Unique variants in the EHMT1 gene

Information The variants shown are described using the NM_024757.4 transcript reference sequence.

139 entries on 2 pages. Showing entries 1 - 100.
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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.-4736C>T r.(?) p.(=) - likely benign g.140508745C>T g.137614293C>T ARRDC1(NM_152285.2):c.619-6C>T (p.(=)) - ARRDC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-4242C>T r.(?) p.(=) - likely benign g.140509239C>T g.137614787C>T ARRDC1(NM_152285.2):c.1024C>T (p.(Arg342Trp)) - ARRDC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 8 _1_27_ c.0 r.0 p.0 - pathogenic g.(138015000_139780000)_(140731000_140770000)del, g.(138015000_139780000)_(140772000_141019000)del, 6 more items - - - EHMT1_000000 3.1Mb deletion from OLFM1 to CACNA1B, 3 more items PubMed: Kleefstra 2006, PubMed: Kleefstra 2006, PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - 1/23 cases - - - Johan den Dunnen
+/. 1 _1_9 c.? r.0 p.0 - pathogenic g.(140450000_140476000)_(140512500_140669560)del - - - EHMT1_000000 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.44C>T r.(?) p.(Pro15Leu) - likely benign g.140605441C>T g.137710989C>T EHMT1(NM_001145527.1):c.44C>T (p.(Pro15Leu)) - EHMT1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.148G>A r.(?) p.(Ala50Thr) - benign g.140611140G>A g.137716688G>A - - EHMT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.149C>G r.(?) p.(Ala50Gly) - likely benign g.140611141C>G g.137716689C>G - - EHMT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.149C>T r.(?) p.(Ala50Val) - likely benign g.140611141C>T g.137716689C>T EHMT1(NM_001145527.1):c.149C>T (p.(Ala50Val)) - EHMT1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.159G>T r.(?) p.(Glu53Asp) - likely benign g.140611151G>T g.137716699G>T EHMT1(NM_001145527.1):c.159G>T (p.(Glu53Asp)) - EHMT1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.224A>T r.(?) p.(Asp75Val) ACMG VUS g.140611216A>T g.137716764A>T - - EHMT1_000129 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.229G>A r.(?) p.(Ala77Thr) - likely benign g.140611221G>A g.137716769G>A EHMT1(NM_001145527.1):c.229G>A (p.(Ala77Thr)) - EHMT1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.244del r.(?) p.(Gln82ArgfsTer7) - pathogenic g.140611236del g.137716784del EHMT1(NM_024757.4):c.244delC (p.Q82Rfs*7) - EHMT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.354T>G r.(?) p.(Ser118=) - likely benign g.140611346T>G g.137716894T>G EHMT1(NM_024757.4):c.354T>G (p.S118=) - EHMT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.390G>T r.(?) p.(Pro130=) - likely benign g.140611382G>T - EHMT1(NM_024757.4):c.390G>T (p.P130=) - EHMT1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.405G>T r.(?) p.(Gln135His) ACMG likely benign g.140611397G>T g.137716945G>T - - EHMT1_000130 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.444T>C r.(?) p.(Pro148=) - benign g.140611436T>C g.137716984T>C - - EHMT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.480C>T r.(?) p.(Gly160=) - benign, likely benign g.140611472C>T g.137717020C>T EHMT1(NM_024757.4):c.480C>T (p.G160=) - EHMT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.482A>G r.(?) p.(Lys161Arg) - likely benign g.140611474A>G g.137717022A>G - - EHMT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.526C>T r.(?) p.(Pro176Ser) - benign g.140611518C>T g.137717066C>T EHMT1(NM_024757.4):c.526C>T (p.P176S) - EHMT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.578C>T r.