Full data view for gene DYM

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

54 entries on 1 page. Showing entries 1 - 54.
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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.59T>A r.0 p.0 Both (homozygous) - pathogenic (recessive) g.46956706A>T g.49430336A>T - - DYM_000038 no transcript detected PubMed: Abdullah 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMC family PubMed: Abdullah 2020 5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 9 Johan den Dunnen
+/. - c.208C>T r.(?) p.(Arg70*) Unknown - pathogenic g.46906114G>A - - - DYM_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.239_246del r.(?) p.(Phe81*) Parent #1 - likely pathogenic (recessive) g.46906076_46906083del g.49379706_49379713del NM_017653.3:c.242_249del - DYM_000027 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2350 PubMed: Maddirevula 2018 isolated case M no - - - - - - 1 LOVD
+?/. - c.272C>G r.(?) p.(Ser91*) Parent #1 - likely pathogenic g.46906050G>C g.49379680G>C - - DYM_000017 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205513 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.272C>G r.(?) p.(Ser91*) Both (homozygous) - likely pathogenic (recessive) g.46906050G>C g.49379680G>C NM_017653.3:c.272C>G:p.(Ser91*) - DYM_000017 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG0239 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
+/. - c.302G>A r.(?) p.(Trp101*) Both (homozygous) - likely pathogenic (recessive) g.46905056C>T g.49378686C>T NM_017653.3:c.302G>A:p.(Trp101*) - DYM_000026 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0791 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.302G>A r.(?) p.(Trp101*) Both (homozygous) - likely pathogenic (recessive) g.46905056C>T g.49378686C>T NM_017653.3:c.302G>A:p.(Trp101*) - DYM_000026 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0792 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
+/. - c.302G>A r.(?) p.(Trp101*) Both (homozygous) - likely pathogenic (recessive) g.46905056C>T g.49378686C>T NM_017653.3:c.302G>A:p.(Trp101*) - DYM_000026 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0793 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
-?/. - c.346G>T r.(?) p.(Val116Leu) Unknown - likely benign g.46905012C>A g.49378642C>A DYM(NM_017653.3):c.346G>T (p.(Val116Leu)), DYM(NM_017653.6):c.346G>T (p.V116L) - DYM_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346G>T r.(?) p.(Val116Leu) Unknown - likely benign g.46905012C>A - DYM(NM_017653.3):c.346G>T (p.(Val116Leu)), DYM(NM_017653.6):c.346G>T (p.V116L) - DYM_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395A>G r.(?) p.(Tyr132Cys) Unknown - likely benign g.46904963T>C g.49378593T>C DYM(NM_017653.4):c.395A>G (p.Y132C) - DYM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.422G>A r.(?) p.(Ser141Asn) Unknown - VUS g.46889603C>T - DYM(NM_001353214.1):c.422G>A (p.S141N) - DYM_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.474del r.(?) p.(Ile159SerfsTer7) Both (homozygous) ACMG pathogenic (recessive) g.46889551del g.49363181del - - DYM_000032 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M143 PubMed: Hu 2019 family, 2 affected individuals - - Iran Persia - - - - 2 Johan den Dunnen
-?/. - c.500T>A r.(?) p.(Ile167Asn) Unknown - likely benign g.46860218A>T g.49333848A>T DYM(NM_017653.3):c.500T>A (p.(Ile167Asn)) - DYM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.535A>G r.(?) p.(Met179Val) Unknown - VUS g.46860183T>C g.49333813T>C DYM(NM_017653.3):c.535A>G (p.(Met179Val)) - DYM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.551C>T r.(?) p.(Ser184Phe) Unknown - VUS g.46860167G>A g.49333797G>A - - DYM_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.610C>T r.(?) p.(Arg204Ter) Unknown - likely pathogenic g.46860108G>A g.49333738G>A DYM(NM_017653.4):c.610C>T (p.R204*) - DYM_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.610C>T r.(?) p.(Arg204*) Both (homozygous) - pathogenic (recessive) g.46860108G>A g.49333738G>A NM_017653.3:c.610C>T:p.(Arg204*) - DYM_000010 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG0451 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.610C>T r.(?) p.(Arg204*) Both (homozygous) - pathogenic (recessive) g.46860108G>A g.49333738G>A NM_017653.3:c.610C>T:p.(Arg204*) - DYM_000010 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG0720, 13DG0721 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - 2 LOVD
