Full data view for gene MTRR

Information The variants shown are described using the NM_002454.2 transcript reference sequence.

111 entries on 2 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.-6367C>T r.(?) p.(=) Unknown - likely benign g.7862987C>T - FASTKD3(NM_024091.4):c.1648G>A (p.(Ala550Thr)) - C5orf49_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2532C>G r.(?) p.(=) Unknown - likely benign g.7866822C>G g.7866709C>G FASTKD3(NM_024091.3):c.1375G>C (p.(Glu459Gln)) - C5orf49_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2448T>G r.(?) p.(=) Unknown - VUS g.7866906T>G g.7866793T>G FASTKD3(NM_024091.3):c.1291A>C (p.(Lys431Gln)) - FASTKD3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2386G>C r.(?) p.(=) Unknown - VUS g.7866968G>C - FASTKD3(NM_024091.4):c.1229C>G (p.(Ala410Gly)) - C5orf49_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1945A>C r.(?) p.(=) Unknown - VUS g.7867409A>C g.7867296A>C FASTKD3(NM_024091.3):c.788T>G (p.(Leu263Trp)) - C5orf49_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1874_-1872del r.(?) p.(=) Unknown - likely benign g.7867480_7867482del g.7867367_7867369del FASTKD3(NM_024091.3):c.717_719del (p.(Ile240del)) - C5orf49_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1696G>A r.(?) p.(=) Unknown - VUS g.7867658G>A g.7867545G>A FASTKD3(NM_024091.3):c.539C>T (p.(Thr180Ile)) - C5orf49_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1435T>C r.(?) p.(=) Unknown - VUS g.7867919T>C g.7867806T>C FASTKD3(NM_024091.3):c.278A>G (p.(Asn93Ser)) - FASTKD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1311G>C r.(?) p.(=) Unknown - VUS g.7868043G>C g.7867930G>C FASTKD3(NM_024091.3):c.154C>G (p.(Pro52Ala)) - FASTKD3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1022_-1018del r.(?) p.(=) Unknown - likely benign g.7868332_7868336del g.7868219_7868223del FASTKD3(NM_024091.3):c.-113-9_-113-5del (p.(=)) - C5orf49_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1022_-1018dup r.(?) p.(=) Unknown - likely benign g.7868332_7868336dup g.7868219_7868223dup FASTKD3(NM_024091.3):c.-113-8_-113-7insTTTTT (p.(=)) - C5orf49_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1021_-1018del r.(?) p.(=) Unknown - likely benign g.7868333_7868336del g.7868220_7868223del FASTKD3(NM_024091.3):c.-113-8_-113-5del (p.(=)) - C5orf49_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1021_-1018dup r.(?) p.(=) Unknown - likely benign g.7868333_7868336dup g.7868220_7868223dup FASTKD3(NM_024091.3):c.-113-5_-113-4insTTTT (p.(=)) - C5orf49_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1020_-1018del r.(?) p.(=) Unknown - likely benign g.7868334_7868336del g.7868221_7868223del FASTKD3(NM_024091.3):c.-113-7_-113-5del (p.(=)) - C5orf49_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1018dup r.(?) p.(=) Unknown - likely benign g.7868336dup g.7868223dup FASTKD3(NM_024091.3):c.-113-8dup (p.(=)) - C5orf49_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-119T>C r.(?) p.(=) Unknown - benign g.7869235T>C g.7869122T>C MTRR(NM_002454.3):c.-119T>C - MTRR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7A>T r.7a>u p.Arg3Trp Both (homozygous) - pathogenic (recessive) g.7870914A>T g.7870801A>T - - MTRR_000040 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat1 PubMed: Zavadakova 2005 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.17_22del r.(?) p.(Leu6_Leu7del) Parent #2 - pathogenic (recessive) g.7870924_7870929del g.7870811_7870816del 16del6 - MTRR_000035 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 1401/PatBSS PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - - - - - 1 Johan den Dunnen
-/. - c.66A>G r.(?) p.(Ile22Met) Unknown - benign g.7870973A>G g.7870860A>G MTRR(NM_002454.3):c.66A>G (p.I22M) - MTRR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.66A>G r.(?) p.(Ile22Met) Unknown - benign g.7870973A>G g.7870860A>G MTRR(NM_002454.3):c.66A>G (p.I22M) - MTRR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160G>A r.(?) p.(Val54Ile) Unknown - VUS g.7873516G>A g.7873403G>A MTRR(NM_002454.3):c.160G>A (p.V54I) - MTRR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.165_167del r.165_167del p.Val57del Parent #1 - pathogenic (recessive) g.7873521_7873523del g.7873408_7873410del V54del (160delGTT) - MTRR_000037 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 1384/PatSM PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - 5y - - - 1 Johan den Dunnen
