Full data view for gene SETD1B

Information The variants shown are described using the NM_015048.1 transcript reference sequence.

206 entries on 3 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.17C>A r.(?) p.(Pro6His) Unknown - likely benign g.122242660C>A - SETD1B(NM_001353345.2):c.17C>A (p.P6H, p.(Pro6His)) - SETD1B_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17C>A r.(?) p.(Pro6His) Unknown - likely benign g.122242660C>A - SETD1B(NM_001353345.2):c.17C>A (p.P6H, p.(Pro6His)) - SETD1B_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17C>T r.(?) p.(Pro6Leu) Unknown - likely benign g.122242660C>T - SETD1B(NM_015048.1):c.17C>T (p.(Pro6Leu)) - SETD1B_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23A>C r.(?) p.(His8Pro) Unknown - likely benign g.122242666A>C - SETD1B(NM_001353345.2):c.23A>C (p.H8P), SETD1B(NM_015048.1):c.23A>C (p.(His8Pro)) - SETD1B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23A>C r.(?) p.(His8Pro) Unknown - likely benign g.122242666A>C - SETD1B(NM_001353345.2):c.23A>C (p.H8P), SETD1B(NM_015048.1):c.23A>C (p.(His8Pro)) - SETD1B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23del r.(?) p.(His8Profs*27) Unknown - likely benign g.122242666del - SETD1B(NM_001353345.2):c.23del (p.(His8ProfsTer27)) - SETD1B_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30C>A r.(?) p.(His10Gln) Unknown - likely benign g.122242673C>A g.121804767C>A SETD1B(NM_001353345.1):c.30C>A (p.H10Q) - SETD1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.138A>T r.(?) p.(Lys46Asn) Unknown - VUS g.122242781A>T - SETD1B(NM_001353345.2):c.138A>T (p.K46N) - SETD1B_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175-6C>T r.(=) p.(=) Unknown - likely benign g.122243018C>T - SETD1B(NM_001353345.2):c.175-6C>T - SETD1B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175-6C>T r.(=) p.(=) Unknown - likely benign g.122243018C>T - SETD1B(NM_001353345.2):c.175-6C>T - SETD1B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225G>A r.(?) p.(=) Unknown - likely benign g.122243074G>A - SETD1B(NM_001353345.2):c.225G>A (p.G75=) - SETD1B_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+5G>A r.spl? p.? Unknown - likely benign g.122243127G>A - SETD1B(NM_001353345.2):c.273+5G>A - SETD1B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+5G>A r.spl? p.? Unknown - likely benign g.122243127G>A - SETD1B(NM_001353345.2):c.273+5G>A - SETD1B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+5G>A r.spl? p.? Unknown - likely benign g.122243127G>A - SETD1B(NM_001353345.2):c.273+5G>A - SETD1B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282G>C r.(?) p.(Glu94Asp) Unknown - VUS g.122243749G>C g.121805843G>C SETD1B(NM_015048.1):c.282G>C (p.(Glu94Asp)) - SETD1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.285_286del r.(?) p.(Phe95LeufsTer17) Unknown - VUS g.122243752_122243753del g.121805846_121805847del SETD1B(NM_001353345.1):c.285_286delCT (p.F95Lfs*17) - SETD1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.317C>T r.(?) p.(Thr106Ile) Unknown - VUS g.122243784C>T g.121805878C>T - - SETD1B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362_363insTGT r.(?) p.(Asp121_Met122insVal) Unknown - VUS g.122243829_122243830insTGT g.121805923_121805924insTGT SETD1B(NM_001353345.1):c.362_363insTGT (p.D121_M122insV) - SETD1B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.571C>T r.(?) p.(=) Unknown - likely benign g.122246140C>T - SETD1B(NM_001353345.2):c.571C>T (p.L191=) - SETD1B_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>T r.(?) p.(=) Unknown - likely benign g.122246193C>T - SETD1B(NM_001353345.2):c.624C>T (p.D208=) - SETD1B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.637A>G r.(?) p.