Full data view for gene IDUA

Information The variants shown are described using the NM_000203.3 transcript reference sequence.

355 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     
./. _1_14_ c.-909321_*2377456del r.0 p.0 Unknown - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+/. _1_2i c.(?_-88)_(299+1_300-1)del r.0? p.0? Parent #2 - pathogenic g.(?_980785)_(981738_994399)del - - - IDUA_000062 - - - - Germline - - - 0 - DNA MLPA - - MPS-1H - - - F no - - - 0 - - 1 Jill Urquhart
+?/. _1_14_ c.(?_-88)_(*136_?)del r.(?) p.0? Parent #1 - likely pathogenic g.(?_980785)_(998317_?)del - - - IDUA_000061 - - - - Germline - - - 0 - DNA MLPA - - MPS-1H - - - F no - - - 0 - - 1 Jill Urquhart
?/. - c.-72G>C r.(?) p.(=) Unknown - VUS g.980801G>C g.987013G>C - - IDUA_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.[562T>C;1269C>A] r.(?) p.[Phe188Leu; Ser423Arg] Both (homozygous) - VUS g.[995324T>C;996599C>A] - - - IDUA_000015 Gain of methylation at Ser423, Allele carrying 2 novel mutations in cis, note that the second change occurs in exon 9 and it was previously reported as single allele as due to c.1269C>G by {PMID15300847:Yogalingam et al 2004} PubMed: Bertola 2011 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bertola 2011 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.1A>C r.(?) p.(Met1?) Both (homozygous) - VUS g.980873A>C g.987085A>C - - IDUA_000001 Protein published as p.(Met1?), mutation previously reported as due to a c.3G>A by {PMID9391892:Lee-Chen and Wang 1997} PubMed: Bertola 2011 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bertola 2011 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
+/. 1 c.1A>G r.(?) p.0? Both (homozygous) - pathogenic g.980873A>G g.987085A>G - - IDUA_000056 - - - - Germline - - - 0 - DNA SEQ - - MPS-1H - - - - - India - - 0 - - 1 Arunabha Ghosh
+/. 1 c.17_24dup r.(?) p.(Ala9Profs*102) Unknown - pathogenic g.980889_980896dup g.987101_987108dup 17_24dupCCCGCGCC - IDUA_000057 - - - - Germline - - - 0 - DNA SEQ - - MPS-1HS - - - M - United Kingdom (Great Britain) - - 0 - - 1 Arunabha Ghosh
-/. - c.24C>A r.(?) p.(Ala8=) Unknown - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.2):c.576+4020G>T, SLC26A1(NM_134425.3):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.24C>A r.(?) p.(Ala8=) Unknown - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.2):c.576+4020G>T, SLC26A1(NM_134425.3):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.24C>A r.(?) p.(Ala8=) Unknown - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.2):c.576+4020G>T, SLC26A1(NM_134425.3):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.24C>A r.(?) p.(Ala8=) Unknown - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.2):c.576+4020G>T, SLC26A1(NM_134425.3):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>T r.(?) p.(Ala12=) Unknown - likely benign g.980908G>T - IDUA(NM_000203.5):c.36G>T (p.A12=) - IDUA_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.36_44del r.(?) p.(Leu13_Ala15del) Unknown - likely pathogenic g.980908_980916del g.987120_987128del 36_44delGCTCCTGGC - IDUA_000058 - - - - Germline - - - 0 - DNA SEQ - - MPS-1H - - - M - United Kingdom (Great Britain) - - 0 - - 1 Arunabha Ghosh
?/. - c.36_44dup r.(?) p.(Leu13_Ala15dup) Unknown - VUS g.980908_980916dup - IDUA(NM_000203.5):c.36_44dupGCTCCTGGC (p.L13_A15dup) - IDUA_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.41T>G r.(?) p.(Leu14Arg) Unknown - likely pathogenic g.980913T>G g.987125T>G - - IDUA_000059 - - - - Germline - - - 0 - DNA SEQ - - MPS-1H - - - M - United Kingdom (Great Britain) - - 0 - - 1 Arunabha Ghosh
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Parent #1 - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Parent #1 - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Parent #1 - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Bunge 1994 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Both (homozygous) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bunge 1994 - - - Turkey Turkish - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Both (homozygous) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bunge 1994 - - - Turkey Turkish - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) Parent #2 - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