+/. - c.166G>A r.166g>a p.Val56Met Parent #1 - pathogenic (recessive) g.7873522G>A g.7873409G>A - - MTRR_000030 - PubMed: Wilson 1999 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? 788 PubMed: Leclerc 1998, PubMed: Wilson 1999 2-generation family, 2 affected sibs, unaffected parents - - Canada - - - - - 2 Johan den Dunnen
+/. - c.166G>A r.166g>a p.Val56Met Parent #1 - pathogenic (recessive) g.7873522G>A g.7873409G>A - - MTRR_000030 - PubMed: Wilson 1999 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? 1146 PubMed: Leclerc 1998, PubMed: Wilson 1999 younger brother M - Canada - - - - - 1 Johan den Dunnen
-?/. - c.177C>G r.(?) p.(Thr59=) Unknown - likely benign g.7873533C>G g.7873420C>G MTRR(NM_002454.3):c.177C>G (p.T59=) - MTRR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177C>G r.(?) p.(Thr59=) Unknown - likely benign g.7873533C>G - MTRR(NM_002454.3):c.177C>G (p.T59=) - MTRR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208C>T r.(?) p.(Arg70Cys) Unknown - likely benign g.7873564C>T - MTRR(NM_024010.3):c.208C>T (p.R70C) - MTRR_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.210C>G r.(?) p.(Arg70=) Unknown - benign g.7873566C>G g.7873453C>G MTRR(NM_002454.2):c.210C>G (p.R70=), MTRR(NM_002454.3):c.210C>G (p.R70=) - MTRR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.210C>G r.(?) p.(Arg70=) Unknown - likely benign g.7873566C>G g.7873453C>G MTRR(NM_002454.2):c.210C>G (p.R70=), MTRR(NM_002454.3):c.210C>G (p.R70=) - MTRR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275G>A r.(?) p.(Gly92Glu) Unknown - VUS g.7873631G>A - MTRR(NM_002454.3):c.275G>A (p.(Gly92Glu)) - C5orf49_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.288C>T r.(?) p.(Leu96=) Unknown - benign g.7875375C>T g.7875262C>T MTRR(NM_002454.3):c.288C>T (p.L96=) - MTRR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288C>T r.(?) p.(Leu96=) Unknown - likely benign g.7875375C>T - MTRR(NM_002454.3):c.288C>T (p.L96=) - MTRR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.334G>A r.(?) p.(Asp112Asn) Unknown - likely pathogenic g.7875421G>A - MTRR(NM_001364440.2):c.334G>A (p.D112N) - MTRR_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.340C>T r.340c>u p.(Arg114Ter) Parent #1 - pathogenic (recessive) g.7875427C>T g.7875314C>T - - MTRR_000039 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 2317 PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - - - - - 1 Johan den Dunnen
+/. - c.385G>A r.385g>a p.Ala129Thr Parent #2 - pathogenic (recessive) g.7875472G>A g.7875359G>A - - MTRR_000032 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 1384/PatSM PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - 5y - - - 1 Johan den Dunnen
?/. - c.446C>T r.(?) p.(Ala149Val) Parent #1 - VUS g.7878101C>T g.7877988C>T - - MTRR_000028 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142714881 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.505G>A r.(?) p.(Val169Met) Unknown - likely benign g.7878160G>A g.7878047G>A MTRR(NM_002454.2):c.505G>A (p.V169M) - MTRR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.524C>T r.(?) p.(Ser175Leu) Unknown - benign g.7878179C>T g.7878066C>T MTRR(NM_002454.3):c.524C>T (p.S175L) - MTRR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.524C>T r.(?) p.(Ser175Leu) Unknown - benign g.7878179C>T g.7878066C>T MTRR(NM_002454.3):c.524C>T (p.S175L) - MTRR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.537T>C r.(?) p.(Leu179=) Unknown - benign g.7878192T>C g.7878079T>C MTRR(NM_002454.3):c.537T>C (p.L179=) - MTRR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.692C>G r.(?) p.(Ser231Trp) Unknown - VUS g.7878347C>G - MTRR(NM_002454.3):c.692C>G (p.(Ser231Trp)) - C5orf49_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744A>G r.(?) p.(Glu248=) Unknown - likely benign g.7878399A>G - MTRR(NM_002454.3):c.744A>G (p.E248=) - MTRR_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769T>A r.(?) p.