Full data view for gene SUZ12

Information The variants shown are described using the NM_015355.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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     
+/. _1_16_ c.-222_2035[2] r.? p.? Unknown - pathogenic (dominant) g.(?_28997866)_(30391813_?)dup - 17q11.2dup - SUZ12_000015 - PubMed: Choufani 2020 - - Germline/De novo (untested) - - - - no EZH2 methylation signature DNA SEQ - - ? EX0209 PubMed: Choufani 2020 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.98C>T r.(?) p.(Ala33Val) Unknown - likely benign g.30264363C>T - SUZ12(NM_015355.2):c.98C>T (p.(Ala33Val)), SUZ12(NM_015355.4):c.98C>T (p.A33V) - SUZ12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98C>T r.(?) p.(Ala33Val) Unknown - VUS g.30264363C>T - SUZ12(NM_015355.2):c.98C>T (p.(Ala33Val)), SUZ12(NM_015355.4):c.98C>T (p.A33V) - SUZ12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167C>T r.(?) p.(Ser56Phe) Unknown - VUS g.30264432C>T - SUZ12(NM_015355.2):c.167C>T (p.(Ser56Phe)) - SUZ12_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175_177del r.(?) p.(Ser59del) Unknown - VUS g.30264440_30264442del - SUZ12(NM_015355.4):c.175_177del (p.(Ser59del)) - SUZ12_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196G>A r.(?) p.(Ala66Thr) Unknown - likely benign g.30264461G>A - SUZ12(NM_015355.4):c.196G>A (p.A66T) - SUZ12_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.211G>A r.(?) p.(Val71Met) Unknown - likely benign g.30264476G>A - SUZ12(NM_001321207.1):c.211G>A (p.(Val71Met)) - SUZ12_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.274+8T>C r.(=) p.(=) Unknown - likely benign g.30264547T>C g.31937528T>C SUZ12(NM_001321207.1):c.274+8T>C (p.(=)) - SUZ12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.275-5C>G r.spl? p.? Maternal (confirmed) - pathogenic (dominant) g.30267300C>G g.31940281C>G IVS1‐5C>G - SUZ12_000019 - PubMed: Cyrus 2019 - - Germline - - - - - DNA SEQ - WES ? Pat9 PubMed: Cyrus 2019 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.348_351del r.(?) p.(Tyr117Cysfs*24) Unknown - pathogenic (dominant) g.30267467_30267470del g.31940448_31940451del 348_351delTTAC - SUZ12_000020 - PubMed: Cyrus 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - gene panel ? Pat7 PubMed: Cyrus 2019 - F - United States - - - - - 1 Johan den Dunnen
-?/. - c.456-4_456-3dup r.spl? p.? Unknown - likely benign g.30293162_30293163dup - SUZ12(NM_015355.2):c.456-4_456-3dupTT (p.?) - SUZ12_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456-2A>T r.spl? p.? Unknown - likely benign g.30293164A>T g.31966145A>T SUZ12(NM_015355.2):c.456-2A>T (p.?) - SUZ12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456-1G>T r.spl? p.? Unknown - likely benign g.30293165G>T g.31966146G>T SUZ12(NM_015355.2):c.456-1G>T (p.?) - SUZ12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456C>T r.(?) p.(Ser152=) Unknown - likely benign g.30293166C>T g.31966147C>T SUZ12(NM_015355.2):c.456C>T (p.(=)) - SUZ12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459G>T r.(?) p.(Leu153Phe) Unknown - likely benign g.30293169G>T g.31966150G>T SUZ12(NM_015355.2):c.459G>T (p.(Leu153Phe)) - SUZ12_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.523T>A r.(?) p.(Ser175Thr) Unknown - pathogenic (dominant) g.30300182T>A g.31973163T>A - - SUZ12_000013 - PubMed: Choufani 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? M/R728468(2) PubMed: Choufani 2020 - M - - - - - - - 1 Johan den Dunnen