+/. - c.46_57del r.(?) p.(Ser16_Ala19del) Unknown - pathogenic g.980918_980929del g.987130_987141del IDUA(NM_000203.5):c.46_57delTCGCTCCTGGCC (p.S16_A19del) - IDUA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.60G>A r.(?) p.(Ala20=) Unknown - likely benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.2):c.576+3984C>T, SLC26A1(NM_134425.3):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Ala20=) Unknown - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.2):c.576+3984C>T, SLC26A1(NM_134425.3):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Ala20=) Unknown - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.2):c.576+3984C>T, SLC26A1(NM_134425.3):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Ala20=) Unknown - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.2):c.576+3984C>T, SLC26A1(NM_134425.3):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Ala20=) Unknown - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.2):c.576+3984C>T, SLC26A1(NM_134425.3):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99T>G r.(?) p.(His33Gln) Unknown - benign g.980971T>G g.987183T>G IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.2):c.576+3945A>C, SLC26A1(NM_134425.3):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.99T>G r.(?) p.(His33Gln) Unknown - benign g.980971T>G g.987183T>G IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.2):c.576+3945A>C, SLC26A1(NM_134425.3):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.99T>G r.(?) p.(His33Gln) Unknown - benign g.980971T>G g.987183T>G IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.2):c.576+3945A>C, SLC26A1(NM_134425.3):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.141G>C r.(?) p.(Trp47Cys) Unknown - VUS g.981013G>C g.987225G>C IDUA(NM_000203.5):c.141G>C (p.W47C) - IDUA_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Both (homozygous) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Both (homozygous) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) Parent #1 - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bunge 1994 - - - Spain Spanish - 0 - - 1 Gerard C.P. Schaafsma
+/. - c.152G>A r.(?) p.(Gly51Asp) Parent #1 - pathogenic g.981024G>A g.987236G>A - - IDUA_000002 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794726877 Germline - 6/2775 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
+/. 1i c.158+1G>A r.spl p.? Unknown - pathogenic g.981031G>A g.987243G>A - - IDUA_000066 - - - - Germline - - - 0 - DNA SEQ - - MPS-1H - - - F - United Kingdom (Great Britain) - - 0 - - 1 Arunabha Ghosh
+/. - c.158+1G>A r.spl? p.? Unknown - pathogenic g.981031G>A g.987243G>A IDUA(NM_000203.5):c.158+1G>A - IDUA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.164del r.(?) p.(Pro55ArgfsTer53) Unknown - pathogenic g.981602del - IDUA(NM_000203.5):c.164delC (p.P55Rfs*53) - IDUA_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.164dup r.(?) p.(Leu56AlafsTer7) Unknown - pathogenic g.981602dup g.987814dup IDUA(NM_000203.5):c.164dupC (p.L56Afs*7) - IDUA_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.165dup r.(?) p.(Leu56AlafsTer7) Unknown - pathogenic g.981603dup g.987815dup IDUA(NM_000203.5):c.165dupG (p.L56Afs*7) - IDUA_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.192C>A r.(?) p.(Tyr64Ter) Unknown - pathogenic g.981630C>A g.987842C>A IDUA(NM_000203.5):c.192C>A (p.Y64*) - IDUA_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Scott 1992 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Scott 1992 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Spain Spanish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Spain Spanish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Spain Spanish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Turkey Turkish - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #1 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Hungary Hungarian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Both (homozygous) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1H - PubMed: Scott 1992 - - - Serbia Serbian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) Parent #2 - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bertola 2011 - - - Turkey Turkish - 0 - - 1 Gerard C.P. Schaafsma
+/. 2 c.208C>T r.(?) p.(Gln70*) Unknown - pathogenic g.981646C>T g.987858C>T - - IDUA_000004 - - - rs121965020 Germline - - - 0 - DNA SEQ - - MPS-1H - - - ? - United Kingdom (Great Britain) - - 0 - - 1 Arunabha Ghosh
+/. 2 c.208C>T r.(?) p.(Gln70*) Unknown - pathogenic g.981646C>T g.987858C>T - - IDUA_000004 - - - rs121965020 Germline - - - 0 - DNA SEQ - - MPS-1H - - - M - Latvia - - 0 - - 1 Arunabha Ghosh
