Full data view for gene TYMP

Information The variants shown are described using the NM_001953.4 transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.*36C>T r.(?) p.(=) Parent #1 - VUS g.50964163G>A g.50525734G>A - - TYMP_000003 - - - - Germline - - - - - DNA SEQ - - MEOAL;MMDS8 - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.-698464_*3781255del r.0? p.0? Unknown - pathogenic g.47182944_51666786del - - - ALG12_000022 mosaicism, hemizygous in 0.56 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-10-36G>T r.spl p.(=) Unknown - likely benign g.50968184C>A g.50529755C>A TYMP(NM_001113755.2):c.-22-24G>T (p.(=)) - TYMP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.-10-1G>C r.-11_417del p.0? Maternal (confirmed) - pathogenic (recessive) g.50968149C>G g.50529720C>G 675G>C - TYMP_000071 sequence Fig.4 differs from reference PubMed: Ginsberg 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTDPS1 patient PubMed: Ginsberg 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents/ F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1i c.-10-1G>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.50968149C>G g.50529720C>G 675G>C - TYMP_000071 - PubMed: Taanman 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTDPS1 patient PubMed: Taanman 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2 c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? g.? 2bp del - LARGE_000000 - PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat20 PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - Switzerland - - - - - 1 Johan den Dunnen
+?/. - c.11del r.(?) p.(Leu4Ter) Unknown - likely pathogenic g.50968129del g.50529700del TYMP(NM_001257988.1):c.11del (p.(Leu4Ter)) - TYMP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30G>A r.(?) p.(Gly10=) Unknown - likely benign g.50968109C>T g.50529680C>T TYMP(NM_001113755.2):c.30G>A (p.(Gly10=)) - TYMP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47G>C r.(?) p.(Gly16Ala) Unknown - VUS g.50968092C>G g.50529663C>G TYMP(NM_001113755.2):c.47G>C (p.(Gly16Ala)) - TYMP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61G>C r.(?) p.(Glu21Gln) Unknown - likely benign g.50968078C>G g.50529649C>G TYMP(NM_001113756.2):c.61G>C (p.E21Q) - TYMP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.130C>T r.(?) p.(Arg44Ter) Both (homozygous) - pathogenic (recessive) g.50968009G>A g.50529580G>A - - chr22_003325 - PubMed: Mojtabavi 2021 - - Germline - - - - - DNA SEQ - - MTDPS1 FamPat6 PubMed: Mojtabavi 2021 3-generation family, 1 affected, unaffected parents M yes Iran - - - - - 1 Johan den Dunnen
+/. 2 c.131G>A r.(?) p.(Arg44Gln) Both (homozygous) - pathogenic (recessive) g.50968008C>T g.50529579C>T G435A - TYMP_000066 - PubMed: Gamez 2002 - - Germline yes - - - - DNA SEQ - - MTDPS1 FamPatIII2/4 PubMed: Gamez 2002 3-generation family, 2 affected sister, unaffected heterozygous carrier parents/relatives F - Spain - - - - - 1 Johan den Dunnen
-?/. - c.194G>A r.(?) p.(Ser65Asn) Unknown - likely benign g.50967945C>T g.50529516C>T TYMP(NM_001113755.2):c.194G>A (p.(Ser65Asn)) - TYMP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.204C>T r.(?) p.(Gly68=) Unknown - benign g.50967935G>A g.50529506G>A TYMP(NM_001113755.2):c.204C>T (p.(Gly68=)) - TYMP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.214+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.50967924C>A g.50529495C>A - - TYMP_000017 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - MTDPS1 - - - F ? United States - - - - - 1 Kimberly Kripps
-?/. - c.214+13G>A r.(=) p.(=) Unknown - likely benign g.50967912C>T g.50529483C>T TYMP(NM_001113755.2):c.214+13G>A (p.(=)) - TYMP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214+17G>A r.(=) p.(=) Unknown - VUS g.50967908C>T g.50529479C>T TYMP(NM_001113755.2):c.214+17G>A (p.(=)) - TYMP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.215-1G>C r.spl p.? Parent #1 - pathogenic g.50967768C>G g.50529339C>G - - TYMP_000001 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.215-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.50967768C>G g.50529339C>G - - TYMP_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - MTDPS1 - - - M ? United States - - - - - 1 Kimberly Kripps
