Full data view for gene ADAMTSL4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_019032.4 transcript reference sequence.

210 entries on 3 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     
-/. - c.-158-56T>C r.(=) p.(=) Parent #1 - benign g.150522242T>C g.150549766T>C - - ADAMTSL4_000023 - - - rs4971020 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+? - c.1del r.(?) p.(Met1?) Both (homozygous) - pathogenic g.150524765del g.150552289del - - ADAMTSL4_000025 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - ectopia lentis et pupillae P9 - - F yes Morocco - - - - - 1 Alessandra Maugeri
-?/. - c.108T>A r.(?) p.(Pro36=) Unknown - likely benign g.150525403T>A g.150552927T>A ADAMTSL4(NM_019032.6):c.108T>A (p.P36=) - ADAMTSL4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.130G>A r.(?) p.(Glu44Lys) Unknown - VUS g.150525425G>A g.150552949G>A - - ADAMTSL4_000013 - - - rs41317513 Unknown - MAF A=0,0156/34 - - - DNA SEQ - - ECTOL2 - - - M ? Germany - - - - - 1 Andreas Laner
-/. - c.130G>A r.(?) p.(Glu44Lys) Parent #1 - benign g.150525425G>A g.150552949G>A - - ADAMTSL4_000013 - - - rs41317513 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.130G>A r.(?) p.(Glu44Lys) Unknown - benign g.150525425G>A g.150552949G>A ADAMTSL4(NM_019032.4):c.130G>A (p.E44K) - ADAMTSL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.136G>A r.(?) p.(Val46Ile) Unknown - pathogenic g.150525431G>A g.150552955G>A - - ADAMTSL4_000016 cDNA analysis on PAX-RNA and lymphocyte culture +/- puromycin confirmed complex splicing aberration, cryptic SD and SA site is used r.134_344del. RNA stable, no NMD detecte in RNA prepared without puromycin and in PAX-RNA - - - Unknown - - - - - DNA, RNA SEQ - - ECTOL2 - - - F ? Germany german - - - - 1 Andreas Laner
?/. - c.166T>G r.(?) p.(Cys56Gly) Unknown - VUS g.150525461T>G - ADAMTSL4(NM_019032.6):c.166T>G (p.C56G) - ADAMTSL4_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232C>T r.(?) p.(Leu78Phe) Unknown - VUS g.150525527C>T - ADAMTSL4(NM_001288608.1):c.232C>T (p.L78F) - ADAMTSL4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255T>A r.(?) p.(Pro85=) Unknown - likely benign g.150525550T>A g.150553074T>A ADAMTSL4(NM_001288608.1):c.255T>A (p.P85=) - ADAMTSL4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.260G>C r.(?) p.(Arg87Pro) Unknown - VUS g.150525555G>C g.150553079G>C ADAMTSL4(NM_001288608.1):c.260G>C (p.R87P), ADAMTSL4(NM_019032.4):c.260G>C (p.(Arg87Pro)) - ADAMTSL4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.260G>C r.(?) p.(Arg87Pro) Unknown - likely benign g.150525555G>C g.150553079G>C ADAMTSL4(NM_001288608.1):c.260G>C (p.R87P), ADAMTSL4(NM_019032.4):c.260G>C (p.(Arg87Pro)) - ADAMTSL4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292C>T r.(?) p.(Arg98Trp) Unknown - VUS g.150525587C>T g.150553111C>T ADAMTSL4(NM_001288608.1):c.292C>T (p.R98W) - ADAMTSL4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346A>G r.(?) p.(Thr116Ala) Unknown - likely benign g.150525641A>G - ADAMTSL4(NM_001288608.1):c.346A>G (p.T116A) - ADAMTSL4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426G>A r.(?) p.(Ala142=) Unknown - likely benign g.150525721G>A g.150553245G>A ADAMTSL4(NM_001288608.1):c.426G>A (p.A142=) - ADAMTSL4_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.440G>A r.(?) p.(Arg147Gln) Unknown - VUS g.150525907G>A g.150553431G>A ADAMTSL4(NM_001288608.1):c.440G>A (p.R147Q) - ADAMTSL4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 5 c.577G>C r.(?) p.(Ala193Pro) Unknown - benign g.150526044G>C g.150553568G>C - - ADAMTSL4_000003 Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29) - - rs41317515 Unknown - MAF G=0.4431/964 - - - DNA SEQ - - ECTOL2 - - Two sisters and two nephews diagnosed with Ectopia lentis, the family is consanguine M yes Turkey - - - - - 1 Andreas Laner
-/- 5 c.577G>C r.(?) p.(Ala193Pro) Both (homozygous) - benign g.150526044G>C g.150553568G>C - - ADAMTSL4_000003 Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29) - - rs41317515 Unknown - MAF G=0.4431/964 - - - DNA SEQ - - ECTOL2 - - 1 family, 2 affected children (brother also affected) F ? Turkey - - - - - 1 Andreas Laner
