Full data view for gene SGSH

An NCL gene variant database
Information The variants shown are described using the NM_000199.3 transcript reference sequence.

345 entries on 4 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.-2434G>T r.(?) p.(=) Unknown - likely benign g.78196546C>A - SLC26A11(NM_173626.3):c.327C>A (p.S109=) - SGSH_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1315C>T r.(?) p.(=) Unknown - VUS g.78195427G>A g.80221628G>A SLC26A11(NM_001166347.2):c.68G>A (p.C23Y) - SLC26A11_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_5i c.-687_664-23del r.0? p.0? Parent #2 - pathogenic (recessive) g.78187707_78194799del g.80213908_80221000del g.75802301_75809393del - SGSH_000042 - PubMed: Ouesleti 2011 - - Germline - - - - - DNA SEQ - - ? Pat2A PubMed: Ouesleti 2011 - - no Tunisia Kairouan - - - - 1 Johan den Dunnen
+/. _1_5i c.-687_664-23del r.0? p.0? Both (homozygous) - pathogenic (recessive) g.78187707_78194799del g.80213908_80221000del g.75802301_75809393del - SGSH_000042 - PubMed: Ouesleti 2011 - - Germline - - - - - DNA SEQ - - ? Pat7A PubMed: Ouesleti 2011 - - yes Tunisia Kairouan - - - - 1 Johan den Dunnen
+?/. - c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic (recessive) g.78194112T>C g.80220313T>C - - SGSH_000198 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-1 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.78194111A>G g.80220312A>G - - SGSH_000038 - PubMed: Ouesleti 2011 - - Germline - - - - - DNA SEQ - - ? Pat1A PubMed: Ouesleti 2011 - - yes Tunisia Sfax - - - - 1 Johan den Dunnen
+/. 1 c.2T>C r.? p.? Unknown - pathogenic g.78194111A>G - c.2T>C - SGSH_000038 - PubMed: Ousleti-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Ousleti-2011 Novel - yes Tunisia Sfax - - - - 1 LOVD
+/. 1 c.2T>C r.? p.? Unknown - pathogenic g.78194111A>G - c.2T>C - SGSH_000038 - PubMed: Ousleti-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Ousleti-2011 Novel - yes Tunisia Sfax - - - - 1 LOVD
+/. - c.29dup r.(?) p.(Leu11Alafs*22) Both (homozygous) - pathogenic (recessive) g.78194084dup g.80220285dup - - SGSH_000040 - PubMed: Ouesleti 2011 - - Germline - - - - - DNA SEQ - - ? Pat4A PubMed: Ouesleti 2011 - - yes Tunisia Tunis - - - - 1 Johan den Dunnen
+/. 1 c.29dup r.(?) p.(Leu11Alafs*22) Unknown - pathogenic g.78194084dup - c.29dup - SGSH_000040 - PubMed: Ousleti-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Ousleti-2011 - - yes Tunisia Tunis - - - - 1 LOVD
+/. 1 c.29dup r.(?) p.(Leu11Alafs*22) Unknown - pathogenic g.78194084dup - c.29dup - SGSH_000040 - PubMed: Ousleti-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Ousleti-2011 - - yes Tunisia Tunis - - - - 1 LOVD
?/. 1 c.83T>C r.(?) p.(Leu28Pro) Parent #1 - VUS g.78194030A>G g.80220231A>G - - SGSH_000123 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4682 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.88G>A r.(?) p.(Ala30Thr) Unknown - VUS g.78194025C>T - SGSH(NM_001352921.1):c.88G>A (p.A30T) - SGSH_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.88G>C r.(?) p.(Ala30Pro) Parent #1 - likely pathogenic (recessive) g.78194025C>G g.80220226C>G - - SGSH_000197 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-2 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.90G>A r.(?) p.(=) Unknown - VUS g.78190990C>T - SGSH(NM_000199.5):c.90G>A (p.(Ala30=)) - SGSH_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.96C>A r.(?) p.(Asp32Glu) Paternal (inferred) - likely pathogenic g.78190984G>T g.80217185G>T - - SGSH_000010 another variant affecting this amino acid is described as pathogenic: c.95A>G p.(D32G); the father of the patient (not symptomatic) carries this probably pathogenic variant as well as the pathogenic variant c.1207_1209del p.(Y403del) but is, the two variants are therfore thought to be on one allele (not confirmed) - - - Germline - - - - - DNA SEQ - - MPS3A - - - M - - - - - - - 1 Dr. Alexandra Wey-Fabrizius