+/. 2i c.215-1G>C r.184_417del p.Asn63_Val140del Both (homozygous) - pathogenic (recessive) g.50967768C>G g.50529339C>G IVS1-1G>C - TYMP_000001 - PubMed: Szigeti 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTDPS1 patient PubMed: Szigeti 2004 2-generation family, 1 affected, unaffected parents M - United States white - - - - 1 Johan den Dunnen
+/. - c.235C>T r.(?) p.(Arg79Ter) Both (homozygous) ACMG pathogenic g.50967747G>A g.50529318G>A - - TYMP_000026 ACMG PM2, PVS1, PP5, PP4 PubMed: Molaei 2025 SCV006075352 - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam101296Pat269 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - 1 Johan den Dunnen
-?/. - c.242G>A r.(?) p.(Arg81Gln) Unknown - likely benign g.50967740C>T g.50529311C>T TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q) - TYMP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242G>A r.(?) p.(Arg81Gln) Unknown - likely benign g.50967740C>T g.50529311C>T TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q) - TYMP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242G>A r.(?) p.(Arg81Gln) Unknown - VUS g.50967740C>T g.50529311C>T - - TYMP_000063 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat43 PubMed: Taylor 2014 - F - United Kingdom (Great Britain) British <01m - - - 1 Johan den Dunnen
-?/. - c.294G>A r.(?) p.(Ser98=) Unknown - likely benign g.50967688C>T g.50529259C>T TYMP(NM_001113756.2):c.294G>A (p.S98=) - TYMP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.342C>G r.(?) p.(Asp114Glu) Both (homozygous) ACMG likely pathogenic g.50967640G>C g.50529211G>C - - TYMP_000025 ACMG PM3_str, PP3, PM2, PM5, PP2, PP5 PubMed: Molaei 2025 SCV006075351 - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam209859Pat731 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - 1 Johan den Dunnen
?/. - c.345G>T r.(?) p.(Lys115Asn) Both (homozygous) - VUS g.50967637C>A g.50529208C>A - - chr22_003324 - PubMed: Mojtabavi 2021 - - Germline - - - - - DNA SEQ - - MTDPS1 FamPat5 PubMed: Mojtabavi 2021 3-generation family, 1 affected, unaffected parents F - Iran - - - - - 1 Johan den Dunnen
+?/. - c.355G>A r.(?) p.(Gly119Arg) Parent #1 - likely pathogenic g.50967627C>T g.50529198C>T - - TYMP_000020 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205559 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.355G>A r.(?) p.(Gly119Arg) Both (homozygous) - likely pathogenic (recessive) g.50967627C>T g.50529198C>T NM_001257988.1 - TYMP_000020 - PubMed: Alhammad 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP - PubMed: Alhammad 2024 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.391C>A r.(?) p.(Pro131Thr) Unknown - likely pathogenic g.50967591G>T g.50529162G>T - - TYMP_000023 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T G1419A (G145R) - chr22_003311 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat3 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Puerto Rico - - - - - 1 Johan den Dunnen
+/. 4 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T G1419A (G145R) - chr22_003311 - PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat5 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Israel jew;Iran - - - - 1 Johan den Dunnen
+/. 4 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T G1419A (G145R) - chr22_003311 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat6 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Puerto Rico - - - - - 1 Johan den Dunnen