-/- 5 c.577G>C r.(?) p.(Ala193Pro) Unknown - benign g.150526044G>C g.150553568G>C - - ADAMTSL4_000003 Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29) - - rs41317515 Unknown - MAF G=0.4431/964 - - - DNA SEQ - - ECTOL2 - - - M ? Germany - - - - - 1 Andreas Laner
-/- 5 c.577G>C r.(?) p.(Ala193Pro) Both (homozygous) - benign g.150526044G>C g.150553568G>C - - ADAMTSL4_000003 Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29) - - rs41317515 Unknown - MAF G=0.4431/964 - - - DNA SEQ - - ECTOL2 - - Consanguine parents - yes Turkey - - - - - 1 Andreas Laner
-/- 5 c.577G>C r.(?) p.(Ala193Pro) Unknown - benign g.150526044G>C g.150553568G>C - - ADAMTSL4_000003 Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29) - - rs41317515 Unknown - MAF G=0.4431/964 - - - DNA SEQ - - ECTOL2 - - - F ? Germany - - - - - 1 Andreas Laner
-/. - c.577G>C r.(?) p.(Ala193Pro) Parent #1 - benign g.150526044G>C g.150553568G>C - - ADAMTSL4_000003 - - - rs41317515 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.577G>C r.(?) p.(Ala193Pro) Unknown - benign g.150526044G>C g.150553568G>C ADAMTSL4(NM_019032.5):c.577G>C (p.A193P) - ADAMTSL4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584C>T r.(?) p.Pro195Leu Unknown ACMG VUS g.150526051C>T g.150553575C>T - - ADAMTSL4_000047 - - - rs139990606 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
?/. - c.584C>T r.(?) p.(Pro195Leu) Unknown - VUS g.150526051C>T - ADAMTSL4(NM_001288608.1):c.584C>T (p.P195L) - ADAMTSL4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667A>T r.(?) p.(Thr223Ser) Unknown - likely benign g.150526134A>T g.150553658A>T ADAMTSL4(NM_001288608.1):c.667A>T (p.T223S) - ADAMTSL4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.745del r.(?) p.(Leu249TyrfsTer21) Unknown - pathogenic g.150526212del g.150553736del ADAMTSL4(NM_019032.6):c.745delC (p.L249Yfs*21) - ADAMTSL4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.749G>A r.(?) p.(Arg250Gln) Unknown - likely benign g.150526216G>A g.150553740G>A ADAMTSL4(NM_001288608.1):c.749G>A (p.R250Q) - ADAMTSL4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.767_768del r.(?) p.(Gln256ArgfsTer44) Unknown ACMG pathogenic g.150526234_150526235del g.150553758_150553759del ADAMTSL4 c.767_768del het ADAMTSL4 c.2520dupC het - ADAMTSL4_000098 no protein change mentioned in the publication; heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15004571 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Both (homozygous) - pathogenic g.150526234_150526253del g.150553758_150553777del c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38) - ADAMTSL4_000001 - PubMed: Neuhann 2011 - - Germline - - - - - DNA SEQ - - ECTOL2 - - - M no Germany - - - - - 2 Andreas Laner
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Unknown - pathogenic g.150526234_150526253del g.150553758_150553777del c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38) - ADAMTSL4_000001 - PubMed: Neuhann 2011 - - Germline - - - - - DNA SEQ - - ECTOL2 - - 4 families, 5 Patients / father and mother heterozygous carriers M ? Germany - - - - - 4 Andreas Laner
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Both (homozygous) - pathogenic g.150526234_150526253del g.150553758_150553777del c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38) - ADAMTSL4_000001 - PubMed: Neuhann 2011 - - Germline - - - - - DNA SEQ - - ECTOL2 - - 4 families, 5 Patients / parents are heterozygous carriers of mutation F ? Germany - - - - - 4 Andreas Laner
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Both (homozygous) - pathogenic g.150526234_150526253del g.150553758_150553777del c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38) - ADAMTSL4_000001 - PubMed: Neuhann 2011 - - Germline - - - - - DNA SEQ - - ECTOL2 - - 4 families, 5 Patients / no other signs of marfan-syndrome F ? Germany - - - - - 5 Andreas Laner