+?/. - c.97G>A r.(?) p.(Gly33Arg) Both (homozygous) - likely pathogenic (recessive) g.78190983C>T g.80217184C>T - - SGSH_000196 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-3 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.111T>A r.(?) p.(Ser37Arg) Both (homozygous) ACMG likely pathogenic g.78190969A>T - - - SGSH_000122 - - - - Germline - - - - - DNA SEQ-NG - - MPS3A, SPG11 - - - - - - - - - - - 1 Anju Shukla
+?/. - c.149_169del r.(?) p.(Leu50_Ser57delinsArg) Parent #1 - likely pathogenic (recessive) g.78190911_78190931del g.80217112_80217132del 149_169del21 - SGSH_000195 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-4 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.163C>T r.(?) p.(Arg55Cys) Unknown - VUS g.78190917G>A - SGSH(NM_001352921.1):c.163C>T (p.R55C) - SGSH_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177C>T r.(?) p.(Leu59=) Unknown - likely benign g.78190903G>A - SGSH(NM_001352921.1):c.177C>T (p.L59=) - SGSH_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197C>G r.(?) p.(Ser66Trp) Unknown - VUS g.78190883G>C g.80217084G>C - - SGSH_000008 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.197C>G r.(?) p.(Ser66Trp) Unknown - pathogenic g.78190883G>C g.80217084G>C SGSH(NM_000199.4):c.197C>G (p.S66W), SGSH(NM_000199.5):c.197C>G (p.S66W) - SGSH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.197C>G r.(?) p.(Ser66Trp) Unknown - pathogenic g.78190883G>C g.80217084G>C SGSH(NM_000199.4):c.197C>G (p.S66W), SGSH(NM_000199.5):c.197C>G (p.S66W) - SGSH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.197C>G r.(?) p.(Ser66Trp) Both (homozygous) - pathogenic (recessive) g.78190883G>C g.80217084G>C - - SGSH_000008 - PubMed: Ouesleti 2011 - - Germline - - - - - DNA SEQ - - ? Pat5A PubMed: Ouesleti 2011 - - yes Tunisia Bizerte - - - - 1 Johan den Dunnen
+/. 2 c.197C>G r.(?) p.(Ser66Trp) Unknown - pathogenic g.78190883G>C - c.197C>G - SGSH_000008 - PubMed: Ousleti-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Ousleti-2011 Reference:Blanch L. et al 1997 - yes Tunisia Bizerte - - - - 1 LOVD
+/. 2 c.197C>G r.(?) p.(Ser66Trp) Unknown - pathogenic g.78190883G>C - c.197C>G - SGSH_000008 - PubMed: Ousleti-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Ousleti-2011 Reference:Blanch L. et al 1997 - yes Tunisia Bizerte - - - - 1 LOVD
+/. - c.197C>G r.(?) p.(Ser66Trp) Unknown - pathogenic g.78190883G>C - SGSH(NM_000199.4):c.197C>G (p.S66W), SGSH(NM_000199.5):c.197C>G (p.S66W) - SGSH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.197C>G r.(?) p.(Ser66Trp) Both (homozygous) - pathogenic (recessive) g.78190883G>C g.80217084G>C - - SGSH_000008 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-10 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients - - United States - - - - - 2 Johan den Dunnen
+/. - c.197C>G r.(?) p.(Ser66Trp) Parent #2 - pathogenic (recessive) g.78190883G>C g.80217084G>C - - SGSH_000008 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-8 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients - - United States - - - - - 2 Johan den Dunnen
+/. 2 c.220C>T r.(?) p.(Arg74Cys) Maternal (confirmed) - pathogenic g.78190860G>A g.80217061G>A - - SGSH_000011 - - - rs104894636 Germline - - - - - DNA SEQ - - MPS3A - - - M - - - - - - - 1 Dr. Alexandra Wey-Fabrizius