+/. 4 c.433G>A r.(?) p.(Gly145Arg) Unknown - pathogenic (recessive) g.50967024C>T g.50528595C>T G1419A (G145R) - chr22_003311 no multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat8 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United States Germany - - - - 1 Johan den Dunnen
?/. - c.437G>A r.(?) p.(Arg146His) Parent #1 - VUS g.50967020C>T g.50528591C>T - - TYMP_000019 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs188802138 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+/. - c.457G>A r.(?) p.(Gly153Ser) Parent #1 - pathogenic g.50967000C>T g.50528571C>T - - TYMP_000002 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 4 c.457G>A r.(?) p.(Gly153Ser) Unknown - pathogenic (recessive) g.50967000C>T g.50528571C>T G1443A (G153S) - TYMP_000002 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat10 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United States Europe - - - - 1 Johan den Dunnen
+/. 4 c.457G>A r.(?) p.(Gly153Ser) Unknown - pathogenic (recessive) g.50967000C>T g.50528571C>T G1443A (G153S) - TYMP_000002 - PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat11 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 4 c.457G>A r.(?) p.(Gly153Ser) Both (homozygous) - pathogenic (recessive) g.50967000C>T g.50528571C>T G1443A (G153S) - TYMP_000002 - PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat12 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.457G>A r.(?) p.(Gly153Ser) Unknown - pathogenic (recessive) g.50967000C>T g.50528571C>T G1443A (G153S) - TYMP_000002 - PubMed: Marti 2005 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat3 PubMed: Marti 2005 2-generation family, 1 affected, unaffected parents M - United States United Kingdom (Great Britain) - - - - 1 Johan den Dunnen
+/. 4i c.478T>C r.(?) p.(Ser160Pro) Both (homozygous) - pathogenic (recessive) g.50966979A>G g.50528550A>G T1464C (S160P) - chr22_003318 - PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat16 PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - Portugal - - - - - 1 Johan den Dunnen
-?/. - c.494A>G r.(?) p.(Asn165Ser) Unknown - likely benign g.50966963T>C g.50528534T>C TYMP(NM_001113756.2):c.494A>G (p.N165S) - TYMP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495T>C r.(?) p.(Asn165=) Unknown - likely benign g.50966962A>G g.50528533A>G TYMP(NM_001953.5):c.495T>C (p.(Asn165=)) - TYMP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.516+2T>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.50966939A>T g.50528510A>T - - TYMP_000016 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - MTDPS1 - - - M no United States Navajo - - - - 1 Kimberly Kripps
+/. 4i c.516+2T>C r.418_516del p.Val140_Gln172del Parent #1 - pathogenic (recessive) g.50966939A>G g.50528510A>G t1504c - chr22_003310 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTDPS1 Pat2 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States Germany - - - - 1 Johan den Dunnen
-?/. - c.516+16G>A r.(=) p.(=) Unknown - likely benign g.50966925C>T g.50528496C>T TYMP(NM_001113755.2):c.516+16G>A (p.(=)) - TYMP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.518T>G r.(?) p.(Met173Arg) Both (homozygous) - pathogenic (recessive) g.50966145A>C g.50527716A>C T2293G (M173G) - chr22_003319 - PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat18 PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - Dominican Republic - - - - - 1 Johan den Dunnen
-?/. - c.519G>A r.(?) p.(Met173Ile) Unknown - likely benign g.50966144C>T g.50527715C>T TYMP(NM_001113756.2):c.519G>A (p.M173I) - TYMP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.542G>A r.(?) p.(Gly181Asp) Unknown - VUS g.50966121C>T g.50527692C>T TYMP(NM_001113755.2):c.542G>A (p.(Gly181Asp)) - TYMP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.554T>A r.(?) p.(Val185Glu) Both (homozygous) ACMG VUS g.50966109A>T g.50527680A>T - - TYMP_000024 ACMG PM2, PP3_mod PubMed: Molaei 2025 SCV006075350 - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam211181Pat760 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - 1 Johan den Dunnen