(Ile213Val) Unknown - likely benign g.122246206A>G - SETD1B(NM_001353345.2):c.637A>G (p.I213V) - SETD1B_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657+14C>T r.(=) p.(=) Unknown - likely benign g.122246240C>T - SETD1B(NM_001353345.2):c.657+14C>T - SETD1B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690A>G r.(?) p.(=) Unknown - likely benign g.122247541A>G - SETD1B(NM_001353345.2):c.690A>G (p.G230=) - SETD1B_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.887C>T r.(?) p.(Pro296Leu) Unknown - VUS g.122247738C>T - SETD1B(NM_001353345.1):c.887C>T (p.P296L) - SETD1B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892T>A r.(?) p.(Tyr298Asn) Unknown - VUS g.122247743T>A - SETD1B(NM_001353345.2):c.892T>A (p.Y298N) - SETD1B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900C>A r.(?) p.(Phe300Leu) Unknown - likely benign g.122247751C>A - SETD1B(NM_015048.1):c.900C>A (p.(Phe300Leu)) - SETD1B_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.922T>C r.(?) p.(Phe308Leu) Unknown - likely benign g.122247773T>C - SETD1B(NM_001353345.2):c.922T>C (p.(Phe308Leu)) - SETD1B_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.931C>T r.(?) p.(Arg311Trp) Unknown - likely benign g.122247782C>T - SETD1B(NM_001353345.2):c.931C>T (p.(Arg311Trp)) - SETD1B_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.957C>T r.(?) p.(=) Unknown - likely benign g.122247808C>T - SETD1B(NM_001353345.2):c.957C>T (p.D319=) - SETD1B_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960C>A r.(?) p.(=) Unknown - likely benign g.122247811C>A - SETD1B(NM_001353345.2):c.960C>A (p.A320=) - SETD1B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.970C>T r.(?) p.(Arg324Cys) Unknown - VUS g.122247821C>T - SETD1B(NM_001353345.1):c.970C>T (p.R324C) - SETD1B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1013C>T r.(?) p.(Ala338Val) Unknown - likely benign g.122247864C>T - SETD1B(NM_001353345.2):c.1013C>T (p.A338V) - SETD1B_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1015G>C r.(?) p.(Val339Leu) Unknown - likely benign g.122247866G>C - SETD1B(NM_001353345.2):c.1015G>C (p.V339L) - SETD1B_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1023G>A r.(?) p.(=) Unknown - benign g.122247874G>A - SETD1B(NM_001353345.2):c.1023G>A (p.G341=) - SETD1B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1058C>T r.(?) p.(Pro353Leu) Unknown - likely benign g.122247909C>T - SETD1B(NM_001353345.2):c.1058C>T (p.P353L) - SETD1B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1100C>T r.(?) p.(Pro367Leu) Unknown - likely benign g.122247951C>T - SETD1B(NM_001353345.2):c.1100C>T (p.P367L), SETD1B(NM_015048.1):c.1100C>T (p.(Pro367Leu)) - SETD1B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1100C>T r.(?) p.(Pro367Leu) Paternal (confirmed) ACMG benign g.122247951C>T g.121810045C>T - - SETD1B_000019 possible causative variant identified in ATRX PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-/. - c.1100C>T r.(?) p.(Pro367Leu) Both (homozygous) ACMG benign g.122247951C>T g.121810045C>T - - SETD1B_000019 causative variant identified in CASK PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-/. - c.1100C>T r.(?) p.(Pro367Leu) Maternal (confirmed) ACMG benign g.122247951C>T g.121810045C>T - - SETD1B_000019 possible causative variant identified in MID1 PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.1100C>T r.(?) p.(Pro367Leu) Unknown - likely benign g.122247951C>T - SETD1B(NM_001353345.2):c.1100C>T (p.P367L), SETD1B(NM_015048.1):c.1100C>T (p.(Pro367Leu)) - SETD1B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1100C>T r.(?) p.(Pro367Leu) Unknown - likely benign g.122247951C>T - SETD1B(NM_001353345.2):c.1100C>T (p.P367L), SETD1B(NM_015048.1):c.1100C>T (p.(Pro367Leu)) - SETD1B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1152C>T r.(?) p.