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Unknown - pathogenic g.150526234_150526253del g.150553758_150553777del c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38) - ADAMTSL4_000001 - PubMed: Neuhann 2011 - - Germline - - - - - DNA SEQ - - ECTOL2 - - 1 family, 1 affected child M ? - - - - - - 1 Andreas Laner
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Unknown - pathogenic g.150526234_150526253del g.150553758_150553777del c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38) - ADAMTSL4_000001 Foundermutation (Neuhann (2011) Invest Ophthalmol Vis Sci 52: 695) - - - Germline - - mgz-muenchen-al - - DNA, RNA SEQ - - ECTOL2 - - - F ? Germany german - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.(Gln256Profs*38) Parent #1 - pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000001 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Both (homozygous) - pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000001 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - ECTOL2 P1 - - M no Netherlands - - - - - 1 Alessandra Maugeri
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Both (homozygous) - pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000001 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - ectopia lentis et pupillae P2 - - M yes Netherlands - - - - - 1 Alessandra Maugeri
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Both (homozygous) - pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000001 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - ectopia lentis et pupillae P3 - - M no Netherlands - - - - - 1 Alessandra Maugeri
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Both (homozygous) - pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000001 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - ECTOL2 P4 - - M no Netherlands - - - - - 1 Alessandra Maugeri
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Both (homozygous) - pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000001 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - ectopia lentis et pupillae P5 - - M no Netherlands - - - - - 1 Alessandra Maugeri
+/+ 6 c.767_786del r.(?) p.(Gln256Profs*38) Both (homozygous) - pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000001 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - ectopia lentis et pupillae P6 - - F no France - - - - - 1 Alessandra Maugeri
+/. - c.767_786del r.(?) p.(Gln256ProfsTer38) Unknown - pathogenic g.150526234_150526253del g.150553758_150553777del ADAMTSL4(NM_001288608.1):c.767_786delAGGCCTCTGGCACAGAGCCC (p.Q256Pfs*38), ADAMTSL4(NM_019032.6):c.767_786delAGGCCTCTGGCACAGAGCCC (p.Q256Pfs*38) - ADAMTSL4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.767_786del r.(?) p.Gln256Profs*38 Both (homozygous) ACMG pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000030 Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695 identified in eight individuals from seven unrelated families in homozygous state, haplotype analysis suggest a founder mutation Aragon-Martin ; 2010. Hum Mutat 31: 1622 found in patients with ectopia lentis in homozygous and compound heterozygous state; ACMG grading: PP5,PVS1,PM2,PM3 - - rs587691401 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.Gln256Profs*38 Unknown ACMG pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000030 Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis.; ACMG grading: PVS1,PS2,PP1; compound heterozygous with c.2270del p.Gly757Valfs*62 - - rs587691401 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.Gln256Profs*38 Unknown ACMG pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000030 Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis.; ACMG grading: PVS1,PP1,PS2; unaffected carrier - - rs587691401 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.Gln256Profs*38 Unknown ACMG pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000030 ACMG grading: PS2,PP1,PVS1; unaffected carrier; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis. - - rs587691401 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.Gln256Profs*38 Unknown ACMG pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000030 ACMG grading: PVS1,PP1,PS2; unaffected carrier; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis. - - rs587691401 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.Gln256Profs*38 Unknown ACMG pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000030 ACMG grading: PVS1,PP1,PS2; unaffected carrier; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis. - - rs587691401 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.Gln256Profs*38 Unknown ACMG pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000030 ACMG grading: PVS1,PP1,PS2; unaffected carrier. Patient has probable causative variant SCN1A c.1259C>T p.(Ala420Val) heterozygous; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis. - - rs587691401 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.Gln256Profs*38 Unknown ACMG pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000030 ACMG grading: PS2,PP1,PVS1; unaffected carrier; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis. - - rs587691401 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.Gln256Profs*38 Unknown ACMG pathogenic g.150526234_150526253del g.150553758_150553777del - - ADAMTSL4_000030 ACMG grading: PS2,PP1,PVS1; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis. - - rs587691401 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.767_786del r.(?) p.(Gln256ProfsTer38) Unknown - pathogenic g.150526234_150526253del g.150553758_150553777del ADAMTSL4(NM_001288608.1):c.767_786delAGGCCTCTGGCACAGAGCCC (p.Q256Pfs*38), ADAMTSL4(NM_019032.6):c.767_786delAGGCCTCTGGCACAGAGCCC (p.Q256Pfs*38) - ADAMTSL4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.767_786del r.(?) p.(Gln256ProfsTer38) Both (homozygous) ACMG pathogenic g.150526234_150526253del g.150553758_150553777del ADAMTSL4 c.767_786del hom - ADAMTSL4_000001 no protein change mentioned in the publication; homozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 14000821 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.767_786del r.(?) p.(Gln256ProfsTer38) Unknown ACMG pathogenic g.150526234_150526253del g.150553758_150553777del ADAMTSL4 c.2236C>T p.(Arg746Cys) het ADAMTSL4 c.767_786del p.(Gln256ProfsTer38) het - ADAMTSL4_000001 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 13008723 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-?/. - c.803C>T r.(?) p.(Ser268Phe) Unknown - likely benign g.150526270C>T g.150553794C>T ADAMTSL4(NM_019032.6):c.803C>T (p.S268F) - ADAMTSL4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 6 c.844C>T r.(?) p.(Arg282*) Unknown - pathogenic g.150526311C>T g.150553835C>T - - ADAMTSL4_000009 - - - - Germline - - - - - DNA SEQ - - ECTOL2 - - 1 family, 1 affected child M ? - - - - - - 1 Andreas Laner
+/. - c.844C>T r.(?) p.(Arg282*) Parent #1 - pathogenic g.150526311C>T g.150553835C>T - - ADAMTSL4_000009 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ - c.925C>T r.(?) p.(Arg309*) Both (homozygous) - pathogenic g.150526392C>T g.150553916C>T - - ADAMTSL4_000027 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - ECTOL2 P7 - - M no Netherlands - - - - - 1 Alessandra Maugeri
-?/-? 6 c.926G>A r.(?) p.(Arg309Gln) Unknown - likely benign g.150526393G>A g.150553917G>A - - ADAMTSL4_000012 Patient has 2 probably pathogenic mutations in ADAMTSL4 - - rs76075180 Unknown - MAF A 0,039/84 - - - DNA SEQ - - ECTOL2 - - 1 family, 1 affected child M no Germany - - - - - 1 Andreas Laner
-/. - c.926G>A r.(?) p.(Arg309Gln) Parent #1 - benign g.150526393G>A g.150553917G>A - - ADAMTSL4_000012 - - - rs76075180 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 6 c.939C>T r.(?) p.(=) Unknown - benign g.150526406C>T g.150553930C>T - - ADAMTSL4_000004 - - - rs6681639 Unknown - MAF T = 0.367/79 - - - DNA SEQ - - ECTOL2 - - Two sisters and two nephews diagnosed with Ectopia lentis, the family is consanguine M yes Turkey - - - - - 1 Andreas Laner
-/- 6 c.939C>T r.(?) p.(=) Both (homozygous) - benign g.150526406C>T g.150553930C>T - - ADAMTSL4_000004 - - - rs6681639 Unknown - MAF T = 0.367/79 - - - DNA SEQ - - ECTOL2 - - 1 family, 2 affected children (brother also affected) F ? Turkey - - - - - 1 Andreas Laner