+/. - c.605G>C r.(?) p.(Arg202Thr) Parent #2 - pathogenic (recessive) g.50966058C>G g.50527629C>G G2381C (R202T) - TYMP_000068 - PubMed: Marti 2005 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat2 PubMed: Marti 2005 2-generation family, 1 affected, unaffected parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.622G>A r.(?) p.(Val208Met) Unknown - pathogenic g.50966041C>T g.50527612C>T TYMP(NM_001113755.2):c.622G>A (p.(Val208Met)) - TYMP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.622G>A r.(?) p.(Val208Met) Unknown - pathogenic g.50966041C>T g.50527612C>T - - TYMP_000035 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.622G>A r.(?) p.(Val208Met) Parent #1 - pathogenic (recessive) g.50966041C>T g.50527612C>T G2398A (V208M) - TYMP_000035 - PubMed: Marti 2005 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat1 PubMed: Marti 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States United Kingdom (Great Britain) - - - - 1 Johan den Dunnen
+/. - c.622G>A r.(?) p.(Val208Met) Parent #1 - pathogenic (recessive) g.50966041C>T g.50527612C>T G2398A (V208M) - TYMP_000035 - PubMed: Marti 2005 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat2 PubMed: Marti 2005 2-generation family, 1 affected, unaffected parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. 6 c.653T>G r.(?) p.(Ile218Ser) Unknown - pathogenic (recessive) g.50965706A>C g.50527277A>C - - TYMP_000015 - - - - De novo - - - - - DNA SEQ-NG Blood WES MTDPS1 - - - F no United States - - - - - 1 Kimberly Kripps
+/. 6 c.665A>G r.(?) p.(Lys222Arg) Parent #1 - pathogenic (recessive) g.50965694T>C g.50527265T>C A2744G (K222S) - chr22_003312 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat4 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Jamaica - - - - - 1 Johan den Dunnen
-?/. - c.676G>A r.(?) p.(Gly226Arg) Unknown - likely benign g.50965683C>T g.50527254C>T TYMP(NM_001113755.2):c.676G>A (p.(Gly226Arg)), TYMP(NM_001113756.2):c.676G>A (p.G226R) - TYMP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.676G>A r.(?) p.(Gly226Arg) Unknown - likely benign g.50965683C>T g.50527254C>T TYMP(NM_001113755.2):c.676G>A (p.(Gly226Arg)), TYMP(NM_001113756.2):c.676G>A (p.G226R) - TYMP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.685G>C r.(?) p.(Ala229Pro) Parent #1 - VUS g.50965674C>G g.50527245C>G - - TYMP_000008 Alamut: probalbly damaging (PSIC: 0,759) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.735G>A r.(?) p.(Gln245=) Unknown - likely benign g.50965624C>T g.50527195C>T TYMP(NM_001113756.2):c.735G>A (p.Q245=) - TYMP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.736G>A r.(?) p.(Glu246Lys) Unknown - VUS g.50965623C>T g.50527194C>T TYMP(NM_001113755.2):c.736G>A (p.(Glu246Lys)) - TYMP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.762G>A r.(?) p.(Thr254=) Unknown - likely benign g.50965597C>T g.50527168C>T TYMP(NM_001113755.2):c.762G>A (p.(Thr254=)) - TYMP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.798_801dup r.(?) p.(Ala268ArgfsTer?) Both (homozygous) - likely pathogenic (recessive) g.50965132_50965135dup g.50526703_50526706dup 801_802insCGCG - chr22_003322 - PubMed: Mojtabavi 2021 - - Germline - - - - - DNA SEQ - - MTDPS1 FamPat3 PubMed: Mojtabavi 2021 3-generation family, 1 affected, unaffected parents F yes Iran - - - - - 1 Johan den Dunnen
-?/. - c.831G>A r.(?) p.(Leu277=) Unknown - likely benign g.50965102C>T g.50526673C>T TYMP(NM_001113755.2):c.831G>A (p.(Leu277=)) - TYMP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.854T>C r.(?) p.(Leu285Pro) Unknown - pathogenic (recessive) g.50965079A>G g.50526650A>G T3359C (L285P) - TYMP_000069 - PubMed: Marti 2005 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat3 PubMed: Marti 2005 2-generation family, 1 affected, unaffected parents M - United States United Kingdom (Great Britain) - - - - 1 Johan den Dunnen