(?) p.(Ala193Val) - likely benign g.140611570C>T g.137717118C>T EHMT1(NM_001145527.1):c.578C>T (p.(Ala193Val)) - EHMT1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.581C>T r.(?) p.(Pro194Leu) - likely benign g.140611573C>T - EHMT1(NM_024757.4):c.581C>T (p.P194L) - EHMT1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.623C>T r.(?) p.(Pro208Leu) - VUS g.140611615C>T g.137717163C>T - - EHMT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.624G>A r.(?) p.(Pro208=) - likely benign g.140611616G>A g.137717164G>A EHMT1(NM_024757.4):c.624G>A (p.P208=) - EHMT1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.631G>A r.(?) p.(Val211Ile) - likely benign g.140611623G>A g.137717171G>A EHMT1(NM_024757.4):c.631G>A (p.V211I) - EHMT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.632T>C r.(?) p.(Val211Ala) ACMG likely benign, VUS g.140611624T>C g.137717172T>C EHMT1(NM_024757.4):c.632T>C (p.V211A) - EHMT1_000117 VKGL data sharing initiative Nederland - - rs764569458 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam
+?/. 1 - c.643-2A>G r.(?) p.(?) - likely pathogenic g.140622799A>G g.137728347A>G - - EHMT1_000118 - - - - Unknown - - - - - IMGAG
+/. 1 - c.673C>T r.(?) p.(Arg225*) ACMG pathogenic (dominant) g.140622831C>T - - - EHMT1_000140 ACMG: PVS1, PS2; PM2: class 5 - ClinVar-000252987 - Germline/De novo (untested) ? - - - - Andreas Laner
?/. 1 - c.704A>G r.(?) p.(Glu235Gly) - VUS g.140622862A>G - - - EHMT1_000145 - - - - De novo - - - - - Ke Xu
+/. 1 - c.736C>T r.(?) p.(Arg246Ter) - pathogenic g.140622894C>T g.137728442C>T - - EHMT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.737G>A r.(?) p.(Arg246Gln) - likely benign g.140622895G>A g.137728443G>A EHMT1(NM_001145527.1):c.737G>A (p.(Arg246Gln)) - EHMT1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.750A>C r.(?) p.(Leu250Phe) ACMG VUS g.140622908A>C g.137728456A>C - - EHMT1_000131 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.823G>A r.(?) p.(Ala275Thr) - pathogenic g.140622981G>A g.137728529G>A - - EHMT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.824-2A>T r.spl? p.? - likely benign g.140637821A>T g.137743369A>T EHMT1(NM_001145527.1):c.824-2A>T (p.?) - EHMT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.824-2_824del r.spl? p.? - VUS g.140637821_140637823del g.137743369_137743371del EHMT1(NM_001145527.1):c.824-2_824del (p.?) - EHMT1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.824-1G>T r.spl? p.? - likely benign g.140637822G>T g.137743370G>T EHMT1(NM_001145527.1):c.824-1G>T (p.?) - EHMT1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.827G>T r.(?) p.(Cys276Phe) - likely benign g.140637826G>T g.137743374G>T EHMT1(NM_001145527.1):c.827G>T (p.(Cys276Phe)) - EHMT1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.827_828del r.(?) p.(Cys276PhefsTer21) - VUS g.140637826_140637827del g.137743374_137743375del EHMT1(NM_001145527.1):c.827_828del (p.(Cys276PhefsTer21)) - EHMT1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.831G>T r.(?) p.(Leu277Phe) - likely benign g.140637830G>T g.137743378G>T EHMT1(NM_001145527.1):c.831G>T (p.(Leu277Phe)) - EHMT1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.831_833del r.(?) p.(Leu277_Pro278delinsPhe) - likely benign g.140637830_140637832del g.137743378_137743380del EHMT1(NM_001145527.1):c.831_833del (p.(Leu277_Pro278delinsPhe)) - EHMT1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.832C>T r.(?) p.