Unique variants in the TMEM237 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001044385.2 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-4343C>T r.(?) p.(=) - VUS g.202512466G>A g.201647743G>A MPP4(NM_033066.2):c.1667C>T (p.(Ser556Phe)) - MPP4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.-12G>A r.(?) p.(=) - benign g.202508135C>T g.201643412C>T TMEM237(NM_001044385.2):c.-12G>A - TMEM237_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.43-1G>C r.spl p.? - VUS g.202505648C>G g.201640925C>G - - TMEM237_000035 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
+/+, +/., ?/. 18 2 c.52C>T r.(?) p.(Arg18*), p.(Arg18Ter) - pathogenic, VUS g.202505638G>A g.201640915G>A TMEM237(NM_152388.3):c.28C>T (p.R10*), TMEM237(NM_152388.4):c.28C>T (p.R10*) - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites, 2 more items PubMed: Boycott 2007, PubMed: Huang 2011, PubMed: Huang 2011, PubMed: Kroes 2016 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Lijia Huang, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/+, +/., +?/. 4 3 c.76C>T r.(?) p.(Gln26*) - likely pathogenic, pathogenic g.202504987G>A g.201640264G>A c.76C>T, c.76C>T; p.Q26*, NM_001044385.2:c.76C>T - TMEM237_000004 not in over 210 control chromosomes PubMed: Bachmann-Gagescu 2015, PubMed: Brooks 2018, PubMed: Huang 2011, PubMed: Summers 2017 - - Germline ? - - - - Lijia Huang
?/. 1 - c.97C>T r.(?) p.(Arg33Cys) - VUS g.202503751G>A g.201639028G>A TMEM237(NM_152388.3):c.73C>T (p.R25C) - TMEM237_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.136+8G>A r.(=) p.(=) - benign g.202503704C>T g.201638981C>T TMEM237(NM_152388.3):c.112+8G>A - TMEM237_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.139A>G r.(?) p.(Ser47Gly) - VUS g.202501606T>C g.201636883T>C TMEM237(NM_001044385.2):c.139A>G (p.(Ser47Gly)) - TMEM237_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.194A>G r.(?) p.(Asn65Ser) - likely benign g.202501551T>C - TMEM237(NM_152388.3):c.170A>G (p.N57S) - TMEM237_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.205A>T r.(?) p.(Thr69Ser) - likely benign g.202501540T>A g.201636817T>A TMEM237(NM_152388.3):c.181A>T (p.T61S) - TMEM237_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.275-9T>C r.(=) p.(=) - likely benign g.202498163A>G g.201633440A>G TMEM237(NM_152388.3):c.251-9T>C - TMEM237_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.298A>G r.(?) p.(Lys100Glu) - likely benign g.202498131T>C g.201633408T>C TMEM237(NM_001044385.2):c.298A>G (p.(Lys100Glu)) - TMEM237_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.317C>G r.(?) p.(Ser106Cys) - VUS g.202498112G>C g.201633389G>C TMEM237(NM_152388.3):c.293C>G (p.S98C), TMEM237(NM_152388.4):c.293C>G (p.S98C) - TMEM237_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 2 - c.348G>A r.(?) p.(Ala116=) - likely benign g.202498081C>T g.201633358C>T TMEM237(NM_152388.3):c.324G>A (p.A108=) - TMEM237_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.395+7A>G r.(=) p.(=) - benign g.202498027T>C g.201633304T>C TMEM237(NM_152388.4):c.371+7A>G - TMEM237_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.418C>T r.(?) p.(Gln140Ter) - pathogenic g.202496909G>A - TMEM237(NM_152388.3):c.394C>T (p.Q132*) - TMEM237_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.439G>A r.(?) p.(Val147Ile) - likely benign g.202496888C>T - TMEM237(NM_152388.3):c.415G>A (p.V139I) - TMEM237_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.499A>G r.