+/. - c.208C>T r.(?) p.(Gln70Ter) Unknown - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.208C>T r.(?) p.(Gln70Ter) Unknown - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.208C>T r.(?) p.(Gln70Ter) Unknown - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.208C>T r.(?) p.(Gln70*) Paternal (inferred) - pathogenic (recessive) g.981646C>T g.987858C>T - - IDUA_000004 maternal segmental isodisomy chromosome 4 Labrijn-Marks et al, submitted - - Uniparental disomy, maternal allele - - - 0 - DNA SEQ blood - MPS-1 PatA Labrijn-Marks et al, submitted - - - Netherlands - - 0 - - 1 Marianne Hoogeveen-Westerveld
+/. 2 c.208C>T r.(?) p.(Gln70*) Maternal (confirmed) - pathogenic (recessive) g.981646C>T g.987858C>T - - IDUA_000004 - Labrijn-Marks et al, submitted - - Germline - - - 0 - DNA SEQ blood - MPS-1 PatA Labrijn-Marks et al, submitted - - - Netherlands - - 0 - - 1 Marianne Hoogeveen-Westerveld
+/. - c.208C>T r.(?) p.(Gln70Ter) Unknown - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.208C>T r.(?) p.(Gln70Ter) Unknown - pathogenic g.981646C>T - IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.227A>G r.(?) p.(Tyr76Cys) Parent #2 - VUS g.981665A>G g.987877A>G - - IDUA_000005 - PubMed: Bertola 2011 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Scott 1992 - - - Poland Polish - 0 - - 1 Gerard C.P. Schaafsma
-?/. - c.235G>A r.(?) p.(Ala79Thr) Unknown - likely benign g.981673G>A g.987885G>A IDUA(NM_000203.3):c.235G>A (p.(Ala79Thr)), IDUA(NM_000203.5):c.235G>A (p.A79T) - IDUA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.235G>A r.(?) p.(Ala79Thr) Unknown - benign g.981673G>A - IDUA(NM_000203.3):c.235G>A (p.(Ala79Thr)), IDUA(NM_000203.5):c.235G>A (p.A79T) - IDUA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237C>T r.(?) p.(Ala79=) Unknown - likely benign g.981675C>T - IDUA(NM_000203.5):c.237C>T (p.A79=) - IDUA_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238G>A r.(?) p.(Val80Ile) Unknown - likely benign g.981676G>A g.987888G>A - - IDUA_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246C>G r.(?) p.(His82Gln) Unknown - likely benign g.981684C>G g.987896C>G IDUA(NM_000203.5):c.246C>G (p.H82Q), SLC26A1(NM_213613.4):c.*937G>C - IDUA_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.246C>G r.(?) p.(His82Gln) Unknown - VUS g.981684C>G g.987896C>G IDUA(NM_000203.5):c.246C>G (p.H82Q), SLC26A1(NM_213613.4):c.*937G>C - IDUA_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.246C>G r.(?) p.(His82Gln) Unknown - VUS g.981684C>G - IDUA(NM_000203.5):c.246C>G (p.H82Q), SLC26A1(NM_213613.4):c.*937G>C - IDUA_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.250G>C r.(?) p.(Gly84Arg) Parent #1 - VUS g.981688G>C g.987900G>C - - IDUA_000006 Gain of binding site and disruption to protein structure PubMed: Bertola 2011 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bertola 2011 - - - Greece Greek - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.265C>T r.(?) p.(Arg89Trp) Parent #2 - VUS g.981703C>T g.987915C>T - - IDUA_000007 - PubMed: Bunge 1995 - - Germline - - - 0 - DNA SEQ - - Scheie;MPS-1S - PubMed: Bunge 1994 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.265C>T r.(?) p.(Arg89Trp) Parent #1 - VUS g.981703C>T g.987915C>T - - IDUA_000007 - PubMed: Bunge 1995 - - Germline - - - 0 - DNA SEQ - - MPS-1HS - PubMed: Bunge 1995 - - - Italy Italian - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.266G>C r.(?) p.(Arg89Pro) Unknown - VUS g.981704G>C g.987916G>C - - IDUA_000063 - - - - Germline - - - 0 - DNA SEQ - - MPS-1H - - - - - Germany - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.299+6C>T r.(=) p.(=) Unknown - likely benign g.981743C>T g.987955C>T IDUA(NM_000203.3):c.299+6C>T (p.(=)), IDUA(NM_000203.5):c.299+6C>T, SLC26A1(NM_213613.4):c.*878G>A - IDUA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.299+6C>T r.(=) p.(=) Unknown - benign g.981743C>T g.987955C>T IDUA(NM_000203.3):c.299+6C>T (p.(=)), IDUA(NM_000203.5):c.299+6C>T, SLC26A1(NM_213613.4):c.*878G>A - IDUA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.299+6C>T r.(=) p.(=) Unknown - benign g.981743C>T g.987955C>T IDUA(NM_000203.3):c.299+6C>T (p.(=)), IDUA(NM_000203.5):c.299+6C>T, SLC26A1(NM_213613.4):c.*878G>A - IDUA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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