Full data view for gene ADAMTS18

Information The variants shown are described using the NM_199355.2 transcript reference sequence.

156 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_23 c.= r.= p.= Parent #2 - benign g.= - - - ADAMTS18_000000 - - - - Germline no - - - - DNA SEQ - - Healthy/Control - - 2-generation family, unafected carrier parents/sibling - - Saudi Arabia - - - - - 3 Johan den Dunnen
-?/. - c.28G>A r.(?) p.(Ala10Thr) Unknown - likely benign g.77468565C>T - ADAMTS18(NM_001326358.1):c.-493G>A (p.(=)) - ADAMTS18_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35C>G r.(?) p.(Pro12Arg) Unknown - likely benign g.77468558G>C g.77434661G>C ADAMTS18(NM_199355.3):c.35C>G (p.P12R), ADAMTS18(NM_199355.4):c.35C>G (p.P12R) - ADAMTS18_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35C>G r.(?) p.(Pro12Arg) Unknown - VUS g.77468558G>C g.77434661G>C ADAMTS18(NM_199355.3):c.35C>G (p.P12R), ADAMTS18(NM_199355.4):c.35C>G (p.P12R) - ADAMTS18_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37G>C r.(?) p.(Ala13Pro) Unknown - VUS g.77468556C>G g.77434659C>G ADAMTS18(NM_199355.3):c.37G>C (p.A13P) - ADAMTS18_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56C>T r.(?) p.(Pro19Leu) Unknown - VUS g.77468537G>A g.77434640G>A ADAMTS18(NM_199355.4):c.56C>T (p.P19L) - ADAMTS18_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63C>A r.(?) p.(Gly21=) Unknown - likely benign g.77468530G>T - ADAMTS18(NM_199355.3):c.63C>A (p.G21=) - ADAMTS18_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69G>A r.(?) p.(Ala23=) Unknown - benign g.77468524C>T g.77434627C>T ADAMTS18(NM_199355.4):c.69G>A (p.A23=) - ADAMTS18_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.81C>A r.(?) p.(Arg27=) Unknown - benign g.77468512G>T g.77434615G>T ADAMTS18(NM_199355.4):c.81C>A (p.R27=) - ADAMTS18_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82G>T r.(?) p.(Val28Leu) Unknown - likely benign g.77468511C>A - ADAMTS18(NM_199355.3):c.82G>T (p.V28L) - ADAMTS18_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.97C>T r.(?) p.(Gln33*) Both (homozygous) - pathogenic g.77468396G>A g.77434499G>A g.616C>T - ADAMTS18_000001 - submitted, Human Mutation - - Unknown yes - - - - DNA PCR - - MMCAT - - - - - - - - - - - 4 Anas M Alazami
?/. - c.113G>A r.(?) p.(Cys38Tyr) Parent #2 - VUS g.77468380C>T g.77434483C>T - - ADAMTS18_000107 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-071 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
-?/. - c.131C>G r.(?) p.(Ala44Gly) Unknown - likely benign g.77468362G>C g.77434465G>C ADAMTS18(NM_199355.3):c.131C>G (p.A44G) - ADAMTS18_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160G>A r.(?) p.(Ala54Thr) Unknown - VUS g.77468333C>T - ADAMTS18(NM_199355.4):c.160G>A (p.(Ala54Thr)) - ADAMTS18_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216C>G r.(?) p.(Ala72=) Unknown - benign g.77465471G>C g.77431574G>C ADAMTS18(NM_199355.4):c.216C>G (p.A72=) - ADAMTS18_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.335T>G r.(?) p.(Leu112Arg) Unknown - likely pathogenic g.77465352A>C g.77431455A>C ADAMTS18(NM_199355.4):c.335T>G (p.L112R) - ADAMTS18_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341C>T r.(?) p.(Pro114Leu) Unknown - likely benign g.77465346G>A g.77431449G>A ADAMTS18(NM_199355.2):c.341C>T (p.(Pro114Leu)) - ADAMTS18_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389A>T r.(?) p.(Asp130Val) Unknown ACMG VUS g.77465298T>A g.77431401T>A ADAMTS18:NM_199355 c.A389T, p.D130V - ADAMTS18_000113 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-278 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