-?/. - c.620+4T>G r.spl? p.? Unknown - likely benign g.46860094A>C g.49333724A>C DYM(NM_001353214.1):c.620+4T>G - DYM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.845A>C r.(?) p.(Asn282Thr) Unknown - VUS g.46812905T>G - DYM(NM_001353214.3):c.845A>C (p.(Asn282Thr)) - DYM_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849G>A r.(?) p.(=) Unknown - likely benign g.46812901C>T - DYM(NM_001353214.3):c.849G>A (p.(Gln283=)) - DYM_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.869T>C r.(?) p.(Val290Ala) Unknown - VUS g.46812881A>G - DYM(NM_001353214.3):c.869T>C (p.(Val290Ala)) - DYM_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.946+1G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.46812803C>T g.49286433C>T NM_017653.3:c.946+1G>A - DYM_000025 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG0636, 13DG0636 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - 2 LOVD
?/. - c.980C>A r.(?) p.(Ala327Asp) Unknown - VUS g.46808512G>T - DYM(NM_001353214.3):c.980C>A (p.(Ala327Asp)) - DYM_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1072C>T r.(?) p.(Gln358Ter) Both (homozygous) ACMG pathogenic (recessive) g.46808420G>A g.49282050G>A - - DYM_000031 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8600158 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
?/. - c.1196T>C r.(?) p.(Ile399Thr) Unknown - VUS g.46798603A>G - DYM(NM_001353214.3):c.1196T>C (p.(Ile399Thr)) - DYM_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1205T>A r.(?) p.(Leu402*) Unknown - pathogenic g.46798594A>T g.49272224A>T g.189124T>A - DYM_000034 - - - - Germline yes - - - - DNA PCR - - DMC - - - - yes (Pakistan) - - - - - 1 Asmat Ullah
+/. - c.1282C>T r.(?) p.(Arg428*) Both (homozygous) - likely pathogenic (recessive) g.46784833G>A g.49258463G>A NM_017653.3:c.1282C>T:p.(Arg428*) - DYM_000024 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG2222 PubMed: Maddirevula 2018 isolated case M - - Arab - - - - 1 LOVD
+/. - c.1365+3_1365+10del r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.46784740_46784747del g.49258370_49258377del NM_017653.3:c.1365+3delAAGTATTC - DYM_000023 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG0723, 13DG0724 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - 2 LOVD
+/. - c.1447C>T r.(?) p.(Gln483*) Unknown - pathogenic g.46783393G>A - - - DYM_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1461-45908G>A r.(=) p.(=) Unknown - VUS g.46736065C>T - DYM(NM_001353214.3):c.1481G>A (p.(Arg494Gln)) - DYM_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1552C>T r.(?) p.(=) Unknown - likely benign g.46690066G>A - DYM(NM_001353214.3):c.1717C>T (p.(Leu573=)) - DYM_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1703G>A r.(?) p.(Arg568Gln) Unknown - VUS g.46645157C>T g.49118787C>T DYM(NM_001353214.1):c.1868G>A (p.R623Q), DYM(NM_001353214.3):c.1868G>A (p.(Arg568Gln)) - DYM_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1703G>A r.(?) p.(Arg568Gln) Unknown - VUS g.46645157C>T - DYM(NM_001353214.1):c.1868G>A (p.R623Q), DYM(NM_001353214.3):c.1868G>A (p.(Arg568Gln)) - DYM_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1745T>G r.(?) p.(Leu582Arg) Unknown - VUS g.46645115A>C - DYM(NM_017653.3):c.1745T>G (p.(Leu582Arg)) - DYM_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1749G>C r.(?) p.(Val583=) Unknown - benign g.46623883C>G - DYM(NM_017653.3):c.1749G>C (p.(Val583=)) - DYM_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1766C>G r.