(=) Unknown - likely benign g.122248003C>T - SETD1B(NM_001353345.2):c.1152C>T (p.P384=) - SETD1B_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1232C>T r.(?) p.(Pro411Leu) Unknown - likely benign g.122248083C>T - SETD1B(NM_001353345.2):c.1232C>T (p.P411L) - SETD1B_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1263G>A r.(?) p.(=) Unknown - benign g.122248114G>A - SETD1B(NM_001353345.2):c.1263G>A (p.G421=) - SETD1B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1267C>T r.(?) p.(Arg423Cys) Unknown - likely benign g.122248118C>T - SETD1B(NM_001353345.2):c.1267C>T (p.(Arg423Cys)) - SETD1B_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282T>C r.(?) p.(Phe428Leu) Unknown - VUS g.122248133T>C - SETD1B(NM_001353345.1):c.1282T>C (p.F428L), SETD1B(NM_001353345.2):c.1282T>C (p.(Phe428Leu), p.F428L) - SETD1B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282T>C r.(?) p.(Phe428Leu) Unknown - likely benign g.122248133T>C - SETD1B(NM_001353345.1):c.1282T>C (p.F428L), SETD1B(NM_001353345.2):c.1282T>C (p.(Phe428Leu), p.F428L) - SETD1B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282T>C r.(?) p.(Phe428Leu) Unknown - VUS g.122248133T>C - SETD1B(NM_001353345.1):c.1282T>C (p.F428L), SETD1B(NM_001353345.2):c.1282T>C (p.(Phe428Leu), p.F428L) - SETD1B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286G>A r.(?) p.(Arg429Gln) Maternal (confirmed) ACMG VUS g.122248137G>A g.121810231G>A - - SETD1B_000021 possible causative variant identified in HNRNPD PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.1295C>T r.(?) p.(Pro432Leu) Unknown - likely benign g.122248146C>T - SETD1B(NM_001353345.2):c.1295C>T (p.P432L) - SETD1B_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1298C>T r.(?) p.(Ala433Val) Unknown - VUS g.122248149C>T - SETD1B(NM_001353345.2):c.1298C>T (p.(Ala433Val)) - SETD1B_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1341G>A r.(?) p.(=) Unknown - likely benign g.122248192G>A - SETD1B(NM_001353345.2):c.1341G>A (p.K447=) - SETD1B_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1356C>T r.(?) p.(=) Unknown - likely benign g.122248207C>T - SETD1B(NM_001353345.2):c.1356C>T (p.P452=) - SETD1B_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1371C>T r.(?) p.(=) Unknown - benign g.122248222C>T - SETD1B(NM_001353345.2):c.1371C>T (p.P457=) - SETD1B_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1372G>A r.(?) p.(Asp458Asn) Unknown - likely benign g.122248223G>A - SETD1B(NM_001353345.2):c.1372G>A (p.D458N) - SETD1B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1400G>A r.(?) p.(Arg467Gln) Unknown - likely benign g.122248251G>A - SETD1B(NM_015048.1):c.1400G>A (p.(Arg467Gln)) - SETD1B_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1445C>T r.(?) p.(Thr482Met) Unknown - likely benign g.122248296C>T - SETD1B(NM_001353345.2):c.1445C>T (p.T482M) - SETD1B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1478A>G r.(?) p.(Glu493Gly) Paternal (confirmed) ACMG VUS g.122248329A>G g.121810423A>G - - SETD1B_000022 possible causative variant identified in HNRNPD PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-/. - c.1478A>G r.(?) p.(Glu493Gly) Unknown - benign g.122248329A>G - SETD1B(NM_001353345.2):c.1478A>G (p.E493G, p.(Glu493Gly)) - SETD1B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1478A>G r.(?) p.(Glu493Gly) Unknown - likely benign g.122248329A>G - SETD1B(NM_001353345.2):c.1478A>G (p.E493G, p.(Glu493Gly)) - SETD1B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1489G>C r.(?) p.(Asp497His) Unknown - VUS g.122248340G>C - SETD1B(NM_001353345.2):c.1489G>C (p.D497H) - SETD1B_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1532G>A r.(?) p.(Arg511His) Unknown - VUS g.122248383G>A - SETD1B(NM_015048.1):c.1532G>A (p.(Arg511His)) - SETD1B_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1633C>T r.(?) p.(Pro545Ser) Both (homozygous) - VUS g.122248484C>T - chr12:120732867C>T - SETD1B_000038 - PubMed: Najmabadi 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 8401214 PubMed: Najmabadi 2011 family, 3 affected - yes Iran - - - - - 3 Johan den Dunnen
