957.2):c.2260_2261insTG (p.(Ser754Leufs*19)) - ADAMTS10_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 21 c.2283T>C r.(?) p.(=) Both (homozygous) - benign g.8651562A>G g.8586678A>G - - ADAMTS10_000009 - - - rs4476282 Unknown - MAF G=0.1915/416 - - - DNA SEQ - - WMS4 - - - M ? Germany - - - - - 1 Andreas Laner
-/. - c.2283T>C r.(=) p.(=) Parent #1 - benign g.8651562A>G g.8586678A>G - - ADAMTS10_000009 - - - rs4476282 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.2283T>C r.(?) p.(Pro761=) Unknown - benign g.8651562A>G g.8586678A>G ADAMTS10(NM_030957.2):c.2283T>C (p.P761P) - ADAMTS10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2283T>C r.(?) p.(Pro761=) Unknown - benign g.8651562A>G g.8586678A>G ADAMTS10(NM_030957.2):c.2283T>C (p.P761P) - ADAMTS10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2309C>G r.(?) p.(Pro770Arg) Unknown - VUS g.8651536G>C g.8586652G>C ADAMTS10(NM_030957.3):c.2309C>G (p.P770R) - ADAMTS10_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2365G>A r.(?) p.(Glu789Lys) Unknown - VUS g.8651480C>T g.8586596C>T ADAMTS10(NM_030957.4):c.2365G>A (p.E789K) - ADAMTS10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2370C>T r.(?) p.(Ala790=) Unknown - likely benign g.8651475G>A - ADAMTS10(NM_030957.3):c.2370C>T (p.A790=) - ADAMTS10_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2403+4A>G r.spl? p.? Unknown - likely benign g.8651438T>C g.8586554T>C ADAMTS10(NM_001282352.1):c.864+4A>G (p.?), ADAMTS10(NM_030957.3):c.2403+4A>G - ADAMTS10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2403+4A>G r.spl? p.? Unknown - likely benign g.8651438T>C g.8586554T>C ADAMTS10(NM_001282352.1):c.864+4A>G (p.?), ADAMTS10(NM_030957.3):c.2403+4A>G - ADAMTS10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2409G>C r.(?) p.(Leu803=) Unknown - likely benign g.8651349C>G - ADAMTS10(NM_030957.3):c.2409G>C (p.L803=) - ADAMTS10_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2415G>A r.(?) p.(=) Unknown - likely benign g.8651343C>T - ADAMTS10(NM_030957.4):c.2415G>A (p.R805=) - ADAMTS10_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2423T>G r.(?) p.(Leu808Arg) Unknown - likely benign g.8651335A>C g.8586451A>C ADAMTS10(NM_030957.2):c.2423T>G (p.(Leu808Arg)) - ADAMTS10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2423T>G r.(?) p.(Leu808Arg) Parent #1 - likely benign g.8651335A>C g.8586451A>C - - ADAMTS10_000030 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10420313 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.2454dup r.(?) p.(Ile819HisfsTer4) Unknown - pathogenic g.8651308dup g.8586424dup ADAMTS10(NM_030957.4):c.2454dupC (p.I819Hfs*4) - ADAMTS10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2584G>T r.(?) p.(Ala862Ser) Unknown - likely benign g.8651082C>A g.8586198C>A ADAMTS10(NM_030957.2):c.2584G>T (p.(Ala862Ser)) - ADAMTS10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2661-8T>G r.(=) p.(=) Unknown - likely benign g.8650552A>C - ADAMTS10(NM_030957.2):c.2661-8T>G (p.(=)) - ADAMTS10_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2661-2A>C r.spl? p.? Unknown - VUS g.8650546T>G - ADAMTS10(NM_030957.4):c.2661-2A>C - ADAMTS10_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2714G>A r.(?) p.(Arg905His) Unknown - VUS g.8650491C>T g.8585607C>T ADAMTS10(NM_030957.2):c.2714G>A (p.(Arg905His)) - ADAMTS10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2733C>G r.(?) p.(Cys911Trp) Unknown - VUS g.8650472G>C g.8585588G>C ADAMTS10(NM_030957.2):c.2733C>G (p.(Cys911Trp)) - ADAMTS10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2742_2780dup r.(?) p.(Val915_Ala927dup) Unknown - VUS g.8650425_8650463dup - ADAMTS10(NM_030957.4):c.2742_2780dup (p.(Val915_Ala927dup)) - ADAMTS10_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2810A>G r.(?) p.(Glu937Gly) Unknown - VUS g.8650395T>C - ADAMTS10(NM_030957.2):c.2810A>G (p.(Glu937Gly)) - ADAMTS10_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2908C>T r.(?) p.(Leu970Phe) Unknown - VUS g.8650150G>A g.8585266G>A ADAMTS10(NM_030957.2):c.2908C>T (p.(Leu970Phe)) - ADAMTS10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3011C>T r.(?) p.(Pro1004Leu) Unknown - VUS g.8650047G>A g.8585163G>A ADAMTS10(NM_030957.2):c.3011C>T (p.(Pro1004Leu)) - ADAMTS10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3043-12_3043-6dup r.(=) p.(=) Parent #1 - VUS g.8649945_8649951dup g.8585061_8585067dup - - ADAMTS10_000011 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.3043-12_3043-6dup r.(=) p.(=) Unknown - benign g.8649945_8649951dup g.8585061_8585067dup ADAMTS10(NM_030957.2):c.3043-6_3043-5insGCCCCCT (p.?), ADAMTS10(NM_030957.4):c.3043-6_3043-5insGCCCCCT - ADAMTS10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3043-12_3043-6dup r.(=) p.(=) Unknown - likely benign g.8649945_8649951dup g.8585061_8585067dup ADAMTS10(NM_030957.2):c.3043-6_3043-5insGCCCCCT (p.?), ADAMTS10(NM_030957.4):c.3043-6_3043-5insGCCCCCT - ADAMTS10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3052C>T r.(?) p.(Gln1018*) Unknown - likely pathogenic g.8649929G>A - ADAMTS10(NM_030957.2):c.3052C>T (p.(Gln1018*)) - ADAMTS10_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3116A>C r.(?) p.(His1039Pro) Unknown - likely benign g.8649865T>G g.8584981T>G ADAMTS10(NM_030957.2):c.3116A>C (p.(His1039Pro)) - ADAMTS10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3193G>A r.(?) p.(Gly1065Ser) Unknown - likely benign g.8649788C>T - ADAMTS10(NM_001282352.1):c.1654G>A (p.(Gly552Ser)) - ADAMTS10_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3209A>G r.(?) p.(Lys1070Arg) Unknown - VUS g.8645880T>C g.8580996T>C ADAMTS10(NM_030957.3):c.3209A>G (p.K1070R) - ADAMTS10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3303= r.(=) p.(Gln1101=) Unknown - benign g.8645786A>C g.8580902A>C ADAMTS10(NM_030957.3):c.3303T>G (p.H1101Q), ADAMTS10(NM_030957.4):c.3303T>G (p.H1101Q) - ADAMTS10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3303= r.(=) p.(Gln1101=) Unknown - benign g.8645786A>C g.8580902A>C ADAMTS10(NM_030957.3):c.3303T>G (p.H1101Q), ADAMTS10(NM_030957.4):c.3303T>G (p.H1101Q) - ADAMTS10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3303T>G r.(=) p.(His1101Gln) Parent #1 - benign g.8645786A>C - - - ADAMTS10_000010 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - rs7252299 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
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