-/- 6 c.939C>T r.(?) p.(=) Unknown - benign g.150526406C>T g.150553930C>T - - ADAMTSL4_000004 - - - rs6681639 Unknown - MAF T = 0.367/79 - - - DNA SEQ - - ECTOL2 - - - M ? Germany - - - - - 1 Andreas Laner
-/- 6 c.939C>T r.(?) p.(=) Unknown - benign g.150526406C>T g.150553930C>T - - ADAMTSL4_000004 - - - rs6681639 Unknown - MAF T = 0.367/79 - - - DNA SEQ - - ECTOL2 - - - F ? Germany - - - - - 1 Andreas Laner
-/. - c.939C>T r.(=) p.(=) Parent #1 - benign g.150526406C>T g.150553930C>T - - ADAMTSL4_000004 - - - rs6681639 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.939C>T r.(?) p.(Gly313=) Unknown - benign g.150526406C>T g.150553930C>T ADAMTSL4(NM_019032.6):c.939C>T (p.G313=) - ADAMTSL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960G>A r.(?) p.(Gly320=) Unknown - likely benign g.150526427G>A - ADAMTSL4(NM_001288608.1):c.960G>A (p.G320=) - ADAMTSL4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.963dup r.(?) p.Thr322Aspfs*10 Unknown ACMG likely pathogenic g.150526430dup g.150553954dup - - ADAMTSL4_000048 compound heterozygous with c.1480C>T p.Arg494* - - rs748115277 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.963dup r.(?) p.(Thr322AspfsTer10) Unknown - pathogenic g.150526430dup g.150553954dup ADAMTSL4(NM_001288608.1):c.963dupG (p.T322Dfs*10), ADAMTSL4(NM_019032.6):c.963dupG (p.T322Dfs*10) - ADAMTSL4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.963dup r.(?) p.(Thr322AspfsTer10) Unknown - pathogenic g.150526430dup g.150553954dup ADAMTSL4(NM_001288608.1):c.963dupG (p.T322Dfs*10), ADAMTSL4(NM_019032.6):c.963dupG (p.T322Dfs*10) - ADAMTSL4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.963dup r.(?) p.(Thr322Aspfs*10) Paternal (confirmed) - pathogenic g.150526430dup - - - ADAMTSL4_000048 - - - - Germline - - - - - DNA SEQ-NG blood gene panel ECTOL2 EENT-ADL4-001 - - F no China Chinese - - - - 1 Zexu Chen
+/. - c.963dup r.(?) p.(Thr322Aspfs*10) Maternal (confirmed) ACMG pathogenic g.150526430dup g.150553954dup - - ADAMTSL4_000048 - - - - Germline - - - - - DNA SEQ-NG blood gene panel ECTOL2 EENT-ADL4-006 - - M - China - - - - - 1 Zexu Chen
+/. - c.966del r.(?) p.(Pro323Leufs*20) Paternal (confirmed) ACMG pathogenic g.150526433del g.150553957del - - ADAMTSL4_000103 - - - - Germline - - - - - DNA SEQ-NG blood gene panel ECTOL2 EENT-ADL4-005 - - M no China Chinese - - - - 1 Zexu Chen
-?/. - c.972C>T r.(?) p.(His324=) Unknown - likely benign g.150526439C>T - ADAMTSL4(NM_001288608.1):c.972C>T (p.H324=) - ADAMTSL4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6 c.1007G>A r.(?) p.(Gly336Asp) Unknown - likely benign g.150526474G>A g.150553998G>A - - ADAMTSL4_000002 Not conserved nucleotide (phyloP: -0.52 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Moderate physicochemical difference between Gly and Asp (Grantham dist.: 94 [0-215]) Align GVGD: C0 (GV: 114.13 - GD: 0.00)SIFT: Tolerated (score: 1) - - rs142354320 Unknown - MAF A=0.0018/4 - - - DNA SEQ - - ECTOL2 - - Two sisters and two nephews diagnosed with Ectopia lentis, the family is consanguine M yes Turkey - - - - - 1 Andreas Laner
-/. - c.1007G>A r.(?) p.(Gly336Asp) Parent #1 - benign g.150526474G>A g.150553998G>A - - ADAMTSL4_000002 - - - rs142354320 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.1040A>G r.(?) p.(His347Arg) Unknown - VUS g.150526507A>G - ADAMTSL4(NM_001288608.1):c.1040A>G (p.H347R) - ADAMTSL4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1130C>A r.(?) p.(Ala377Glu) Unknown - likely benign g.150526597C>A g.150554121C>A ADAMTSL4(NM_001288608.1):c.1130C>A (p.A377E) - ADAMTSL4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1132-54C>A r.(=) p.(=) Parent #1 - benign g.150526787C>A g.150554311C>A - - ADAMTSL4_000024 - - - rs4131523 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.1142C>G r.(?) p.(Pro381Arg) Unknown - VUS g.150526851C>G - ADAMTSL4(NM_001288608.1):c.1142C>G (p.P381R) - ADAMTSL4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 6 c.1162dup r.(?) p.(Ala388Glyfs*8) Both (homozygous) - NA g.150526871dup g.150554395dup c.1162dupG - ADAMTSL4_000007 - - - - In vitro (cloned) - - - - - DNA SEQ - - ECTOL2 - - 1 family, 2 affected children (brother also affected) F ? Turkey - - - - - 1 Andreas Laner