(?) p.(Thr167Ala) - VUS g.202496828T>C g.201632105T>C TMEM237(NM_152388.3):c.475A>G (p.T159A) - TMEM237_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.554-56del r.(=) p.(=) - benign g.202494641del g.201629918del TMEM237(NM_152388.4):c.530-56delA - TMEM237_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.554-10G>A r.(=) p.(=) - likely benign g.202494585C>T g.201629862C>T TMEM237(NM_152388.3):c.530-10G>A - TMEM237_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.664C>T r.(?) p.(His222Tyr) - VUS g.202494465G>A - TMEM237(NM_152388.3):c.640C>T (p.H214Y) - TMEM237_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 3 8i c.677+1G>T r.[560_751del, 554_677del] p.[Phe187_Ala251delinsSer, Arg186*] - pathogenic g.202494451C>A g.201629728C>A - - TMEM237_000002 - PubMed: Janecke 2004, PubMed: Huang 2011 - - Germline - - - - - Lijia Huang
-/. 1 - c.677+116T>C r.(=) p.(=) - benign g.202494336A>G g.201629613A>G TMEM237(NM_152388.4):c.653+116T>C - TMEM237_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 9 c.709del r.(?) p.(Ala237Leufs*10) - pathogenic g.202494113del, g.202494114del g.201629391del c.709del (p.Ala237Leufs*10) - TMEM237_000007 - PubMed: Watson 2016, PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - Christopher Watson
+/+, +/. 2 9i c.869+1G>A r.678_869del, r.spl? p.M227_R290del, p.Met227_Arg290del - pathogenic g.202493952C>T g.201629229C>T c.869+1G>A - TMEM237_000006 - PubMed: alazami-2012 - - Germline yes - - - - Anas M Alazami
-/., -?/. 2 - c.870-13_870-12del r.(=) p.(=) - benign, likely benign g.202492886_202492887del g.201628163_201628164del TMEM237(NM_001044385.2):c.870-13_870-12delTT, TMEM237(NM_152388.4):c.846-13_846-12delTT - TMEM237_000011, TMEM237_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+, +/., +?/. 4 10i c.943+1G>T r.870_1037del, r.spl, r.spl? p.(?), p.?, p.Ile291_Trp346del - likely pathogenic, pathogenic g.202492798C>A g.201628075C>A c.943+1G>T, NM_001044385.2:c.943+1G>T - TMEM237_000005 not in over 210 control chromosomes PubMed: Bachmann-Gagescu 2015, PubMed: Brooks 2018, PubMed: Huang 2011, PubMed: Summers 2017 - - Germline ? - - - - Lijia Huang
-?/. 1 - c.1065C>G r.(?) p.(Leu355=) - likely benign g.202490843G>C g.201626120G>C TMEM237(NM_152388.3):c.1041C>G (p.L347=) - TMEM237_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 12 c.1066dup r.(?) p.(Gln356Profs*24), p.(Gln356ProfsTer24) - pathogenic g.202490843dup g.201626120dup TMEM237(NM_152388.4):c.1042dupC (p.Q348Pfs*24) - TMEM237_000003, TMEM237_000024 not in over 210 control chromosomes, VKGL data sharing initiative Nederland PubMed: Huang 2011 - - CLASSIFICATION record, Germline - - - - - Lijia Huang, VKGL-NL_Utrecht
-/., -?/. 3 - c.1096G>T r.(?) p.(Ala366Ser) - benign, likely benign g.202490812C>A g.201626089C>A TMEM237(NM_001044385.2):c.1096G>T (p.A366S) - TMEM237_000008 1 homozygous; Clinindb (India), 72 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs73989521 CLASSIFICATION record, Germline - 1/2794 individuals, 72/2794 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.1182G>A r.(?) p.(Val394=) - likely benign g.202489023C>T g.201624300C>T TMEM237(NM_152388.3):c.1158G>A (p.V386=) - TMEM237_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*5303C>A r.(=) p.(=) - VUS g.202483675G>T g.201618952G>T ALS2CR11(NM_001168216.1):c.179C>A (p.(Thr60Lys)) - ALS2CR11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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