Full data view for gene SETD2

Information The variants shown are described using the NM_014159.6 transcript reference sequence.

166 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.19C>T r.(?) p.(Gln7*) Unknown - VUS g.47205396G>A - - - KIF9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71+9696G>A r.(=) p.(=) Unknown - likely benign g.47195648C>T - SETD2(NM_014159.7):c.71+9696G>A - SETD2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72-8298A>G r.(=) p.(=) Unknown - likely benign g.47176451T>C - SETD2(NM_014159.7):c.72-8298A>G - SETD2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72-8205G>A r.(=) p.(=) Unknown - likely benign g.47176358C>T - SETD2(NM_014159.7):c.72-8205G>A - SETD2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149C>T r.(?) p.(Ala50Val) Unknown - VUS g.47165977G>A - SETD2(NM_014159.6):c.149C>T (p.(Ala50Val)) - SETD2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.361G>A r.(?) p.(Gly121Ser) Unknown - likely benign g.47165765C>T - SETD2(NM_014159.6):c.361G>A (p.(Gly121Ser)) - SETD2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376A>G r.(?) p.(Thr126Ala) Unknown - likely benign g.47165750T>C - SETD2(NM_014159.6):c.376A>G (p.T126A) - SETD2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.388T>C r.(?) p.(Ser130Pro) Unknown - likely benign g.47165738A>G g.47124248A>G SETD2(NM_014159.6):c.388T>C (p.S130P) - SETD2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393C>T r.(?) p.(Ser131=) Unknown - likely benign g.47165733G>A - SETD2(NM_014159.6):c.393C>T (p.S131=) - SETD2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.424A>G r.(?) p.(Ile142Val) Unknown - VUS g.47165702T>C - - - SETD2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.557C>T r.(?) p.(Pro186Leu) Unknown - VUS g.47165569G>A - SETD2(NM_014159.6):c.557C>T (p.(Pro186Leu)) - SETD2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579_587del r.(?) p.(Pro194_Pro196del) Unknown - likely benign g.47165550_47165558del - SETD2(NM_014159.7):c.579_587del (p.(Pro194_Pro196del)) - SETD2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.595G>A r.(?) p.(Ala199Thr) Unknown - likely benign g.47165531C>T - SETD2(NM_014159.6):c.595G>A (p.(Ala199Thr)) - SETD2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757G>T r.(?) p.(Asp253Tyr) Unknown - VUS g.47165369C>A - SETD2(NM_014159.7):c.757G>T (p.D253Y) - SETD2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.788del r.(?) p.(Leu263*) Unknown - likely pathogenic g.47165340del - SETD2(NM_014159.7):c.788del (p.(Leu263*)) - SETD2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.820C>T r.(?) p.(Gln274*) Unknown - likely pathogenic g.47165306G>A g.47123816G>A - - SETD2_000001 - PubMed: Luscan 2014, Journal: Luscan 2014 - - Germline/De novo (untested) - 1/16 patients - - - DNA SEQ-NG Blood - MALNS;SOTOS2 - PubMed: Luscan 2014, Journal: Luscan 2014 Molecular Diagnostic Department; adopted child F ? France white >22y - - - 1 Eric Pasmant
-?/. - c.1066G>A r.(?) p.(Ala356Thr) Unknown - likely benign g.47165060C>T - SETD2(NM_014159.6):c.1066G>A (p.(Ala356Thr)) - SETD2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1117A>G r.(?) p.(Arg373Gly) Unknown ACMG VUS g.47165009T>C g.47123519T>C - - SETD2_000086 ACMG: PM2_SUP, PP2, BP4 - - - Germline ? - - - - DNA SEQ-NG-I Blood - LLS 260488 - - M ? ? (unknown) - - - - - 1 Andreas Laner