(Pro278Ser) - likely benign g.140637831C>T g.137743379C>T EHMT1(NM_001145527.1):c.832C>T (p.(Pro278Ser)) - EHMT1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.833C>T r.(?) p.(Pro278Leu) - likely benign g.140637832C>T g.137743380C>T EHMT1(NM_001145527.1):c.833C>T (p.(Pro278Leu)) - EHMT1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.837_838insTTTTTTTT r.(?) p.(Val280PhefsTer5) - likely benign g.140637836_140637837insTTTTTTTT g.137743384_137743385insTTTTTTTT EHMT1(NM_001145527.1):c.833_834insTTTTTTTT (p.(Val280PhefsTer5)) - EHMT1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.838G>T r.(?) p.(Val280Phe) - likely benign g.140637837G>T g.137743385G>T EHMT1(NM_024757.4):c.838G>T (p.V280F) - EHMT1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.861del r.(?) p.(Lys288Argfs*20) - pathogenic (dominant) g.140637860del g.137743408del 860delG - EHMT1_000148 - - - - De novo - - - - - Ke Xu
+/. 1 5 c.871C>T r.(?) p.(Arg291*) - pathogenic g.140637870C>T g.137743418C>T 778C>T (Arg260X) - EHMT1_000006 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009, OMIM:var0004 - rs137852714 Unknown - - - - - Johan den Dunnen
-?/., ?/. 2 5 c.905A>G r.(?) p.(Lys302Arg) ACMG likely benign, VUS g.140637904A>G g.137743452A>G EHMT1(NM_001145527.1):c.905A>G (p.(Lys302Arg)) - EHMT1_000093 VKGL data sharing initiative Nederland PubMed: Squeo 2020 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - Johan den Dunnen, VKGL-NL_Leiden
-?/. 1 - c.932C>T r.(?) p.(Thr311Met) - likely benign g.140637931C>T g.137743479C>T EHMT1(NM_024757.5):c.932C>T (p.T311M) - EHMT1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1044G>A r.(?) p.(Ser348=) - benign g.140638416G>A g.137743964G>A - - EHMT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.1089T>C r.(?) p.(Gly363=) - benign g.140638461T>C g.137744009T>C EHMT1(NM_024757.5):c.1089T>C (p.G363=) - EHMT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 6 c.1132_1134delinsT r.(?) p.(Ser378*) - pathogenic g.140638504_140638506delTCinsT g.137744052_137744054delinsT - - EHMT1_000001 1 more item PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-/. 1 - c.1368C>T r.(?) p.(Leu456=) - benign g.140648742C>T g.137754290C>T - - EHMT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1402G>A r.(?) p.(Ala468Thr) - likely benign g.140652364G>A g.137757912G>A EHMT1(NM_024757.4):c.1402G>A (p.A468T) - EHMT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 9 c.1413_1425del r.(?) p.(Pro473Glnfs*86) - pathogenic g.140652375_140652387del g.137757923_137757935del 1320_1332del13 (P442fs) - EHMT1_000003 - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006, OMIM:var0002 - rs137852715 De novo - 1/23 cases - - - Johan den Dunnen
+/. 1 10 c.1533_1536del r.(?) p.(Asp512Alafs*50) - pathogenic g.140657158_140657161del g.137762706_137762709del 1440_1443del (Asp481fs) - EHMT1_000008 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - Johan den Dunnen
+/. 1 - c.1543C>T r.(?) p.(Gln515*) - pathogenic g.140657168C>T g.137762716C>T - - EHMT1_000017 - - - - Unknown - - - - - IMGAG