+/. 7i c.865G>A r.(?) p.(Glu289Lys) Parent #1 - pathogenic (recessive) g.50965068C>T g.50526639C>T G3370A (E289K) - chr22_003317 - PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat14 PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United States Europe;white - - - - 1 Johan den Dunnen
+/. 7 c.866A>C r.(?) p.(Glu289Ala) Maternal (confirmed) - pathogenic (recessive) g.50965067T>G g.50526638T>G - - TYMP_000014 - - - - Germline - - - - - DNA SEQ-NG Blood WES MTDPS1 - - - F no United States - - - - - 1 Kimberly Kripps
+/. - c.866A>C r.(?) p.(Glu289Ala) Unknown - pathogenic g.50965067T>G g.50526638T>G TYMP(NM_001113755.2):c.866A>C (p.(Glu289Ala)) - TYMP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.866A>G r.(?) p.(Glu289Gly) Both (homozygous) - pathogenic (recessive) g.50965067T>C g.50526638T>C A3371C (E289A) - chr22_003309 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat1 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. 7 c.866A>G r.(?) p.(Glu289Gly) Parent #1 - pathogenic (recessive) g.50965067T>C g.50526638T>C A3371C (E289A) - chr22_003309 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTDPS1 Pat7 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.866A>G r.(?) p.(Glu289Gly) Parent #2 - pathogenic (recessive) g.50965067T>C g.50526638T>C A3371C (E289A) - chr22_003309 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTDPS1 Pat2 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States Germany - - - - 1 Johan den Dunnen
+/. 7 c.866A>G r.(?) p.(Glu289Gly) Unknown - pathogenic (recessive) g.50965067T>C g.50526638T>C A3371C (E289A) - chr22_003309 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat10 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United States Europe - - - - 1 Johan den Dunnen
+/. 7 c.866A>G r.(?) p.(Glu289Gly) Unknown - pathogenic (recessive) g.50965067T>C g.50526638T>C A3371C (E289A) - chr22_003309 - PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat11 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 7 c.866A>G r.(?) p.(Glu289Gly) Both (homozygous) - pathogenic (recessive) g.50965067T>C g.50526638T>C A3371C (E289A) - chr22_003309 - PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat15 PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.895C>A r.(?) p.(Pro299Thr) Parent #1 - likely pathogenic g.50965038G>T g.50526609G>T - - TYMP_000018 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863224252 Germline - 1/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.928+10dup r.(=) p.(=) Unknown - likely benign g.50964995dup g.50526566dup TYMP(NM_001113755.2):c.928+10dup (p.(=)) - TYMP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929-6_929-3del r.spl? p.? Unknown - likely benign g.50964913_50964916del g.50526484_50526487del TYMP(NM_001113755.2):c.929-6_929-3del (p.?) - TYMP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7i c.929-6_929-3del r.spl p.? Unknown - likely pathogenic (recessive) g.50964913_50964916del g.50526484_50526487del 3527–3530del - TYMP_000009 no multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat8 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United States Germany - - - - 1 Johan den Dunnen
+?/. - c.929-1G>A r.spl p.? Both (homozygous) - likely pathogenic g.50964906C>T g.50526477C>T - - TYMP_000013 - - - - Germline - - - - - DNA SEQ - - - - - - M - - - - - - - 1 Gunnar Schmidt
?/. - c.929G>A r.(?) p.(Gly310Glu) Parent #1 - VUS g.50964905C>T g.50526476C>T - - TYMP_000007 c.929G>A,p.Gly310Glu; Polyphen-2: probably damaging (PSIC:1,920) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.931G>C r.(?) p.(Gly311Arg) Parent #2 - pathogenic (recessive) g.50964903C>G g.50526474C>G G3535C (G311R) - TYMP_000067 - PubMed: Marti 2005 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat1 PubMed: Marti 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States United Kingdom (Great Britain) - - - - 1 Johan den Dunnen