?/. - c.1180T>C r.(?) p.(Cys394Arg) Unknown - VUS g.47164946A>G g.47123456A>G - - SETD2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1204C>T r.(?) p.(Arg402Trp) Maternal (confirmed) ACMG VUS g.47164922G>A g.47123432G>A - - SETD2_000055 - PubMed: Faundes 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 260963 PubMed: Faundes 2018 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1204C>T r.(?) p.(Arg402Trp) Unknown - VUS g.47164922G>A - SETD2(NM_014159.6):c.1204C>T (p.(Arg402Trp)) - SETD2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1205G>A r.(?) p.(Arg402Gln) Unknown - likely benign g.47164921C>T - SETD2(NM_014159.6):c.1205G>A (p.(Arg402Gln)) - SETD2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1294C>G r.(?) p.(Arg432Gly) Unknown - VUS g.47164832G>C g.47123342G>C SETD2(NM_014159.6):c.1294C>G (p.R432G) - SETD2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1343G>A r.(?) p.(Arg448Gln) Unknown - likely benign g.47164783C>T - SETD2(NM_014159.6):c.1343G>A (p.(Arg448Gln)) - SETD2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1412G>A r.(?) p.(Arg471Lys) Unknown - likely benign g.47164714C>T g.47123224C>T SETD2(NM_014159.6):c.1412G>A (p.(Arg471Lys)) - SETD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1415G>A r.(?) p.(Arg472His) Unknown - VUS g.47164711C>T g.47123221C>T SETD2(NM_014159.6):c.1415G>A (p.(Arg472His)), SETD2(NM_014159.7):c.1415G>A (p.R472H) - SETD2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1415G>A r.(?) p.(Arg472His) Unknown - likely benign g.47164711C>T - SETD2(NM_014159.6):c.1415G>A (p.(Arg472His)), SETD2(NM_014159.7):c.1415G>A (p.R472H) - SETD2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1562C>T r.(?) p.(Thr521Ile) Unknown - likely benign g.47164564G>A - SETD2(NM_014159.6):c.1562C>T (p.T521I) - SETD2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1619G>A r.(?) p.(Arg540Gln) Unknown - VUS g.47164507C>T - SETD2(NM_014159.7):c.1619G>A (p.(Arg540Gln)) - SETD2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1626G>C r.(?) p.(Gly542=) Unknown - likely benign g.47164500C>G - SETD2(NM_014159.6):c.1626G>C (p.G542=) - SETD2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1647_1652del r.(?) p.(Ser550_Ser551del) Unknown - VUS g.47164474_47164479del g.47122984_47122989del SETD2(NM_014159.6):c.1647_1652del (p.(Ser550_Ser551del)) - SETD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1655_1667del r.(?) p.(Ala552AspfsTer23) Unknown - VUS g.47164459_47164471del g.47122969_47122981del SETD2(NM_014159.6):c.1655_1667del (p.(Ala552AspfsTer23)) - SETD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1706T>G r.(?) p.(Phe569Cys) Unknown - VUS g.47164420A>C - SETD2(NM_014159.7):c.1706T>G (p.F569C) - SETD2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1734A>T r.(?) p.(Leu578Phe) Unknown - likely benign g.47164392T>A - - - SETD2_000090 - - - rs138401612 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1775C>A r.(?) p.(Thr592Lys) Unknown - VUS g.47164351G>T - SETD2(NM_014159.6):c.1775C>A (p.(Thr592Lys)) - SETD2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1833G>T r.(?) p.(Lys611Asn) Unknown - likely benign g.47164293C>A - SETD2(NM_014159.7):c.1833G>T (p.(Lys611Asn)) - SETD2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1859G>T r.(?) p.(Arg620Leu) Unknown - VUS g.47164267C>A - SETD2(NM_014159.6):c.1859G>T (p.(Arg620Leu)) - SETD2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1885A>G r.(?) p.(Lys629Glu) Unknown - likely benign g.47164241T>C - SETD2(NM_014159.7):c.1885A>G (p.K629E) - SETD2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1984del r.(?) p.(Gln662AsnfsTer2) Unknown - likely pathogenic g.47164142del g.47122652del SETD2(NM_014159.6):c.1984delC (p.Q662Nfs*2) - SETD2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.2000G>A r.(?) p.(Cys667Tyr) Unknown ACMG VUS g.47164126C>T g.47122636C>T - - SETD2_000058 - PubMed: Squeo 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1433 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - 1 Johan den Dunnen