(Ser257Thr) Unknown - benign g.7878424T>A g.7878311T>A MTRR(NM_002454.3):c.769T>A (p.S257T) - MTRR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.781-2A>T r.spl? p.? Unknown - pathogenic g.7883266A>T - MTRR(NM_001364440.1):c.781-2A>T - MTRR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.869T>C r.(?) p.(Ile290Thr) Unknown - VUS g.7883356T>C g.7883243T>C MTRR(NM_002454.2):c.869T>C (p.I290T) - MTRR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.903+469T>C r.(=) p.(=) Unknown - pathogenic g.7883859T>C - MTRR(NM_002454.3):c.903+469T>C - MTRR_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.903+469T>C r.903_904ins[903+447_903+468;c;903+470_903+586] p.Asn302GlyfsTer61 Unknown - NA g.7883859T>C g.7883746T>C - - MTRR_000069 expression cloning beta globin mini-gene splicing construct; variant suggested to create a new exonic splicing enhancer (ESE) PubMed: Homolova 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.903+469T>C r.903_904ins[903+447_903+468;c;903+470_903+586] p.Asn302GlyfsTer61 Parent #2 - pathogenic (recessive) g.7883859T>C g.7883746T>C - - MTRR_000069 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 1296/PatNJ PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - - - - - 1 Johan den Dunnen
+/. - c.903+469T>C r.903_904ins[903+447_903+468;c;903+470_903+586] p.Asn302GlyfsTer61 Parent #2 - pathogenic (recessive) g.7883859T>C g.7883746T>C - - MTRR_000069 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 2317 PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - - - - - 1 Johan den Dunnen
+/. - c.903+469T>C r.903_904ins[903+447_903+468;c;903+470_903+586] p.Asn302GlyfsTer61 Both (homozygous) - pathogenic (recessive) g.7883859T>C g.7883746T>C - - MTRR_000069 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat2 PubMed: Zavadakova 2005 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.903+469T>C r.903_904ins[903+447_903+468;c;903+470_903+586] p.Asn302GlyfsTer61 Both (homozygous) - pathogenic (recessive) g.7883859T>C g.7883746T>C - - MTRR_000069 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat3 PubMed: Zavadakova 2005 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.903+469T>C r.903_904ins[903+447_903+468;c;903+470_903+586] p.Asn302GlyfsTer61 Paternal (confirmed) - pathogenic (recessive) g.7883859T>C g.7883746T>C - - MTRR_000069 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat8 PubMed: Zavadakova 2005 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.903+469T>C r.903_904ins[903+447_903+468;c;903+470_903+586] p.Asn302GlyfsTer61 Paternal (confirmed) - pathogenic (recessive) g.7883859T>C g.7883746T>C - - MTRR_000069 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat9 PubMed: Zavadakova 2005 - - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.904-21_904-20dup r.(=) p.(=) Unknown - likely benign g.7885793_7885794dup g.7885680_7885681dup MTRR(NM_002454.3):c.904-21_904-20dupTT - MTRR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.904-20dup r.(=) p.(=) Unknown - benign g.7885794dup g.7885681dup MTRR(NM_002454.3):c.904-20dupT - MTRR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904-20_904-19insTC r.(=) p.(=) Unknown - likely benign g.7885794_7885795insTC g.7885681_7885682insTC MTRR(NM_002454.3):c.904-20_904-19insTC - MTRR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904-19dup r.(=) p.(=) Unknown - likely benign g.7885795dup g.7885682dup MTRR(NM_002454.3):c.904-19dupC - MTRR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904-6C>T r.(=) p.(=) Unknown - likely benign g.7885808C>T g.7885695C>T MTRR(NM_002454.2):c.904-6C>T (p.(=)) - MTRR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904-4C>T r.spl? p.? Unknown - likely benign g.7885810C>T g.7885697C>T MTRR(NM_002454.2):c.904-4C>T (p.?) - MTRR_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.997C>G r.(?) p.(Leu333Val) Unknown - benign g.7885907C>G g.7885794C>G MTRR(NM_002454.3):c.997C>G (p.L333V) - MTRR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.997C>G r.(?) p.(Leu333Val) Unknown - benign g.7885907C>G g.7885794C>G MTRR(NM_002454.3):c.997C>G (p.L333V) - MTRR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.997C>G r.997c>g p.Leu333Val Parent #1 - pathogenic (recessive) g.7885907C>G g.7885794C>G - - MTRR_000007 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 1401/PatBSS PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - - - - - 1 Johan den Dunnen