+/. - c.220C>T r.(?) p.(Arg74Cys) Unknown - pathogenic g.78190860G>A g.80217061G>A SGSH(NM_000199.4):c.220C>T (p.R74C), SGSH(NM_000199.5):c.220C>T (p.R74C) - SGSH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.220C>T r.(?) p.(Arg74Cys) Unknown - pathogenic g.78190860G>A g.80217061G>A SGSH(NM_000199.4):c.220C>T (p.R74C), SGSH(NM_000199.5):c.220C>T (p.R74C) - SGSH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220C>T r.(?) p.(Arg74Cys) Paternal (confirmed) - VUS g.78190860G>A - - - SGSH_000011 - PubMed: Kaiwar 2017 - - Germline ? - - - - DNA SEQ-NG - - BBSOAS Case 2 PubMed: Kaiwar 2017 - F ? - - - - - - 1 Benjamin Billiet
+/. - c.220C>T r.(?) p.(Arg74Cys) Unknown - pathogenic g.78190860G>A - SGSH(NM_000199.4):c.220C>T (p.R74C), SGSH(NM_000199.5):c.220C>T (p.R74C) - SGSH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220C>T r.(?) p.(Arg74Cys) Parent #2 - VUS g.78190860G>A g.80217061G>A - - SGSH_000011 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-8 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients - - United States - - - - - 2 Johan den Dunnen
+?/. - c.221G>A r.(?) p.(Arg74His) Unknown - likely pathogenic g.78190859C>T - - - SGSH_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235A>C r.(?) p.(Thr79Pro) Parent #2 - VUS g.78190845T>G g.80217046T>G - - SGSH_000194 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-14 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients - - United States - - - - - 2 Johan den Dunnen
-/. - c.250-26C>T r.(=) p.(=) Unknown - benign g.78188963G>A g.80215164G>A SGSH(NM_000199.4):c.250-26C>T - SGSH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.265_269del r.(?) p.(Tyr89AlafsTer45) Parent #1 - likely pathogenic (recessive) g.78188919_78188923del g.80215120_80215124del 265_269delTACGG - SGSH_000193 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-5 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.276C>G r.(?) p.(His92Gln) Unknown - VUS g.78188911G>C - SGSH(NM_000199.5):c.276C>G (p.(His92Gln)) - SGSH_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.301_303del r.(?) p.(Phe101del) Parent #1 - likely pathogenic (recessive) g.78188885_78188887del g.80215086_80215088del 301_303delTTC - SGSH_000192 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-6 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.308A>G r.(?) p.(Lys103Arg) Parent #1 - VUS g.78188879T>C g.80215080T>C - - SGSH_000199 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat34 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
?/. - c.344G>T r.(?) p.(Gly115Val) Unknown - VUS g.78188843C>A g.80215044C>A SGSH(NM_000199.4):c.344G>T (p.G115V) - SGSH_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.349C>T r.(?) p.(Arg117Cys) Unknown - VUS g.78188838G>A - SGSH(NM_000199.5):c.349C>T (p.(Arg117Cys)) - SGSH_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>T r.(?) p.(Arg117Leu) Unknown - VUS g.78188837C>A g.80215038C>A SGSH(NM_001352921.3):c.350G>T (p.R117L) - SGSH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356-6G>A r.(=) p.(=) Unknown - likely benign g.78188570C>T - SGSH(NM_000199.5):c.356-6G>A - SGSH_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364G>A r.(?) p.(Gly122Arg) Unknown - pathogenic g.78188556C>T g.80214757C>T SGSH(NM_000199.4):c.364G>A (p.G122R), SGSH(NM_000199.5):c.364G>A (p.G122R) - SGSH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364G>A r.(?) p.