?/. - c.628A>G r.(?) p.(Lys210Glu) Unknown - VUS g.30302537A>G - SUZ12(NM_015355.4):c.628A>G (p.(Lys210Glu)) - SUZ12_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.844_845del r.(?) p.(Ala282Glnfs*7) Unknown - pathogenic (dominant) g.30303560_30303561del g.31976541_31976542del - - SUZ12_000017 - PubMed: Imagawa 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Fam2PatII1 PubMed: Imagawa 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - 1 Johan den Dunnen
?/. - c.863G>C r.(?) p.(Arg288Pro) Unknown - VUS g.30303579G>C - SUZ12(NM_015355.4):c.863G>C (p.R288P) - SUZ12_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.917+2885del r.(=) p.(=) Unknown - likely benign g.30306518del - SUZ12(NM_015355.4):c.917+2885del - SUZ12_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1023+1G>C r.spl? p.? Unknown - likely pathogenic g.30310124G>C - SUZ12(NM_015355.2):c.1023+1G>C (p.?) - SUZ12_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1023+288C>A r.(=) p.(=) Unknown - likely benign g.30310411C>A - SUZ12(NM_015355.4):c.1023+288C>A - SUZ12_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1190C>T r.(?) p.(Thr397Ile) Unknown - VUS g.30315505C>T - SUZ12(NM_015355.2):c.1190C>T (p.(Thr397Ile)) - SUZ12_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1223C>G r.(?) p.(Thr408Arg) Unknown - likely benign g.30320282C>G - SUZ12(NM_015355.2):c.1223C>G (p.(Thr408Arg)) - SUZ12_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1233A>C r.(?) p.(Gln411His) Unknown - likely benign g.30320292A>C - SUZ12(NM_015355.2):c.1233A>C (p.(Gln411His)) - SUZ12_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1604G>A r.(?) p.(Arg535Gln) Unknown - pathogenic (dominant) g.30322591G>A g.31995572G>A - - SUZ12_000021 - PubMed: Cyrus 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - WES ? Pat10 PubMed: Cyrus 2019 - F - United States - - - - - 1 Johan den Dunnen
-?/. - c.1671T>C r.(?) p.(Tyr557=) Unknown - likely benign g.30322658T>C - SUZ12(NM_001321207.1):c.1602T>C (p.(Tyr534=)) - SUZ12_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1715_1716insCA r.(?) p.(Leu572Phefs*11) Unknown - pathogenic (dominant) g.30322702_30322703insCA g.31995683_31995684insCA - - SUZ12_000011 - PubMed: Cyrus 2019, PubMed: Choufani 2020 - - De novo - - - - EZH2 methylation signature DNA SEQ - - ? Pat4/A1494-R PubMed: Cyrus 2019 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1794+1G>A r.spl p.? Unknown - pathogenic (dominant) g.30322782G>A g.31995763G>A IVS14+1G>A - SUZ12_000022 - PubMed: Cyrus 2019 - - De novo - - - - - DNA SEQ - WES ? Pat8 PubMed: Cyrus 2019 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.1797A>C r.(?) p.(Gln599His) Unknown - pathogenic (dominant) g.30323819A>C g.31996800A>C - - SUZ12_000016 mother not available PubMed: Imagawa 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? Fam1PatII3 PubMed: Imagawa 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.1807T>C r.(?) p.(Phe603Leu) Paternal (confirmed) - pathogenic (dominant) g.30323829T>C g.31996810T>C - - SUZ12_000014 inherited from affected father and mosaic in paternal grandfather PubMed: Cyrus 2019, PubMed: Choufani 2020 - - Germline - - - - - DNA SEQ - - ? Pat1/A1765 PubMed: Cyrus 2019 2-generation family, affected father/son M - Finland - - - - - 2 Johan den Dunnen