(?) p.(Ser589Ter) Unknown - pathogenic g.46623866G>C g.49097496G>C DYM(NM_017653.5):c.1766C>G (p.S589*) - DYM_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1778A>G r.(?) p.(Gln593Arg) Unknown - likely benign g.46623854T>C - DYM(NM_001353214.1):c.1943A>G (p.Q648R), DYM(NM_017653.3):c.1778A>G (p.(Gln593Arg)) - DYM_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1778A>G r.(?) p.(Gln593Arg) Unknown - VUS g.46623854T>C - DYM(NM_001353214.1):c.1943A>G (p.Q648R), DYM(NM_017653.3):c.1778A>G (p.(Gln593Arg)) - DYM_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1838C>T r.(?) p.(Ala613Val) Unknown - VUS g.46623794G>A - DYM(NM_001353214.3):c.2003C>T (p.(Ala668Val)) - DYM_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1852A>G r.(?) p.(Arg618Gly) Unknown - VUS g.46623780T>C - DYM(NM_001353214.3):c.2017A>G (p.(Arg618Gly)) - DYM_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1860+1G>A r.spl? p.? Parent #1 - likely pathogenic g.46623771C>T g.49097401C>T - - DYM_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205511 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.1860+1G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.46623771C>T g.49097401C>T NM_017653.3:c.1860+1G>A - DYM_000016 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG2185, 13DG2186, 13DG2187 PubMed: Maddirevula 2018 family, 3 affected (3F) F yes - Arab - - - - 3 LOVD
-?/. - c.1860+4128G>A r.(=) p.(=) Unknown - likely benign g.46619644C>T - DYM(NM_001374430.1):c.2063G>A (p.(Cys688Tyr)) - DYM_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1860+4177G>C r.(=) p.(=) Unknown - VUS g.46619595C>G - DYM(NM_001374430.1):c.2112G>C (p.(Leu704Phe)) - DYM_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1876del r.(?) p.(Lys626Asnfs*94) Both (homozygous) - pathogenic (recessive) g.46570559del g.49044189del NM_017653.3:c.1878delA:p.(Lys626Asnfs*94) - DYM_000021 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0789 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
+/. - c.1876del r.(?) p.(Lys626Asnfs*94) Both (homozygous) - pathogenic (recessive) g.46570559del g.49044189del NM_017653.3:c.1878delA:p.(Lys626Asnfs*94) - DYM_000021 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0790 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/. - c.1876del r.(?) p.(Lys626Asnfs*94) Both (homozygous) - pathogenic (recessive) g.46570559del g.49044189del NM_017653.3:c.1878delA:p.(Lys626Asnfs*94) - DYM_000021 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0794 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/. 17 c.1878del r.(?) p.(Lys626Asnfs*94) Both (homozygous) - pathogenic (recessive) g.46570559del g.49044189del - - DYM_000028 ACMG PVS1, PM2, PP5 PubMed: Silveira 2021, Journal: Silveira 2021 - - Germline - - - - - DNA SEQ-NG-I blood - DMC Pat56 PubMed: Silveira 2021, Journal: Silveira 2021 - M yes Brazil - - - - - 1 Maria Dora Jazmin Lacarrubba-Flores
-?/. - c.1902G>T r.(?) p.(Gln634His) Unknown - likely benign g.46570533C>A g.49044163C>A DYM(NM_017653.3):c.1902G>T (p.(Gln634His)) - DYM_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1912dup r.(?) p.(Ile640Tyrfs*68) Parent #2 - likely pathogenic (recessive) g.46570523dup g.49044153dup NM_017653.3:c.1917dup:p.(Ile640Ty - DYM_000020 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2350 PubMed: Maddirevula 2018 isolated case M no - - - - - - 1 LOVD
+/. - c.1920del r.(?) p.(Tyr642Metfs*78) Both (homozygous) - likely pathogenic (recessive) g.46570515del g.49044145del NM_017653.3:c.1923delC:p.(Tyr642Metfs*78) - DYM_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2198, 12DG2199 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M no - - - - - - 2 LOVD
?/. - c.1987C>G r.(?) p.(Leu663Val) Unknown - VUS g.46570448G>C - DYM(NM_017653.3):c.1987C>G (p.(Leu663Val)) - DYM_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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