-/. - c.438G>C r.(?) p.(Gln146His) Unknown - benign g.77465249C>G g.77431352C>G ADAMTS18(NM_199355.3):c.438G>C (p.Q146H), ADAMTS18(NM_199355.4):c.438G>C (p.Q146H) - ADAMTS18_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.438G>C r.(?) p.(Gln146His) Unknown - VUS g.77465249C>G - ADAMTS18(NM_199355.3):c.438G>C (p.Q146H), ADAMTS18(NM_199355.4):c.438G>C (p.Q146H) - ADAMTS18_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483G>A r.(?) p.(Thr161=) Unknown - likely benign g.77465204C>T - ADAMTS18(NM_199355.3):c.483G>A (p.T161=) - ADAMTS18_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.517A>G r.(?) p.(Lys173Glu) Unknown - likely benign g.77401599T>C g.77367702T>C ADAMTS18(NM_199355.3):c.517A>G (p.K173E) - ADAMTS18_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.536C>T r.(?) p.(Ser179Leu) Both (homozygous) - pathogenic g.77401580G>A g.77367683G>A - - ADAMTS18_000005 not in 772 control chromosomes PubMed: Aldahmesh 2011, OMIM:var0001 - - Germline yes - - - - DNA SEQ, SEQ-NG - - KNO2 - PubMed: Aldahmesh 2011 2-generation faily, 1 affected F yes Saudi Arabia - >08y - - - 1 Johan den Dunnen
?/? 4 c.536C>T r.(?) p.(Ser179Leu) Parent #1 - pathogenic g.77401580G>A g.77367683G>A - - ADAMTS18_000005 - PubMed: Aldahmesh 2011, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - - 2-generation family, unafected carrier parents/sibling - - Saudi Arabia - - - - - 3 Johan den Dunnen
?/. - c.536C>T r.(?) p.(Ser179Leu) Unknown - VUS g.77401580G>A - ADAMTS18(NM_001326358.1):c.16C>T (p.R6C) - ADAMTS18_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.562G>A r.(?) p.(Glu188Lys) Unknown - likely benign g.77401554C>T g.77367657C>T ADAMTS18(NM_199355.3):c.562G>A (p.E188K), ADAMTS18(NM_199355.4):c.562G>A (p.E188K) - ADAMTS18_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.562G>A r.(?) p.(Glu188Lys) Unknown - benign g.77401554C>T - ADAMTS18(NM_199355.3):c.562G>A (p.E188K), ADAMTS18(NM_199355.4):c.562G>A (p.E188K) - ADAMTS18_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.571T>C r.(?) p.(Tyr191His) Unknown - benign g.77401545A>G g.77367648A>G ADAMTS18(NM_199355.4):c.571T>C (p.Y191H) - ADAMTS18_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.571T>C r.(?) p.(Tyr191His) Unknown - benign g.77401545A>G g.77367648A>G ADAMTS18(NM_199355.4):c.571T>C (p.Y191H) - ADAMTS18_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.601G>A r.(?) p.(Val201Ile) Unknown - benign g.77401515C>T g.77367618C>T ADAMTS18(NM_199355.3):c.601G>A (p.V201I), ADAMTS18(NM_199355.4):c.601G>A (p.V201I) - ADAMTS18_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.601G>A r.(?) p.(Val201Ile) Unknown - benign g.77401515C>T g.77367618C>T ADAMTS18(NM_199355.3):c.601G>A (p.V201I), ADAMTS18(NM_199355.4):c.601G>A (p.V201I) - ADAMTS18_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.605T>C r.(?) p.(Leu202Pro) Both (homozygous) - VUS g.77401511A>G g.77367614A>G g.67502G>C - ADAMTS18_000004 - submitted, Human Mutation - - Unknown yes - - - - DNA PCR - - MMCAT - - - - - - - - - - - 4 Anas M Alazami