+/. 1 11_25 c.(1501+1_1648-1)_(3540+1_?)del r.? p.? - pathogenic g.(140652464_140669560)_(140712590_147310000)del - - - EHMT1_000000 60kb deletion exons 11-25 (ex 9 normal) PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.1647+12T>G r.(=) p.(=) - likely benign g.140657284T>G - EHMT1(NM_001354611.1):c.1659T>G (p.F553L) - EHMT1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1743C>T r.(?) p.(Arg581=) - benign g.140669656C>T g.137775204C>T EHMT1(NM_024757.4):c.1743C>T (p.R581=) - EHMT1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1791G>A r.(?) p.(Ala597=) - VUS g.140669704G>A g.137775252G>A EHMT1(NM_024757.4):c.1791G>A (p.(=)) - EHMT1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 12 c.1810C>T r.(?) p.(Gln604*) - pathogenic g.140671088C>T g.137776636C>T 1717C>T (Gln573X ) - EHMT1_000009 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.1848C>A r.(?) p.(Asp616Glu) - likely benign g.140671126C>A - EHMT1(NM_024757.4):c.1848C>A (p.D616E) - EHMT1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1858C>T r.(?) p.(Arg620Ter) - pathogenic g.140671136C>T g.137776684C>T - - EHMT1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1869C>T r.(?) p.(Asn623=) - benign g.140671147C>T g.137776695C>T - - EHMT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2127C>T r.(?) p.(Pro709=) - likely benign g.140672442C>T g.137777990C>T EHMT1(NM_024757.4):c.2127C>T (p.P709=) - EHMT1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2128G>A r.(?) p.(Gly710Ser) - likely benign g.140672443G>A - EHMT1(NM_024757.4):c.2128G>A (p.G710S) - EHMT1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2142A>G r.(?) p.(Gly714=) - likely benign g.140672457A>G g.137778005A>G - - EHMT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 13i c.2193-1G>C r.spl? p.? - pathogenic g.140674086G>C g.137779634G>C 2100-1G>C - EHMT1_000004 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.2264T>G r.(?) p.(Leu755Arg) - likely pathogenic g.140674158T>G g.137779706T>G - - EHMT1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2273T>C r.(?) p.(Leu758Pro) - VUS g.140674167T>C - - - EHMT1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2276-2A>G r.spl? p.? - pathogenic g.140676741A>G g.137782289A>G EHMT1(NM_024757.4):c.2276-2A>G - EHMT1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2280C>T r.(?) p.(Asp760=) - likely benign g.140676747C>T - EHMT1(NM_024757.4):c.2280C>T (p.D760=) - EHMT1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2333A>C r.(?) p.(His778Pro) - likely pathogenic g.140676800A>C - EHMT1(NM_024757.4):c.2333A>C (p.H778P) - EHMT1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2382G>A r.(?) p.(Gln794Gln) - VUS g.140676849G>A g.137782397G>A - - EHMT1_000122 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.2405G>C r.(?) p.(Cys802Ser) - VUS g.140685322G>C g.137790870G>C - - EHMT1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 - c.2426C>T r.(?) p.(Pro809Leu) ACMG likely pathogenic g.140685343C>T g.137790891C>T - - EHMT1_000132 - PubMed: Faundes 2018 - - De novo, Unknown - - - - - Johan den Dunnen, IMGAG
-?/. 1 - c.2493G>C r.(?) p.(Leu831=) - likely benign g.140685410G>C - EHMT1(NM_024757.4):c.2493G>C (p.L831=) - EHMT1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2566C>T r.(?) p.(Gln856Ter) - likely pathogenic g.140693325C>T g.137798873C>T EHMT1(NM_024757.4):c.2566C>T (p.(Gln856Ter)) - EHMT1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2587C>T r.(?) p.(Gln863Ter) - pathogenic g.140693346C>T g.137798894C>T - - EHMT1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2645_2646del r.(?) p.(Glu882ValfsTer16) - pathogenic g.140695369_140695370del - EHMT1(NM_024757.5):c.2645_2646delAG (p.E882Vfs*16) - EHMT1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.2675T>G r.(?) p.(Leu892Arg) - likely pathogenic g.140695399T>G g.137800947T>G EHMT1(NM_024757.4):c.2675T>G (p.L892R) - EHMT1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 - c.2704C>T r.(?) p.(Arg902*), p.(Arg902Ter) ACMG pathogenic, pathogenic (dominant) g.140695428C>T g.137800976C>T EHMT1(NM_024757.4):c.2704C>T (p.R902*) - EHMT1_000058 ACMG: PVS1, PS2, PM2: class 5, VKGL data sharing initiative Nederland - ClinVar-000280682 - CLASSIFICATION record, De novo ? - - - - Andreas Laner, VKGL-NL_VUmc