(Gly122Arg) Unknown - pathogenic g.78188556C>T g.80214757C>T SGSH(NM_000199.4):c.364G>A (p.G122R), SGSH(NM_000199.5):c.364G>A (p.G122R) - SGSH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364G>A r.(?) p.(Gly122Arg) Parent #2 - pathogenic (recessive) g.78188556C>T g.80214757C>T - - SGSH_000035 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-1 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.376dup r.(?) p.(Val126GlyfsTer10) Unknown - pathogenic g.78188544dup g.80214745dup SGSH(NM_000199.4):c.376dupG (p.V126Gfs*10) - SGSH_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.376dup r.(?) p.(Val126GlyfsTer10) Unknown - pathogenic g.78188544dup - SGSH(NM_000199.4):c.376dupG (p.V126Gfs*10) - SGSH_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391G>A r.(?) p.(Val131Met) Unknown - VUS g.78188529C>T g.80214730C>T - - SGSH_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.408_444dup r.(?) p.(Gly149CysfsTer18) Parent #1 - likely pathogenic (recessive) g.78188476_78188512dup g.80214677_80214713dup 408_444dup37 - SGSH_000191 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-7 PubMed: Pollard 2013, PubMed: Pollard 2016 family, 2 affected sibs - - United States - - - - - 2 Johan den Dunnen
-/. - c.411G>A r.(?) p.(Ala137=) Unknown - benign g.78188509C>T g.80214710C>T SGSH(NM_000199.4):c.411G>A (p.A137=), SGSH(NM_000199.5):c.411G>A (p.A137=) - SGSH_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411G>A r.(?) p.(Ala137=) Unknown - likely benign g.78188509C>T g.80214710C>T SGSH(NM_000199.4):c.411G>A (p.A137=), SGSH(NM_000199.5):c.411G>A (p.A137=) - SGSH_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.449G>A r.(?) p.(Arg150Gln) Unknown - pathogenic g.78188471C>T g.80214672C>T SGSH(NM_000199.4):c.449G>A (p.R150Q) - SGSH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>G r.(?) p.(Thr165Ser) Unknown - likely benign g.78188426G>C - SGSH(NM_001352921.1):c.494C>G (p.T165S) - SGSH_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.506+3A>G r.spl? p.? Unknown - VUS g.78188411T>C - SGSH(NM_000199.5):c.506+3A>G - SGSH_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507-7C>T r.(=) p.(=) Unknown - likely benign g.78188134G>A - SGSH(NM_000199.3):c.507-7C>T (p.(=)), SGSH(NM_001352921.1):c.507-7C>T - SGSH_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507-7C>T r.(=) p.(=) Unknown - likely benign g.78188134G>A - SGSH(NM_000199.3):c.507-7C>T (p.(=)), SGSH(NM_001352921.1):c.507-7C>T - SGSH_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.508C>G r.(?) p.(Pro170Ala) Unknown - VUS g.78188126G>C g.80214327G>C SGSH(NM_000199.3):c.508C>G (p.(Pro170Ala)) - SGSH_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522C>T r.(?) p.(Tyr174=) Unknown - benign g.78188112G>A - SGSH(NM_000199.5):c.522C>T (p.(Tyr174=)), SGSH(NM_001352921.3):c.522C>T (p.Y174=) - SGSH_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522C>T r.(?) p.(Tyr174=) Unknown - likely benign g.78188112G>A - SGSH(NM_000199.5):c.522C>T (p.(Tyr174=)), SGSH(NM_001352921.3):c.522C>T (p.Y174=) - SGSH_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.544C>T r.(?) p.(Arg182Cys) Parent #1 - pathogenic (recessive) g.78188090G>A g.80214291G>A - - SGSH_000202 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat33 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