?/. - c.2057T>C r.(?) p.(Phe686Ser) Unknown - VUS g.47164069A>G - SETD2(NM_014159.6):c.2057T>C (p.(Phe686Ser)) - SETD2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2096A>G r.(?) p.(Asp699Gly) Unknown - likely benign g.47164030T>C g.47122540T>C SETD2(NM_014159.6):c.2096A>G (p.(Asp699Gly)) - SETD2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2101A>C r.(?) p.(Ser701Arg) Unknown - likely benign g.47164025T>G g.47122535T>G SETD2(NM_014159.6):c.2101A>C (p.(Ser701Arg)) - SETD2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2114C>T r.(?) p.(Ser705Leu) Unknown - likely benign g.47164012G>A - SETD2(NM_014159.6):c.2114C>T (p.(Ser705Leu)) - SETD2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2155A>G r.(?) p.(Asn719Asp) Parent #1 - VUS g.47163971T>C g.47122481T>C - - SETD2_000045 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115859828 Germline - 4/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.2155A>G r.(?) p.(Asn719Asp) Unknown - likely benign g.47163971T>C - SETD2(NM_014159.6):c.2155A>G (p.(Asn719Asp)), SETD2(NM_014159.7):c.2155A>G (p.N719D) - SETD2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2155A>G r.(?) p.(Asn719Asp) Unknown - likely benign g.47163971T>C - SETD2(NM_014159.6):c.2155A>G (p.(Asn719Asp)), SETD2(NM_014159.7):c.2155A>G (p.N719D) - SETD2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2251C>A r.(?) p.(Pro751Thr) Unknown - likely benign g.47163875G>T g.47122385G>T SETD2(NM_014159.6):c.2251C>A (p.P751T, p.(Pro751Thr)) - SETD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2251C>A r.(?) p.(Pro751Thr) Unknown - likely benign g.47163875G>T - SETD2(NM_014159.6):c.2251C>A (p.P751T, p.(Pro751Thr)) - SETD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2275A>G r.(?) p.(Lys759Glu) Unknown - likely benign g.47163851T>C - SETD2(NM_014159.6):c.2275A>G (p.(Lys759Glu)) - SETD2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2281A>T r.(?) p.(Met761Leu) Unknown - VUS g.47163845T>A g.47122355T>A SETD2(NM_014159.6):c.2281A>T (p.(Met761Leu)) - SETD2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2302G>C r.(?) p.(Val768Leu) Unknown - likely benign g.47163824C>G - SETD2(NM_014159.6):c.2302G>C (p.(Val768Leu)) - SETD2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2309A>G r.(?) p.(Tyr770Cys) Unknown - VUS g.47163817T>C - SETD2(NM_014159.7):c.2309A>G (p.Y770C) - SETD2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2315A>G r.(?) p.(Lys772Arg) Unknown - likely benign g.47163811T>C - SETD2(NM_014159.6):c.2315A>G (p.(Lys772Arg)) - SETD2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2450T>C r.(?) p.(Met817Thr) Unknown - likely benign g.47163676A>G g.47122186A>G SETD2(NM_014159.6):c.2450T>C (p.(Met817Thr)) - SETD2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2474T>A r.(?) p.(Met825Lys) Unknown - VUS g.47163652A>T - SETD2(NM_014159.6):c.2474T>A (p.(Met825Lys)) - SETD2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2543C>T r.(?) p.(Ala848Val) Unknown - likely benign g.47163583G>A g.47122093G>A SETD2(NM_014159.6):c.2543C>T (p.(Ala848Val)) - SETD2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2549A>C r.(?) p.(Glu850Ala) Unknown - VUS g.47163577T>G g.47122087T>G - - SETD2_000034 - Journal: Fischer-Zirnsak 2019 - rs1222926375 Germline - - - - - DNA SEQ, SEQ-NG - WES DD Fam2PatI2 (mother) Journal: Fischer-Zirnsak 2019 2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F - - - - - - - 4 Johan den Dunnen
