Full data view for gene DSE

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_013352.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     

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.-112346G>C r.(?) p.(=) - - Unknown - benign g.116579992G>C g.116258829G>C - - DSE_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-92178G>A r.(?) p.(=) - - Unknown - likely benign g.116600160G>A g.116278997G>A TSPYL1(NM_003309.3):c.834C>T (p.F278=) - DSE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-92101G>A r.(?) p.(=) - - Unknown - likely benign g.116600237G>A g.116279074G>A TSPYL1(NM_003309.3):c.757C>T (p.L253=) - DSE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-91522G>T r.(?) p.(=) - - Unknown - likely benign g.116600816G>T g.116279653G>T TSPYL1(NM_003309.3):c.178C>A (p.P60T) - DSE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-91443G>A r.(?) p.(=) - - Unknown - likely benign g.116600895G>A g.116279732G>A TSPYL1(NM_003309.3):c.99C>T (p.Y33=) - DSE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.74C>T r.(?) p.(Thr25Ile) - - Unknown - benign g.116720487C>T g.116399324C>T DSE(NM_013352.3):c.74C>T (p.T25I) - DSE_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.74C>T r.(?) p.(Thr25Ile) - - Unknown - benign g.116720487C>T g.116399324C>T DSE(NM_013352.3):c.74C>T (p.T25I) - DSE_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.101C>T r.(?) p.(Pro34Leu) - - Unknown - benign g.116720514C>T g.116399351C>T DSE(NM_013352.3):c.101C>T (p.P34L) - DSE_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.101C>T r.(?) p.(Pro34Leu) - - Parent #1 - benign g.116720514C>T g.116399351C>T - - DSE_000023 190 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35548455 Germline - 190/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 190 Mohammed Faruq
-/. - c.101C>T r.(?) p.(Pro34Leu) - - Both (homozygous) - benign g.116720514C>T g.116399351C>T - - DSE_000023 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35548455 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
-?/. - c.114C>T r.(?) p.(Ala38=) - - Unknown - likely benign g.116720527C>T g.116399364C>T DSE(NM_013352.3):c.114C>T (p.A38=) - DSE_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.209G>A r.(?) p.(Arg70His) - - Unknown - benign g.116720622G>A g.116399459G>A DSE(NM_013352.3):c.209G>A (p.R70H) - DSE_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 3 c.647delG r.? p.(Gly216Glufs*3) frameshift deletion Both (homozygous) - likely pathogenic g.116747967delG - - - DSE_000007 - PubMed: Ranza et al., 2017 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - EDS, EDSMC Patient 18 PubMed: Ranza 2017 The patient initially had an unknown clinical diagnosis, and was reclassified due to the discovery of the variants. The technique used was whole exome sequencing. - - Morocco Moroccan - 0 - - 1 Raymond Dalgleish
-?/. - c.693A>G r.(?) p.(Leu231=) - - Unknown - likely benign g.116752139A>G g.116430976A>G DSE(NM_013352.3):c.693A>G (p.L231=) - DSE_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.711G>C r.(?) p.(Leu237=) - - Unknown - benign g.116752157G>C g.116430994G>C DSE(NM_013352.3):c.711G>C (p.L237=) - DSE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.799A>G r.(?) p.(Arg267Gly) - - Both (homozygous) - pathogenic (recessive) g.116752245A>G g.116431082A>G - - DSE_000002 - PubMed: Syx 2015 - - Germline yes - - 0 - DNA SEQ - - EDS P6 PubMed: Syx 2015 2-generation family, 2 affected sisters (2F) F no Spain - - 0 - - 2 Sofie Symoens
+/. - c.799A>G r.(?) p.(Arg267Gly) - - Both (homozygous) - pathogenic (recessive) g.116752245A>G g.116431082A>G - - DSE_000002 - PubMed: Syx 2015 - - Germline yes - - 0 - DNA SEQ - - EDS P7 PubMed: Syx 2015 - F no Spain - - 0 - - 1 Sofie Symoens
+/. - c.803C>T r.(?) p.(Ser268Leu) - - Both (homozygous) - pathogenic (recessive) g.116752249C>T g.116431086C>T - - DSE_000001 - PubMed: Müller 2013 - - Germline - - - 0 - DNA SEQ - - EDS FamPat1 PubMed: Müller 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India - - 0 - - 1 Johan den Dunnen
-/. - c.844A>G r.(?) p.(Ile282Val) - - Unknown - benign g.116752290A>G g.116431127A>G DSE(NM_013352.3):c.844A>G (p.I282V) - DSE_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.844A>G r.(?) p.(Ile282Val) - - Parent #1 - benign g.116752290A>G g.116431127A>G - - DSE_000028 97 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34994230 Germline - 97/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 97 Mohammed Faruq
?/. - c.935C>T r.(?) p.(Ala312Val) - - Unknown - VUS g.116754530C>T g.116433367C>T DSE(NM_013352.3):c.935C>T (p.A312V) - DSE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.960T>A r.? p.(Tyr320*) nonsense substitution Both (homozygous) - pathogenic g.116754555T>A - - - DSE_000005 - PubMed: Lautrup 2020 - - Unknown - - - 0 - DNA SEQ - - EDS, EDSMC Patient 1 PubMed: Lautrup 2020 The patient's urine sample was analysed, showing a lack of dermatan sulfate dissacharide. The patient was born of consanguineous parents. - - Turkey Turkish - 0 - - 1 Raymond Dalgleish