-/. - c.1049A>G r.(?) p.(Lys350Arg) Unknown - benign g.7885959A>G g.7885846A>G MTRR(NM_002454.3):c.1049A>G (p.K350R) - MTRR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1091_1093del r.(?) p.(Cys364del) Unknown - likely benign g.7886761_7886763del - MTRR(NM_002454.3):c.1091_1093delGTT (p.C364del) - MTRR_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1146+3A>T r.spl? p.? Unknown - VUS g.7886819A>T g.7886706A>T MTRR(NM_002454.2):c.1146+3A>T - MTRR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1147-14G>A r.(=) p.(=) Unknown - likely benign g.7889194G>A - MTRR(NM_002454.3):c.1147-14G>A - MTRR_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1155G>A r.(?) p.(Leu385=) Unknown - benign g.7889216G>A g.7889103G>A MTRR(NM_002454.3):c.1155G>A (p.L385=) - MTRR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1213T>C r.1213u>c p.Cys405Arg Parent #1 - pathogenic (recessive) g.7889274T>C g.7889161T>C - - MTRR_000036 no variant 2nd chromosome PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 1575 PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - - - - - 1 Johan den Dunnen
-/. - c.1243C>T r.(?) p.(Arg415Cys) Unknown - benign g.7889304C>T g.7889191C>T MTRR(NM_002454.3):c.1243C>T (p.R415C) - MTRR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1326C>T r.(?) p.(Leu442=) Unknown - likely benign g.7889387C>T g.7889274C>T MTRR(NM_002454.3):c.1326C>T (p.L442=) - MTRR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1326C>T r.(?) p.(Leu442=) Unknown - likely benign g.7889387C>T - MTRR(NM_002454.3):c.1326C>T (p.L442=) - MTRR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1349C>G r.(?) p.(Pro450Arg) Unknown - benign g.7891506C>G g.7891393C>G MTRR(NM_002454.3):c.1349C>G (p.P450R) - MTRR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1361C>T c,1361c>u p.Ser454Leu Both (homozygous) - pathogenic (recessive) g.7891518C>T g.7891405C>T - - MTRR_000041 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat4 PubMed: Zavadakova 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1361C>T c,1361c>u p.Ser454Leu Both (homozygous) - pathogenic (recessive) g.7891518C>T g.7891405C>T - - MTRR_000041 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat5 PubMed: Zavadakova 2005 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1361C>T c,1361c>u p.Ser454Leu Maternal (confirmed) - pathogenic (recessive) g.7891518C>T g.7891405C>T - - MTRR_000041 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat6 PubMed: Zavadakova 2005 - - - Germany;Portugal - - - - - 1 Johan den Dunnen
-/. - c.1370+19G>A r.(=) p.(=) Unknown - benign g.7891546G>A g.7891433G>A MTRR(NM_002454.3):c.1370+19G>A - MTRR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1459G>A r.1459g>a p.Gly487Arg Parent #1 - pathogenic (recessive) g.7892928G>A g.7892815G>A - - MTRR_000038 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 2366 PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1459G>A c.1459g>a p.Gly487Arg Paternal (confirmed) - pathogenic (recessive) g.7892928G>A g.7892815G>A - - MTRR_000038 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat7 PubMed: Zavadakova 2005 - - - Czech Republic - - - - - 1 Johan den Dunnen
-/. - c.1464A>G r.(?) p.(Val488=) Unknown - benign g.7892933A>G g.7892820A>G MTRR(NM_002454.3):c.1464A>G (p.V488=) - MTRR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1468A>G r.(?) p.(Thr490Ala) Unknown - likely benign g.7892937A>G g.7892824A>G MTRR(NM_002454.2):c.1468A>G (p.(Thr490Ala)), MTRR(NM_002454.3):c.1468A>G (p.T490A) - MTRR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1468A>G r.(?) p.(Thr490Ala) Unknown - likely benign g.7892937A>G g.7892824A>G MTRR(NM_002454.2):c.1468A>G (p.(Thr490Ala)), MTRR(NM_002454.3):c.1468A>G (p.T490A) - MTRR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1468A>G r.(?) p.(Thr490Ala) Parent #1 - benign g.7892937A>G g.7892824A>G - - MTRR_000027 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41283145 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-/. - c.1536C>T r.(?) p.