?/. - c.2569G>A r.(?) p.(Gly857Ser) Unknown - VUS g.47163557C>T - - - SETD2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2603A>G r.(?) p.(Asp868Gly) Unknown - benign g.47163523T>C g.47122033T>C SETD2(NM_014159.6):c.2603A>G (p.D868G, p.(Asp868Gly)) - SETD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2603A>G r.(?) p.(Asp868Gly) Unknown - likely benign g.47163523T>C - SETD2(NM_014159.6):c.2603A>G (p.D868G, p.(Asp868Gly)) - SETD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2704G>C r.(?) p.(Glu902Gln) Unknown - likely benign g.47163422C>G g.47121932C>G SETD2(NM_014159.6):c.2704G>C (p.(Glu902Gln)) - SETD2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2723T>G r.(?) p.(Leu908Arg) Unknown - VUS g.47163403A>C - SETD2(NM_014159.7):c.2723T>G (p.(Leu908Arg)) - SETD2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2723T>G r.(?) p.(Leu908Arg) Unknown - VUS g.47163403A>C - SETD2(NM_014159.7):c.2723T>G (p.(Leu908Arg)) - SETD2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2749dup r.(?) p.(Ser917LysfsTer18) Unknown - likely pathogenic g.47163383dup g.47121893dup - - SETD2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2783C>G r.(?) p.(Thr928Arg) Unknown - benign g.47163343G>C - SETD2(NM_014159.6):c.2783C>G (p.(Thr928Arg)) - SETD2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2785A>T r.(?) p.(Ile929Leu) Unknown - likely benign g.47163341T>A - SETD2(NM_014159.6):c.2785A>T (p.(Ile929Leu)) - SETD2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2785A>T r.(?) p.(Ile929Leu) Unknown - VUS g.47163341T>A - SETD2(NM_014159.6):c.2785A>T (p.(Ile929Leu)) - SETD2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2791G>A r.(?) p.(Glu931Lys) Unknown - likely benign g.47163335C>T - SETD2(NM_014159.7):c.2791G>A (p.E931K) - SETD2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2791G>A r.(?) p.(Glu931Lys) Unknown - VUS g.47163335C>T - - - SETD2_000080 - - - rs368973698 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2798G>T r.(?) p.(Gly933Val) Unknown - likely benign g.47163328C>A g.47121838C>A SETD2(NM_014159.6):c.2798G>T (p.G933V) - SETD2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2813A>G r.(?) p.(Asp938Gly) Unknown - likely benign g.47163313T>C - SETD2(NM_014159.7):c.2813A>G (p.(Asp938Gly)) - SETD2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.2942dup r.(?) p.(Leu981Phefs*3) Unknown ACMG pathogenic (dominant) g.47163186dup g.47121696dup - - SETD2_000088 ACMG: PVS1, PS2_SUP, PM2_SUP, confirmed de novo in trio exome - - - De novo - - - - - DNA SEQ-NG-I Blood - LLS 266625 - - M no Germany - - - - - 1 Andreas Laner
-?/. - c.2982T>A r.(?) p.(Asp994Glu) Unknown - likely benign g.47163144A>T - SETD2(NM_014159.6):c.2982T>A (p.(Asp994Glu)) - SETD2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2988A>G r.(?) p.(Ser996=) Unknown - likely benign g.47163138T>C g.47121648T>C SETD2(NM_014159.6):c.2988A>G (p.S996=) - SETD2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3095C>T r.(?) p.(Ser1032Phe) Unknown - likely benign g.47163031G>A - SETD2(NM_014159.6):c.3095C>T (p.(Ser1032Phe)) - SETD2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3113A>T r.(?) p.(Tyr1038Phe) Unknown - VUS g.47163013T>A - SETD2(NM_014159.7):c.3113A>T (p.(Tyr1038Phe)) - SETD2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3130A>T r.(?) p.(Ser1044Cys) Unknown - VUS g.47162996T>A g.47121506T>A SETD2(NM_014159.6):c.3130A>T (p.S1044C) - SETD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3229A>G r.(?) p.(Thr1077Ala) Unknown - likely benign g.47162897T>C g.47121407T>C SETD2(NM_014159.6):c.3229A>G (p.(Thr1077Ala)), SETD2(NM_014159.7):c.3229A>G (p.T1077A) - SETD2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3229A>G r.(?) p.(Thr1077Ala) Unknown - likely benign g.47162897T>C - SETD2(NM_014159.6):c.3229A>G (p.(Thr1077Ala)), SETD2(NM_014159.7):c.3229A>G (p.T1077A) - SETD2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3240G>A r.(?) p.(Met1080Ile) Parent #1 - VUS g.47162886C>T g.47121396C>T - - SETD2_000044 no interpretation available; 235 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76208147 Germline - 235/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 235 Mohammed Faruq