+/. - c.945G>A r.(?) p.(Trp315Ter) Both (homozygous) - pathogenic g.50964889C>T g.50526460C>T - - TYMP_000021 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-/. - c.972C>T r.(?) p.(Ala324=) Unknown - benign g.50964862G>A g.50526433G>A SCO2(NM_001169109.2):c.-201C>T, TYMP(NM_001113756.3):c.972C>T (p.A324=) - TYMP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.972C>T r.(?) p.(Ala324=) Unknown - benign g.50964862G>A g.50526433G>A SCO2(NM_001169109.2):c.-201C>T, TYMP(NM_001113756.3):c.972C>T (p.A324=) - TYMP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.975G>A r.(?) p.(Gln325=) Unknown - likely benign g.50964859C>T g.50526430C>T TYMP(NM_001257988.1):c.975G>A (p.(=)) - TYMP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1013C>A r.(?) p.(Ser338Ter) Both (homozygous) - pathogenic (recessive) g.50964821G>T g.50526392G>T - - chr22_003323 - PubMed: Mojtabavi 2021 - - Germline - - - - - DNA SEQ - - MTDPS1 FamPat4 PubMed: Mojtabavi 2021 3-generation family, 3 affected sisters, unaffected parents F - Iran - - - - - 3 Johan den Dunnen
+/. - c.1048C>T r.(?) p.(Gln350Ter) Parent #1 - pathogenic g.50964786G>A g.50526357G>A - - TYMP_000006 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1074A>G r.(?) p.(Arg358=) Unknown - likely benign g.50964760T>C g.50526331T>C TYMP(NM_001113755.2):c.1074A>G (p.(Arg358=)) - TYMP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1103G>A r.(?) p.(Arg368His) Unknown - VUS g.50964731C>T g.50526302C>T TYMP(NM_001953.5):c.1103G>A (p.(Arg368His)) - TYMP_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1109A>G r.(?) p.(Gln370Arg) Unknown - VUS g.50964725T>C g.50526296T>C TYMP(NM_001113755.2):c.1109A>G (p.(Gln370Arg)) - TYMP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1138_1140del r.(?) p.(Glu380del) Unknown - VUS g.50964699_50964701del g.50526270_50526272del TYMP(NM_001113755.2):c.1138_1140del (p.(Glu380del)) - TYMP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1159G>A r.(?) p.(Gly387Ser) Unknown - VUS g.50964675C>T g.50526246C>T TYMP(NM_001953.5):c.1159G>A (p.G387S) - TYMP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1159+18C>A r.(=) p.(=) Unknown - likely benign g.50964657G>T g.50526228G>T TYMP(NM_001113755.2):c.1159+18C>A (p.(=)) - TYMP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1160-29C>G r.(=) p.(=) Unknown - likely benign g.50964599G>C g.50526170G>C TYMP(NM_001113755.2):c.1160-29C>G (p.(=)) - TYMP_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1160-26G>A r.(=) p.(=) Unknown - likely benign g.50964596C>T g.50526167C>T TYMP(NM_001257988.1):c.1160-26G>A (p.(=)) - TYMP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1160-1G>A r.spl p.? Parent #1 - pathogenic g.50964571C>T g.50526142C>T - - TYMP_000005 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 8i c.1160-1G>A r.1160_1300del p.Thr388_Gly434del Both (homozygous) - pathogenic (recessive) g.50964571C>T g.50526638T>C G3867A (loss 47 aa) - TYMP_000005 - PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat13 PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - Greece - - - - - 1 Johan den Dunnen
+/. 8i c.1160-1G>A r.1160_1300del p.Thr388_Gly434del Both (homozygous) - pathogenic (recessive) g.50964571C>T g.50526638T>C G3867A (loss 47 aa) - TYMP_000005 - PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat17 PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - Italy Sicily - - - - 1 Johan den Dunnen
+/. 8i c.1160-1G>A r.1160_1300del p.Thr388_Gly434del Both (homozygous) - pathogenic (recessive) g.50964571C>T g.50526638T>C G3867A (loss 47 aa) - TYMP_000005 - PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat21 PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - Italy - - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.