?/. - c.664C>A r.(?) p.(Arg222=) Unknown - VUS g.77401452G>T g.77367555G>T ADAMTS18(NM_199355.4):c.664C>A (p.R222=) - ADAMTS18_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.715C>A r.(?) p.(Arg239=) Unknown - likely benign g.77401401G>T g.77367504G>T ADAMTS18(NM_001326358.1):c.195C>A (p.V65=) - ADAMTS18_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.766C>T r.(?) p.(Arg256*) Unknown - likely pathogenic g.77401350G>A - ADAMTS18(NM_199355.4):c.766C>T (p.R256*) - ADAMTS18_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.779-4G>A r.spl? p.? Unknown - likely benign g.77398282C>T g.77364385C>T ADAMTS18(NM_001326358.1):c.263-4G>A, ADAMTS18(NM_001326358.2):c.263-4G>A - ADAMTS18_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.779-4G>A r.spl? p.? Unknown - likely benign g.77398282C>T - ADAMTS18(NM_001326358.1):c.263-4G>A, ADAMTS18(NM_001326358.2):c.263-4G>A - ADAMTS18_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.813A>C r.(?) p.(Leu271=) Unknown - likely benign g.77398244T>G g.77364347T>G ADAMTS18(NM_001326358.1):c.297A>C (p.L99=) - ADAMTS18_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.936A>G r.(?) p.(Gly312=) Unknown - benign g.77398121T>C g.77364224T>C ADAMTS18(NM_199355.4):c.936A>G (p.G312=) - ADAMTS18_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.972+4A>G r.spl? p.? Unknown - benign g.77398081T>C g.77364184T>C ADAMTS18(NM_199355.4):c.972+4A>G - ADAMTS18_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972+6C>T r.(=) p.(=) Unknown - likely benign g.77398079G>A - ADAMTS18(NM_001326358.1):c.456+6C>T - ADAMTS18_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1027G>C r.(?) p.(Val343Leu) Unknown - VUS g.77397728C>G g.77363831C>G ADAMTS18(NM_199355.4):c.1027G>C (p.V343L) - ADAMTS18_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1057-3T>C r.spl? p.? Unknown - likely benign g.77396164A>G g.77362267A>G ADAMTS18(NM_001326358.1):c.541-3T>C - ADAMTS18_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1217-10C>G r.(=) p.(=) Unknown - likely benign g.77393330G>C g.77359433G>C ADAMTS18(NM_001326358.2):c.701-10C>G, ADAMTS18(NM_199355.4):c.1217-10C>G - ADAMTS18_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1218G>T r.(?) p.(Gly406=) Unknown - likely benign g.77393319C>A - ADAMTS18(NM_199355.4):c.1218G>T (p.G406=) - ADAMTS18_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1253G>A r.(?) p.(Arg418Gln) Unknown - VUS g.77393284C>T g.77359387C>T ADAMTS18(NM_001326358.1):c.737G>A (p.R246Q) - ADAMTS18_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1298C>A r.(?) p.(Thr433Asn) Unknown - likely pathogenic g.77393239G>T g.77359342G>T - - ADAMTS18_000108 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 14DG1964 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