?/. - c.545G>A r.(?) p.(Arg182His) Unknown - VUS g.78188089C>T g.80214290C>T - - SGSH_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.563C>T r.(?) p.(Pro188Leu) Unknown - VUS g.78188071G>A - SGSH(NM_000199.5):c.563C>T (p.(Pro188Leu)) - SGSH_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.571G>A r.(?) p.(Gly191Arg) Unknown - pathogenic g.78188063C>T g.80214264C>T SGSH(NM_000199.4):c.571G>A (p.G191R) - SGSH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.571G>A r.(?) p.(Gly191Arg) Parent #2 - likely pathogenic g.78188063C>T g.80214264C>T - - SGSH_000032 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4682 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 5 c.571G>A r.(?) p.(Gly191Arg) Parent #1 - pathogenic (recessive) g.78188063C>T g.80214264C>T - - SGSH_000032 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat34 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
+?/. - c.582T>A r.(?) p.(Cys194Ter) Parent #1 - likely pathogenic (recessive) g.78188052A>T g.80214253A>T - - SGSH_000190 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-8 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients - - United States - - - - - 2 Johan den Dunnen
?/. - c.598G>A r.(?) p.(Gly200Arg) Unknown - VUS g.78188036C>T g.80214237C>T SGSH(NM_001352921.1):c.598G>A (p.G200R) - SGSH_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.614G>T r.(?) p.(Gly205Val) Unknown - likely pathogenic g.78188020C>A - - - SGSH_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.617G>A r.(?) p.(Arg206His) Unknown - likely benign g.78188017C>T - SGSH(NM_000199.3):c.617G>A (p.(Arg206His)) - SGSH_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641C>A r.(?) p.(Ala214Asp) Unknown - VUS g.78187993G>T g.80214194G>T SGSH(NM_000199.4):c.641C>A (p.A214D), SGSH(NM_000199.5):c.641C>A (p.A214D) - SGSH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.641C>A r.(?) p.(Ala214Asp) Unknown - likely benign g.78187993G>T g.80214194G>T SGSH(NM_000199.4):c.641C>A (p.A214D), SGSH(NM_000199.5):c.641C>A (p.A214D) - SGSH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.658G>T r.(?) p.(Val220Leu) Unknown - likely benign g.78187976C>A g.80214177C>A SGSH(NM_000199.3):c.658G>T (p.(Val220Leu)) - SGSH_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658G>T r.(?) p.(Val220Leu) Both (homozygous) - VUS g.78187976C>A g.80214177C>A - - SGSH_000092 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150508741 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.663+17T>C r.(=) p.(=) Unknown - benign g.78187954A>G g.80214155A>G SGSH(NM_000199.4):c.663+17T>C, SGSH(NM_000199.5):c.663+17T>C, SGSH(NM_001352921.3):c.663+17T>C - SGSH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663+17T>C r.(=) p.(=) Unknown - benign g.78187954A>G g.80214155A>G SGSH(NM_000199.4):c.663+17T>C, SGSH(NM_000199.5):c.663+17T>C, SGSH(NM_001352921.3):c.663+17T>C - SGSH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663+17T>C r.(=) p.(=) Unknown - benign g.78187954A>G g.80214155A>G SGSH(NM_000199.4):c.663+17T>C, SGSH(NM_000199.5):c.663+17T>C, SGSH(NM_001352921.3):c.663+17T>C - SGSH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663+17T>C r.(=) p.(=) Unknown - benign g.78187954A>G g.80214155A>G SGSH(NM_000199.4):c.663+17T>C, SGSH(NM_000199.5):c.663+17T>C, SGSH(NM_001352921.3):c.663+17T>C - SGSH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663+17T>C r.(=) p.(=) Unknown - benign g.78187954A>G - SGSH(NM_000199.4):c.663+17T>C, SGSH(NM_000199.5):c.663+17T>C, SGSH(NM_001352921.3):c.663+17T>C - SGSH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.664-39_664-36delinsGC r.(=) p.(=) Unknown - benign g.78187720_78187723delinsGC g.80213921_80213924delinsGC SGSH(NM_000199.4):c.664-39_664-36delCTGTinsGC - SGSH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701C>G r.(?) p.(Ala234Gly) Unknown - VUS g.78187647G>C g.80213848G>C - - SGSH_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.701C>G r.