+?/. 1 - c.2708A>G r.(?) p.(Asp903Gly) - VUS g.140695432A>G - - - EHMT1_000146 - - - - De novo - - - - - Ke Xu
?/. 1 - c.2750G>A r.(?) p.(Gly917Asp) - VUS g.140705950G>A g.137811498G>A EHMT1(NM_024757.5):c.2750G>A (p.G917D) - EHMT1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2799C>T r.(?) p.(His933=) - likely benign g.140705999C>T - EHMT1(NM_024757.4):c.2799C>T (p.H933=) - EHMT1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2822C>A r.(?) p.(Ser941Ter) - pathogenic g.140706022C>A g.137811570C>A EHMT1(NM_024757.5):c.2822C>A (p.S941*) - EHMT1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2828T>C r.(?) p.(Leu943Pro) - VUS g.140706028T>C - - - EHMT1_000147 - - - - De novo - - - - - Ke Xu
+?/. 1 - c.2830C>T r.(?) p.(His944Tyr) ACMG likely pathogenic g.140706030C>T g.137811578C>T - - EHMT1_000133 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
+?/., ?/. 2 - c.2842C>T r.(?) p.(Arg948Trp) - likely pathogenic, VUS g.140706042C>T g.137811590C>T EHMT1(NM_024757.4):c.2842C>T (p.R948W) - EHMT1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 19i c.2868-1G>A r.spl? p.? - pathogenic g.140707457G>A g.137813005G>A 2775-1G>A - EHMT1_000005 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.2873_2878del r.(?) p.(Phe958_Leu959del) - likely pathogenic g.140707463_140707468del - EHMT1(NM_024757.4):c.2873_2878delTTCTTT (p.F958_L959del) - EHMT1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.2877_2880del r.(?) p.(Ser960Glyfs*7) ACMG pathogenic g.140707467_140707470del g.137813015_137813018del 2870_2873delTCTT - EHMT1_000041 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
+/. 2 - c.2929C>T r.(?) p.(Gln977Ter) - pathogenic g.140707519C>T g.137813067C>T EHMT1(NM_024757.5):c.2929C>T (p.Q977*) - EHMT1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.2945A>G r.(?) p.(Asn982Ser) - VUS g.140707535A>G g.137813083A>G EHMT1(NM_024757.4):c.2945A>G (p.N982S) - EHMT1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2962G>A r.(?) p.(Ala988Thr) - likely benign g.140707552G>A g.137813100G>A - - EHMT1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2968C>T r.(?) p.(Gln990*) ACMG likely pathogenic (dominant) g.140707558C>T g.137813106C>T - - EHMT1_000127 ACMG PVS1,PM2 PubMed: Anazi 2017 - - De novo - - - - - Johan den Dunnen
-/., -?/., ?/. 3 - c.2970G>T r.(?) p.(Gln990His) - benign, likely benign, VUS g.140707560G>T g.137813108G>T EHMT1(NM_024757.4):c.2970G>T (p.Q990H, p.(Gln990His)) - EHMT1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.3016G>A r.(?) p.(Val1006Met) - likely benign g.140707606G>A - EHMT1(NM_024757.4):c.3016G>A (p.V1006M) - EHMT1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3035+1G>A r.spl? p.? - pathogenic g.140707626G>A g.137813174G>A - - EHMT1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.3036-1G>T r.spl? p.? ACMG likely pathogenic (dominant) g.140707837G>T - - - EHMT1_000144 ACMG: PVS1, PM2_SUP: class 4 - - - Germline ? - - - - Andreas Laner
+/. 2 - c.3046C>T r.(?) p.(Arg1016Ter) - pathogenic g.140707848C>T g.137813396C>T EHMT1(NM_024757.4):c.3046C>T (p.R1016*) - EHMT1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
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