-/. - c.1299C>T r.(?) p.(Thr433=) Unknown - benign g.77393238G>A g.77359341G>A ADAMTS18(NM_199355.4):c.1299C>T (p.T433=) - ADAMTS18_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1322+1G>C r.spl? p.? Unknown - likely pathogenic g.77393214C>G - ADAMTS18(NM_199355.4):c.1322+1G>C - ADAMTS18_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1322+8C>G r.(=) p.(=) Unknown - benign g.77393207G>C g.77359310G>C ADAMTS18(NM_199355.4):c.1322+8C>G - ADAMTS18_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1341= r.(=) p.(Asp447=) Unknown - benign g.77389956A>G g.77356059A>G ADAMTS18(NM_199355.4):c.1341T>C (p.D447=) - ADAMTS18_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1341= r.(=) p.(Asp447=) Unknown - benign g.77389956A>G g.77356059A>G ADAMTS18(NM_199355.4):c.1341T>C (p.D447=) - ADAMTS18_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1374C>G r.(?) p.(Gly458=) Unknown - benign g.77389923G>C g.77356026G>C ADAMTS18(NM_199355.4):c.1374C>G (p.G458=) - ADAMTS18_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1464A>C r.(?) p.(Thr488=) Unknown - likely benign g.77387780T>G - ADAMTS18(NM_001326358.1):c.948A>C (p.T316=) - ADAMTS18_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1473G>A r.(?) p.(Ala491=) Unknown - likely benign g.77387771C>T - ADAMTS18(NM_001326358.2):c.957G>A (p.A319=) - ADAMTS18_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1496A>G r.(?) p.(Lys499Arg) Unknown - likely benign g.77387748T>C g.77353851T>C ADAMTS18(NM_001326358.1):c.980A>G (p.K327R) - ADAMTS18_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1521G>A r.(?) p.(Pro507=) Unknown - likely benign g.77387723C>T g.77353826C>T ADAMTS18(NM_199355.4):c.1521G>A (p.P507=) - ADAMTS18_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1545T>C r.(?) p.(Tyr515=) Unknown - benign g.77387699A>G g.77353802A>G ADAMTS18(NM_199355.4):c.1545T>C (p.Y515=) - ADAMTS18_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1559A>G r.(?) p.(Gln520Arg) Both (homozygous) - likely pathogenic g.77387685T>C g.77353788T>C Allele 1 c.1559A>G (p.Gln520Arg), Allele 2 c.1559A>G (p.Gln520Arg) - ADAMTS18_000112 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
?/. - c.1600C>G r.(?) p.(Leu534Val) Unknown - VUS g.77387644G>C g.77353747G>C ADAMTS18(NM_001326358.1):c.1084C>G (p.L362V) - ADAMTS18_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1616A>G r.(?) p.(Asp539Gly) Unknown - likely benign g.77375695T>C g.77341798T>C ADAMTS18(NM_001326358.1):c.1100A>G (p.D367G), ADAMTS18(NM_199355.4):c.1616A>G (p.D539G) - ADAMTS18_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1616A>G r.(?) p.(Asp539Gly) Unknown - VUS g.77375695T>C - ADAMTS18(NM_001326358.1):c.1100A>G (p.D367G), ADAMTS18(NM_199355.4):c.1616A>G (p.D539G) - ADAMTS18_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1632T>G r.(?) p.(Leu544=) Unknown - benign g.77375679A>C g.77341782A>C ADAMTS18(NM_199355.4):c.1632T>G (p.L544=) - ADAMTS18_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1646T>C r.(?) p.(Val549Ala) Unknown - VUS g.77375665A>G - ADAMTS18(NM_001326358.1):c.1130T>C (p.V377A) - ADAMTS18_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1648G>C r.(?) p.(Gly550Arg) Unknown - VUS g.77375663C>G - ADAMTS18(NM_199355.4):c.1648G>C (p.G550R) - ADAMTS18_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1650C>G r.(?) p.(Gly550=) Unknown - likely benign g.77375661G>C - ADAMTS18(NM_001326358.1):c.1134C>G (p.G378=) - ADAMTS18_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1656G>A r.(?) p.(Arg552=) Unknown - likely benign g.77375655C>T g.77341758C>T ADAMTS18(NM_199355.4):c.1656G>A (p.R552=) - ADAMTS18_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1693G>A r.(?) p.