+/. - c.1807T>C r.(?) p.(Phe603Leu) Maternal (confirmed) - pathogenic (dominant) g.30323829T>C g.31996810T>C - - SUZ12_000014 - PubMed: Cyrus 2019 - - Germline - - - - - DNA SEQ - WES ? Pat2 PubMed: Cyrus 2019 - M - Finland - - - - - 1 Johan den Dunnen
+/. - c.1826dup r.(?) p.(Glu610Argfs*20) Unknown - pathogenic (dominant) g.30323848dup g.31996829dup 1826dupG - SUZ12_000023 - PubMed: Cyrus 2019 - - De novo - - - - - DNA SEQ - gene panel ? Pat6 PubMed: Cyrus 2019 - M - United States - - - - - 1 Johan den Dunnen
+?/. 15 c.1829A>T r.(?) p.(Glu610Val) Paternal (confirmed) - likely pathogenic g.30323851A>T g.31996832A>T - - SUZ12_000001 germline mosaicism in father - - - Germline - - - - - DNA SEQ-NG-I peripheral blood - - - - - F no Japan Japanese - - - - 1 Eri Imagawa
+/. - c.1829A>T r.(?) p.(Glu610Val) Paternal (confirmed) - pathogenic (dominant) g.30323851A>T g.31996832A>T - - SUZ12_000001 - PubMed: Imagawa 2017, PubMed: Choufani 2020 - - Germline - - - - EZH2 methylation signature DNA SEQ - - ? Pat3/EX0066 PubMed: Imagawa 2017 2-generation family, affected father/daughter, unaffected heterozygous carrier parents F - Japan - - - - - 2 Johan den Dunnen
+/. - c.1829A>T r.(?) p.(Glu610Val) Unknown - pathogenic (dominant) g.30323851A>T g.31996832A>T - - SUZ12_000001 mosaic PubMed: Imagawa 2017, PubMed: Choufani 2020 - - Germline/De novo (untested) - - - - no EZH2 methylation signature DNA SEQ - - ? Pat4/EX0067 PubMed: Imagawa 2017 father Pat3/EX0066 M - Japan - - - - - 1 Johan den Dunnen
?/. - c.1838_1839del r.(?) p.(Val613AspfsTer16) Unknown - VUS g.30323860_30323861del g.31996841_31996842del SUZ12(NM_015355.3):c.1838_1839delTG (p.V613Dfs*16) - SUZ12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1878del r.(?) p.(Phe626Leufs*7) Paternal (confirmed) - pathogenic (dominant) g.30325680del g.31998661del - - SUZ12_000012 mosaicism in father PubMed: Cyrus 2019, PubMed: Choufani 2020 - - Germline - - - - - DNA SEQ - - ? Pat3/HK5502 PubMed: Cyrus 2019 - M - China - - - - - 1 Johan den Dunnen
+/. - c.1960C>T r.(?) p.(Arg654*) Unknown - pathogenic (dominant) g.30325762C>T g.31998743C>T - - SUZ12_000018 - PubMed: Cyrus 2019 - - De novo - - - - - DNA SEQ - trio‐WGS ? Pat5 PubMed: Cyrus 2019 - M - Canada China - - - - 1 Johan den Dunnen
?/. - c.2036C>T r.(?) p.(Thr679Ile) Unknown - VUS g.30325838C>T g.31998819C>T SUZ12(NM_015355.3):c.2036C>T (p.T679I), SUZ12(NM_015355.4):c.2036C>T (p.T679I) - SUZ12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2036C>T r.(?) p.(Thr679Ile) Unknown - likely benign g.30325838C>T - SUZ12(NM_015355.3):c.2036C>T (p.T679I), SUZ12(NM_015355.4):c.2036C>T (p.T679I) - SUZ12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2177G>A r.(?) p.(Ser726Asn) Unknown - likely benign g.30325979G>A g.31998960G>A SUZ12(NM_015355.2):c.2177G>A (p.(Ser726Asn)) - SUZ12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2188dup r.(?) p.(Val730GlyfsTer27) Unknown - VUS g.30325990dup g.31998971dup SUZ12(NM_015355.3):c.2188dupG (p.V730Gfs*27) - SUZ12_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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