?/. - c.3240G>A r.(?) p.(Met1080Ile) Both (homozygous) - VUS g.47162886C>T g.47121396C>T - - SETD2_000044 no interpretation available; 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76208147 Germline - 7/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-?/. - c.3422C>T r.(?) p.(Pro1141Leu) Unknown - likely benign g.47162704G>A g.47121214G>A SETD2(NM_014159.6):c.3422C>T (p.P1141L, p.(Pro1141Leu)) - SETD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3422C>T r.(?) p.(Pro1141Leu) Unknown - likely benign g.47162704G>A g.47121214G>A SETD2(NM_014159.6):c.3422C>T (p.P1141L, p.(Pro1141Leu)) - SETD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3422C>T r.(?) p.(Pro1141Leu) Unknown - likely benign g.47162704G>A - SETD2(NM_014159.6):c.3422C>T (p.P1141L, p.(Pro1141Leu)) - SETD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3554A>G r.(?) p.(Asn1185Ser) Unknown - VUS g.47162572T>C - NM_014159:c.A3554G (N1185S) - SETD2_000089 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0048 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
-?/. - c.3567C>T r.(?) p.(Thr1189=) Unknown - likely benign g.47162559G>A g.47121069G>A SETD2(NM_014159.6):c.3567C>T (p.T1189=, p.(Thr1189=)) - SETD2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3567C>T r.(?) p.(Thr1189=) Unknown - benign g.47162559G>A - SETD2(NM_014159.6):c.3567C>T (p.T1189=, p.(Thr1189=)) - SETD2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3595C>A r.(?) p.(Gln1199Lys) Unknown - VUS g.47162531G>T - SETD2(NM_014159.7):c.3595C>A (p.Q1199K) - SETD2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3610A>G r.(?) p.(Ile1204Val) Unknown - likely benign g.47162516T>C - SETD2(NM_014159.6):c.3610A>G (p.(Ile1204Val)) - SETD2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3610A>G r.(?) p.(Ile1204Val) Unknown - likely benign g.47162516T>C - SETD2(NM_014159.6):c.3610A>G (p.(Ile1204Val)) - SETD2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3697A>C r.(?) p.(Thr1233Pro) Unknown - VUS g.47162429T>G - - - SETD2_000068 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.3776G>A r.(?) p.(Gly1259Asp) Unknown ACMG VUS g.47162350C>T g.47120860C>T - - SETD2_000057 - PubMed: Squeo 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1407 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - 1 Johan den Dunnen
?/. - c.3861G>C r.(?) p.(Gln1287His) Unknown - VUS g.47162265C>G - SETD2(NM_014159.6):c.3861G>C (p.(Gln1287His)) - SETD2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3908A>G r.(?) p.(Asn1303Ser) Unknown - likely benign g.47162218T>C - SETD2(NM_014159.6):c.3908A>G (p.(Asn1303Ser)) - SETD2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3908A>G r.(?) p.(Asn1303Ser) Unknown - VUS g.47162218T>C - SETD2(NM_014159.6):c.3908A>G (p.(Asn1303Ser)) - SETD2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3937C>T r.(?) p.(Pro1313Ser) Unknown - likely benign g.47162189G>A - SETD2(NM_014159.6):c.3937C>T (p.(Pro1313Ser)) - SETD2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3943G>C r.(?) p.(Gly1315Arg) Unknown - likely benign g.47162183C>G - - - SETD2_000125 - - - rs2107744841 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3974G>A r.(?) p.(Gly1325Glu) Unknown - VUS g.47162152C>T - SETD2(NM_014159.7):c.3974G>A (p.(Gly1325Glu)) - SETD2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3979G>T r.(?) p.Val1327Leu Unknown ACMG VUS g.47162147C>A g.47120657C>A - - SETD2_000014 - - - rs774042042 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
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