(Val565Ile) Unknown - likely benign g.77375618C>T g.77341721C>T ADAMTS18(NM_199355.4):c.1693G>A (p.V565I) - ADAMTS18_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1710+7T>C r.(=) p.(=) Unknown - likely benign g.77375594A>G g.77341697A>G ADAMTS18(NM_199355.4):c.1710+7T>C - ADAMTS18_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 12 c.1731C>G r.(?) p.(Cys577Trp) Both (homozygous) - VUS g.77369781G>C g.77335884G>C g.99231C>G - ADAMTS18_000003 - submitted, Human Mutation - - Unknown yes - - - - DNA PCR - - MMCAT - - - - - - - - - - - 4 Anas M Alazami
-?/. - c.1740T>G r.(?) p.(Phe580Leu) Unknown - likely benign g.77369772A>C g.77335875A>C ADAMTS18(NM_001326358.1):c.1224T>G (p.F408L) - ADAMTS18_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1779C>T r.(?) p.(Ser593=) Unknown - likely benign g.77369733G>A g.77335836G>A ADAMTS18(NM_001326358.1):c.1263C>T (p.S421=) - ADAMTS18_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1780G>A r.(?) p.(Ala594Thr) Unknown - benign g.77369732C>T g.77335835C>T ADAMTS18(NM_199355.4):c.1780G>A (p.A594T) - ADAMTS18_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1847G>T r.(?) p.(Cys616Phe) Unknown - VUS g.77369665C>A - ADAMTS18(NM_199355.4):c.1847G>T (p.(Cys616Phe)) - ADAMTS18_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1876T>A r.(?) p.(Leu626Ile) Unknown - benign g.77359919A>T g.77326022A>T ADAMTS18(NM_199355.4):c.1876T>A (p.L626I) - ADAMTS18_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1876T>A r.(?) p.(Leu626Ile) Unknown - benign g.77359919A>T g.77326022A>T ADAMTS18(NM_199355.4):c.1876T>A (p.L626I) - ADAMTS18_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1902T>G r.(?) p.(Ile634Met) Unknown - benign g.77359893A>C g.77325996A>C ADAMTS18(NM_199355.4):c.1902T>G (p.I634M) - ADAMTS18_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1979G>A r.(?) p.(Ser660Asn) Unknown - likely benign g.77359816C>T g.77325919C>T ADAMTS18(NM_001326358.1):c.1463G>A (p.S488N), ADAMTS18(NM_199355.4):c.1979G>A (p.S660N) - ADAMTS18_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1979G>A r.(?) p.(Ser660Asn) Unknown - likely benign g.77359816C>T g.77325919C>T ADAMTS18(NM_001326358.1):c.1463G>A (p.S488N), ADAMTS18(NM_199355.4):c.1979G>A (p.S660N) - ADAMTS18_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1979G>A r.(?) p.(Ser660Asn) Unknown - likely benign g.77359816C>T - ADAMTS18(NM_001326358.1):c.1463G>A (p.S488N), ADAMTS18(NM_199355.4):c.1979G>A (p.S660N) - ADAMTS18_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1985C>G r.(?) p.(Pro662Arg) Parent #1 - VUS g.77359810G>C g.77325913G>C - - ADAMTS18_000106 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-071 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
-?/. - c.2021C>T r.(?) p.(Thr674Ile) Unknown - likely benign g.77359774G>A g.77325877G>A ADAMTS18(NM_199355.2):c.2021C>T (p.(Thr674Ile)) - ADAMTS18_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2060A>T r.(?) p.(Lys687Met) Unknown - VUS g.77356336T>A g.77322439T>A ADAMTS18(NM_001326358.1):c.1544A>T (p.K515M) - ADAMTS18_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 14 c.2065G>T r.(?) p.(Glu689*) Both (homozygous) - pathogenic g.77356331C>A g.77322434C>A g.112681G>T - ADAMTS18_000002 - submitted, Human Mutation - - Unknown yes - - - - DNA PCR - - MMCAT - - - - - - - - - - - 4 Anas M Alazami