+/. - c.1162dup r.(?) p.(Ala388Glyfs*8) Parent #1 - pathogenic g.150526871dup g.150554395dup - - ADAMTSL4_000007 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1179C>T r.(?) p.(Ala393=) Unknown - likely benign g.150526888C>T - ADAMTSL4(NM_001288608.1):c.1179C>T (p.A393=) - ADAMTSL4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1186T>C r.(?) p.(Ser396Pro) Unknown - likely benign g.150526895T>C g.150554419T>C ADAMTSL4(NM_001288608.1):c.1186T>C (p.S396P) - ADAMTSL4_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1203_1204del r.(?) p.(Gln402AlafsTer9) Unknown - pathogenic g.150526912_150526913del g.150554436_150554437del ADAMTSL4(NM_019032.6):c.1203_1204delCC (p.Q402Afs*9) - ADAMTSL4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1210dup r.(?) p.(Tyr404Leufs*8) Maternal (confirmed) - pathogenic g.150526919dup - - - ADAMTSL4_000101 - - - - Germline yes - - - - DNA SEQ-NG blood gene panel ECTOL2 EENT-ADL4-001 - - F no China Chinese - - - - 1 Zexu Chen
-?/. - c.1234+116C>T r.(=) p.(=) Unknown - likely benign g.150527059C>T g.150554583C>T ADAMTSL4(NM_001288608.1):c.1252C>T (p.R418C) - ADAMTSL4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1265G>A r.(?) p.Cys422Tyr Unknown ACMG VUS g.150527935G>A g.150555459G>A - - ADAMTSL4_000049 ACMG grading: PM2,PP3; co-occurence with pathogenic variant c.3079C>T p.(Gln1027*) - - rs757903395 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
?/. - c.1265G>A r.(?) p.Cys422Tyr Unknown ACMG VUS g.150527935G>A g.150555459G>A - - ADAMTSL4_000049 ACMG grading: PP3,PM2; compound heterozygous with c.2270del p.Gly757Valfs*62 - - rs757903395 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
?/. - c.1363C>T r.(?) p.(Arg455Cys) Unknown - VUS g.150528033C>T g.150555557C>T ADAMTSL4(NM_001288608.1):c.1432C>T (p.R478C) - ADAMTSL4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1371+2T>C r.(?) p.? Unknown ACMG likely pathogenic g.150528043T>C g.150555567T>C - - ADAMTSL4_000050 ACMG grading: PVS1,PM2; unaffected carrier - - rs780517182 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
-/. - c.1371+51_1371+54dup r.(=) p.(=) Parent #1 - benign g.150528092_150528095dup g.150555616_150555619dup - - ADAMTSL4_000022 - - - rs10687239 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1371+81_1371+84dup r.(=) p.(=) Parent #1 - benign g.150528122_150528125dup g.150555646_150555649dup - - ADAMTSL4_000019 - - - rs10687240 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.1372-7_1372-4del r.spl? p.? Unknown - VUS g.150528631_150528634del g.150556155_150556158del ADAMTSL4(NM_001288608.1):c.1441-7_1441-4delTCTC - ADAMTSL4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1480C>T r.(?) p.Arg494* Unknown ACMG likely pathogenic g.150528746C>T g.150556270C>T - - ADAMTSL4_000051 compound heterozygous with c.963dup p.Thr322Aspfs*10 - - - Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
-?/. - c.1545T>A r.(?) p.(Ile515=) Unknown - likely benign g.150528811T>A - ADAMTSL4(NM_001288608.1):c.1614T>A (p.I538=) - ADAMTSL4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1576+43G>A r.(=) p.(=) Parent #1 - benign g.150528885G>A g.150556409G>A - - ADAMTSL4_000020 - - - rs12119250 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.1598_1602dup r.(?) p.(Ile535Glyfs*52) Both (homozygous) ACMG pathogenic g.150529118_150529122dup g.150556642_150556646dup 1602_1603insGGTCC - ADAMTSL4_000104 - - - - Germline yes - - - - DNA SEQ-NG blood gene panel ECTOL2 EENT-ADL4-004 - - F yes China Chinese - - - - 1 Zexu Chen
+/. - c.1749+1G>A r.spl? p.? Paternal (confirmed) ACMG pathogenic g.150529270G>A - - - ADAMTSL4_000107 - - - - Germline yes - - - - DNA SEQ-NG blood gene panel ECTOL2 EENT-ADL4-009 - - M - China - - - - - 1 Zexu Chen
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