+?/+? 5 c.996dupT r.? p.(Val333Cysfs*4) frameshift duplication Both (homozygous) - likely pathogenic g.116754591dupT - - - DSE_000006 - PubMed: Lautrup 2020 - - Unknown - - - 0 - DNA SEQ - - EDS, EDSMC Patient 2 PubMed: Lautrup 2020 The patient has an older brother (Patient 3) who also carries the same variants and displays the phenotype. They were born of consanguineous parents. - - India Indian - 0 - - 1 Raymond Dalgleish
-/. - c.1118+15G>A r.(=) p.(=) - - Unknown - benign g.116754728G>A g.116433565G>A DSE(NM_013352.3):c.1118+15G>A - DSE_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1142T>C r.(?) p.(Val381Ala) - - Unknown - benign g.116756773T>C g.116435610T>C DSE(NM_013352.3):c.1142T>C (p.V381A) - DSE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1142T>C r.(?) p.(Val381Ala) - - Unknown - benign g.116756773T>C - DSE(NM_013352.3):c.1142T>C (p.V381A) - DSE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.1150_1157del r.? p.(Pro384Trpfs*9) frameshift deletion Both (homozygous) - likely pathogenic g.116756781_116756788del - - - DSE_000003 - PubMed: Schirwani 2020 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - EDS, EDSMC Patient 1 PubMed: Schirwani 2020 The variant is presumed to be a true homozygote, but sequencing of the patient's parents was not feasible. The technique used was whole exome sequencing. - - Portugal Portuguese - 0 - - 1 Raymond Dalgleish
-?/. - c.1170A>G r.(?) p.(Thr390=) - - Unknown - likely benign g.116756801A>G g.116435638A>G DSE(NM_013352.3):c.1170A>G (p.T390=) - DSE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173G>A r.(?) p.(Leu391=) - - Unknown - likely benign g.116756804G>A g.116435641G>A DSE(NM_013352.3):c.1173G>A (p.L391=) - DSE_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1653G>A r.(?) p.(Leu551=) - - Unknown - likely benign g.116757284G>A g.116436121G>A DSE(NM_013352.3):c.1653G>A (p.L551=) - DSE_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.1763A>G r.? p.(His588Arg) missense substitution Both (homozygous) - likely pathogenic g.116757394A>G - - - DSE_000004 - PubMed: Schirwani 2020 - - Unknown - - - 0 - DNA SEQ-NG, SEQ - - EDS, EDSMC Patient 2 PubMed: Schirwani 2020 The variant is predicted by in silico analysis to be damaging at a highly conserved amino acid, but there is no functional evidence. The technique used was the custom exome panel. - - Pakistan Pakistani - 0 - - 1 Raymond Dalgleish
?/. - c.1841A>G r.(?) p.(Tyr614Cys) - - Unknown - VUS g.116757472A>G - - - DSE_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1926= r.(=) p.(Asn642=) - - Unknown - benign g.116757557T>C g.116436394T>C DSE(NM_013352.3):c.1926T>C (p.N642=) - DSE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2005A>G r.(?) p.(Ile669Val) - - Unknown - likely benign g.116757636A>G g.116436473A>G DSE(NM_013352.3):c.2005A>G (p.I669V) - DSE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ - c.2601C>A r.(?) p.(Tyr867*) nonsense substitution Both (homozygous) - pathogenic g.116758232C>A g.116437069C>A - - DSE_000032 - - - - Germline - - - 0 - DNA SEQ-NG-IT blood - EDSMC2 - - - M yes Japan - - 0 - - 1 Tomoki Kosho
-/. - c.2619_2621del r.(?) p.(Gly874del) - - Unknown - benign g.116758250_116758252del g.116437087_116437089del DSE(NM_013352.3):c.2619_2621delGGG (p.G874del) - DSE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2813T>A r.(?) p.(Val938Asp) - - Both (homozygous) - likely pathogenic (recessive) g.116758444T>A g.116437281T>A - - DSE_000031 - PubMed: Ullah 2021 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES EDS FamPatV1 PubMed: Ullah 2021 5-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - 5 Johan den Dunnen
+?/. - c.2813T>A r.(?) p.(Val938Asp) - - Both (homozygous) - likely pathogenic (recessive) g.116758444T>A g.116437281T>A - - DSE_000031 - PubMed: Ullah 2021 - - Germline yes - - 0 - DNA SEQ - - EDS FamPatV2 PubMed: Ullah 2021 sister of PatV1 F yes Pakistan - - 0 - - 1 Johan den Dunnen
+?/. - c.2813T>A r.(?) p.(Val938Asp) - - Both (homozygous) - likely pathogenic (recessive) g.116758444T>A g.116437281T>A - - DSE_000031 - PubMed: Ullah 2021 - - Germline yes - - 0 - DNA SEQ - - EDS FamPatV3 PubMed: Ullah 2021 brother of PatV1 M yes Pakistan - - 0 - - 1 Johan den Dunnen
+?/. - c.2813T>A r.(?) p.(Val938Asp) - - Both (homozygous) - likely pathogenic (recessive) g.116758444T>A g.116437281T>A - - DSE_000031 - PubMed: Ullah 2021 - - Germline yes - - 0 - DNA SEQ - - EDS FamPatV4 PubMed: Ullah 2021 niece of PatV1 F yes Pakistan - - 0 - - 1 Johan den Dunnen
+?/. - c.2813T>A r.(?) p.(Val938Asp) - - Both (homozygous) - likely pathogenic (recessive) g.116758444T>A g.116437281T>A - - DSE_000031 - PubMed: Ullah 2021 - - Germline yes - - 0 - DNA SEQ - - EDS FamPatV5 PubMed: Ullah 2021 sister of PatV4 F yes Pakistan - - 0 - - 1 Johan den Dunnen
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