(?) p.(Ala234Gly) Unknown - benign g.78187647G>C g.80213848G>C SGSH(NM_000199.4):c.701C>G (p.A234G) - SGSH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701C>G r.(?) p.(Ala234Gly) Unknown - VUS g.78187647G>C - SGSH(NM_000199.4):c.701C>G (p.A234G) - SGSH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734G>A r.(?) p.(Arg245His) Unknown - VUS g.78187614C>T g.80213815C>T - - SGSH_000003 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 7 c.734G>A r.(?) p.(Arg245His) Both (homozygous) - pathogenic g.78187614C>T g.80213815C>T 746G>A - SGSH_000003 protein analysis (LC-MS/MS) brain SGSH absent PubMed: Sleat 2009 - - Germline - - - - - DNA, protein MS, SEQ - - MPS3A UMB563 PubMed: Sleat 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? - - 11y4m - - - 1 Sara Mole
+/. - c.734G>A r.(?) p.(Arg245His) Unknown - pathogenic g.78187614C>T g.80213815C>T SGSH(NM_000199.3):c.734G>A (p.(Arg245His)), SGSH(NM_000199.4):c.734G>A (p.R245H), SGSH(NM_001352921.3):c.734G>A (p.R245H) - SGSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.734G>A r.(?) p.(Arg245His) Unknown - pathogenic g.78187614C>T g.80213815C>T SGSH(NM_000199.3):c.734G>A (p.(Arg245His)), SGSH(NM_000199.4):c.734G>A (p.R245H), SGSH(NM_001352921.3):c.734G>A (p.R245H) - SGSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.734G>A r.(?) p.(Arg245His) Unknown - pathogenic g.78187614C>T g.80213815C>T SGSH(NM_000199.3):c.734G>A (p.(Arg245His)), SGSH(NM_000199.4):c.734G>A (p.R245H), SGSH(NM_001352921.3):c.734G>A (p.R245H) - SGSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.734G>A r.(?) p.(Arg245His) Unknown - pathogenic g.78187614C>T - SGSH(NM_000199.3):c.734G>A (p.(Arg245His)), SGSH(NM_000199.4):c.734G>A (p.R245H), SGSH(NM_001352921.3):c.734G>A (p.R245H) - SGSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.734G>A r.(?) p.(Arg245His) Parent #2 - pathogenic (recessive) g.78187614C>T g.80213815C>T - - SGSH_000003 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-2 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.734G>A r.(?) p.(Arg245His) Parent #2 - pathogenic (recessive) g.78187614C>T g.80213815C>T - - SGSH_000003 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-6 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.734G>A r.(?) p.(Arg245His) Parent #2 - pathogenic (recessive) g.78187614C>T g.80213815C>T - - SGSH_000003 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-7 PubMed: Pollard 2013, PubMed: Pollard 2016 family, 2 affected sibs - - United States - - - - - 2 Johan den Dunnen
+/. - c.734G>A r.(?) p.(Arg245His) Parent #2 - pathogenic (recessive) g.78187614C>T g.80213815C>T - - SGSH_000003 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-9 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.734G>A r.(?) p.(Arg245His) Parent #2 - pathogenic (recessive) g.78187614C>T g.80213815C>T - - SGSH_000003 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-14 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients - - United States - - - - - 2 Johan den Dunnen
+/. - c.734G>A r.(?) p.(Arg245His) Parent #2 - pathogenic (recessive) g.78187614C>T g.80213815C>T - - SGSH_000003 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-18 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.734G>A r.(?) p.(Arg245His) Parent #2 - pathogenic (recessive) g.78187614C>T g.80213815C>T - - SGSH_000003 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS SGSH-19 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
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