(Ser512=) Unknown - benign g.7893005C>T g.7892892C>T MTRR(NM_002454.3):c.1536C>T (p.S512=) - MTRR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1544C>T r.(?) p.(Ala515Val) Unknown - likely benign g.7893013C>T g.7892900C>T MTRR(NM_002454.2):c.1544C>T (p.(Ala515Val)) - MTRR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1554_1557+3del r.1462_1557del p.Val488_Lys519del Parent #1 - pathogenic (recessive) g.7893023_7893029del g.7892910_7892916del 1554del7 - MTRR_000034 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 1296/PatNJ PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1554_1557+3del r.1462_1557del p.Val488_Lys519del Maternal (confirmed) - pathogenic (recessive) g.7893023_7893029del g.7892910_7892916del - - MTRR_000034 1557-4_1557+3del7 PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat8 PubMed: Zavadakova 2005 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.1573C>T c.1573c>u p.Arg525Ter Paternal (confirmed) - pathogenic (recessive) g.7895862C>T g.7895749C>T - - MTRR_000042 - PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat6 PubMed: Zavadakova 2005 - - - Germany;Portugal - - - - - 1 Johan den Dunnen
?/. - c.1574G>A r.(?) p.(Arg525Gln) Unknown - VUS g.7895863G>A g.7895750G>A MTRR(NM_002454.2):c.1574G>A (p.(Arg525Gln)) - MTRR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1622_1623dup c.1622_1623dup p.Met542Ter Maternal (confirmed) - pathogenic (recessive) g.7895911_7895912dup g.7895798_7895799dup - - MTRR_000043 1622_1623dupTA PubMed: Zavadakova 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat7 PubMed: Zavadakova 2005 - - - Czech Republic - - - - - 1 Johan den Dunnen
-/. - c.1653G>A r.(?) p.(Pro551=) Unknown - benign g.7895942G>A g.7895829G>A MTRR(NM_002454.3):c.1653G>A (p.P551=) - MTRR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1653G>A r.(=) p.(Pro551=) Unknown - likely benign g.7895942G>A g.7895829G>A - - MTRR_000011 - PubMed: Wilson 1999 - - Germline - 1/100 control chromosomes - - - DNA SEQ - - Healthy/Control control PubMed: Wilson 1999 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1660G>A r.1660g>a p.Gly554Arg Parent #2 - pathogenic (recessive) g.7895949G>A g.7895836G>A - - MTRR_000033 - PubMed: Wilson 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 2366 PubMed: Wilson 1999 2-generation family, 1 affected, unaffected parents - - Canada - - - - - 1 Johan den Dunnen
-/. - c.1676+20A>G r.(=) p.(=) Unknown - benign g.7895985A>G g.7895872A>G MTRR(NM_002454.3):c.1676+20A>G - MTRR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1677-9del r.(=) p.(=) Unknown - benign g.7896968del g.7896855del MTRR(NM_002454.3):c.1677-9delT - MTRR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1677-9dup r.(=) p.(=) Unknown - benign g.7896968dup g.7896855dup MTRR(NM_002454.3):c.1677-9dupT - MTRR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677-8C>T r.(=) p.(=) Unknown - likely benign g.7896969C>T g.7896856C>T MTRR(NM_002454.2):c.1677-8C>T (p.(=)) - MTRR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677-8_1677-5del r.spl? p.? Unknown - likely benign g.7896969_7896972del g.7896856_7896859del MTRR(NM_002454.2):c.1677-8_1677-5del (p.?) - MTRR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677-3_1677-2insTTTT r.spl? p.? Unknown - likely benign g.7896974_7896975insTTTT g.7896861_7896862insTTTT MTRR(NM_002454.2):c.1677-5_1677-4insTTTT (p.?) - MTRR_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1678_1681del r.1678_1681del p.Glu560Asnfs*42 Parent #2 - pathogenic (recessive) g.7896978_7896981del g.7896865_7896868del 1675del4 - MTRR_000031 - PubMed: Leclerc 1998 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? 1146 PubMed: Leclerc 1998, PubMed: Wilson 1999 younger brother M - Canada - - - - - 1 Johan den Dunnen
+/. - c.1678_1681del r.1678_1681del p.Glu560Asnfs*42 Parent #2 - pathogenic (recessive) g.7896978_7896981del g.7896865_7896868del 1675del4 - MTRR_000031 - PubMed: Leclerc 1998 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? 788 PubMed: Leclerc 1998, PubMed: Wilson 1999 2-generation family, 2 affected sibs, unaffected parents - - Canada - - - - - 2 Johan den Dunnen
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