-/. - c.2094C>T r.(?) p.(Ser698=) Unknown - benign g.77356302G>A g.77322405G>A ADAMTS18(NM_199355.4):c.2094C>T (p.S698=) - ADAMTS18_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2163+11G>A r.(=) p.(=) Unknown - likely benign g.77356222C>T - ADAMTS18(NM_001326358.2):c.1647+11G>A - ADAMTS18_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2190C>T r.(?) p.(Gly730=) Unknown - benign g.77355073G>A g.77321176G>A ADAMTS18(NM_001326358.1):c.1674C>T (p.G558=), ADAMTS18(NM_199355.4):c.2190C>T (p.G730=) - ADAMTS18_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2190C>T r.(?) p.(Gly730=) Unknown - benign g.77355073G>A g.77321176G>A ADAMTS18(NM_001326358.1):c.1674C>T (p.G558=), ADAMTS18(NM_199355.4):c.2190C>T (p.G730=) - ADAMTS18_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2287+7G>T r.(=) p.(=) Unknown - VUS g.77354969C>A - ADAMTS18(NM_199355.4):c.2287+7G>T - ADAMTS18_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2294A>G r.(?) p.(Tyr765Cys) Unknown - VUS g.77353984T>C g.77320087T>C ADAMTS18(NM_199355.2):c.2294A>G (p.(Tyr765Cys)) - ADAMTS18_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2305C>A r.(?) p.(Leu769Ile) Unknown - benign g.77353973G>T g.77320076G>T ADAMTS18(NM_199355.4):c.2305C>A (p.L769I) - ADAMTS18_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2349G>A r.(?) p.(Gln783=) Unknown - benign g.77353929C>T g.77320032C>T ADAMTS18(NM_001326358.1):c.1833G>A (p.Q611=), ADAMTS18(NM_199355.4):c.2349G>A (p.Q783=) - ADAMTS18_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2349G>A r.(?) p.(Gln783=) Unknown - benign g.77353929C>T g.77320032C>T ADAMTS18(NM_001326358.1):c.1833G>A (p.Q611=), ADAMTS18(NM_199355.4):c.2349G>A (p.Q783=) - ADAMTS18_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2380C>T r.(?) p.(Leu794Phe) Unknown - VUS g.77353898G>A - ADAMTS18(NM_001326358.1):c.1864C>T (p.L622F) - ADAMTS18_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2437C>A r.(?) p.(Pro813Thr) Unknown - VUS g.77353841G>T - ADAMTS18(NM_001326358.1):c.1921C>A (p.P641T) - ADAMTS18_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2476A>C r.(?) p.(Asn826His) Unknown - benign g.77353802T>G g.77319905T>G ADAMTS18(NM_199355.2):c.2476A>C (p.(Asn826His)), ADAMTS18(NM_199355.3):c.2476A>C (p.N826H), ADAMTS18(NM_199355.4):c.2476A>C (p.N826H) - ADAMTS18_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2476A>C r.(?) p.(Asn826His) Unknown - VUS g.77353802T>G g.77319905T>G ADAMTS18(NM_199355.2):c.2476A>C (p.(Asn826His)), ADAMTS18(NM_199355.3):c.2476A>C (p.N826H), ADAMTS18(NM_199355.4):c.2476A>C (p.N826H) - ADAMTS18_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2476A>C r.(?) p.(Asn826His) Unknown - likely benign g.77353802T>G g.77319905T>G ADAMTS18(NM_199355.2):c.2476A>C (p.(Asn826His)), ADAMTS18(NM_199355.3):c.2476A>C (p.N826H), ADAMTS18(NM_199355.4):c.2476A>C (p.N826H) - ADAMTS18_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2480G>T r.(?) p.(Arg827Leu) Unknown - likely benign g.77353798C>A g.77319901C>A ADAMTS18(NM_199355.3):c.2480G>T (p.R827L) - ADAMTS18_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2484G>A r.(?) p.(Pro828=) Unknown - VUS g.77353794C>T g.77319897C>T ADAMTS18(NM_199355.4):c.2484G>A (p.P828=) - ADAMTS18_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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