?/. - c.1654C>T r.(?) p.(Pro552Ser) Maternal (confirmed) ACMG VUS g.122248505C>T g.121810599C>T - - SETD1B_000023 possible causative variant identified in ATRX PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.1654C>T r.(?) p.(Pro552Ser) Unknown - likely benign g.122248505C>T - SETD1B(NM_001353345.2):c.1654C>T (p.P552S, p.(Pro552Ser)) - SETD1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1654C>T r.(?) p.(Pro552Ser) Unknown - likely benign g.122248505C>T - SETD1B(NM_001353345.2):c.1654C>T (p.P552S, p.(Pro552Ser)) - SETD1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1654C>T r.(?) p.(Pro552Ser) Unknown - likely benign g.122248505C>T - SETD1B(NM_001353345.2):c.1654C>T (p.P552S, p.(Pro552Ser)) - SETD1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1744G>A r.(?) p.(Glu582Lys) Unknown - VUS g.122248595G>A - SETD1B(NM_001353345.1):c.1744G>A (p.E582K) - SETD1B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1749C>T r.(?) p.(=) Unknown - likely benign g.122248600C>T - SETD1B(NM_001353345.2):c.1749C>T (p.D583=) - SETD1B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1797C>T r.(?) p.(=) Unknown - likely benign g.122248648C>T - SETD1B(NM_001353345.2):c.1797C>T (p.G599=) - SETD1B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1803G>A r.(?) p.(=) Unknown - likely benign g.122248654G>A - SETD1B(NM_001353345.2):c.1803G>A (p.P601=) - SETD1B_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1939C>A r.(?) p.(Pro647Thr) Unknown - likely benign g.122252060C>A - SETD1B(NM_001353345.2):c.1939C>A (p.(Pro647Thr)) - SETD1B_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1943C>T r.(?) p.(Ser648Leu) Unknown - likely benign g.122252064C>T - SETD1B(NM_001353345.2):c.1943C>T (p.S648L) - SETD1B_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2005G>A r.(?) p.(Val669Met) Unknown - likely benign g.122252126G>A - SETD1B(NM_015048.1):c.2005G>A (p.(Val669Met)) - SETD1B_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2078dup r.(?) p.(Pro694Thrfs*148) Unknown - likely pathogenic g.122252199dup - SETD1B(NM_001353345.2):c.2078dupC (p.P694Tfs*148) - SETD1B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2079A>C r.(?) p.(=) Unknown - benign g.122252200A>C - SETD1B(NM_001353345.2):c.2079A>C (p.P693=) - SETD1B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2088A>C r.(?) p.(=) Unknown - likely benign g.122252209A>C - SETD1B(NM_001353345.2):c.2088A>C (p.P696=) - SETD1B_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2088_2090del r.(?) p.(Pro699del) Unknown - likely benign g.122252209_122252211del - SETD1B(NM_001353345.2):c.2088_2090delACC (p.P699del) - SETD1B_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2124G>A r.(?) p.(=) Unknown - likely benign g.122252245G>A - SETD1B(NM_001353345.2):c.2124G>A (p.P708=) - SETD1B_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2199G>A r.(?) p.(=) Unknown - benign g.122252320G>A - SETD1B(NM_001353345.2):c.2199G>A (p.P733=) - SETD1B_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2222T>A r.(?) p.(Ile741Asn) Unknown - VUS g.122252343T>A g.121814437T>A SETD1B(NM_001353345.1):c.2222T>A (p.I741N) - SETD1B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2293G>A r.(?) p.(Gly765Ser) Unknown - VUS g.122252414G>A - SETD1B(NM_001353345.2):c.2293G>A (p.(Gly765Ser)) - SETD1B_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2308G>A r.(?) p.(Gly770Ser) Unknown - VUS g.122252429G>A - SETD1B(NM_001353345.2):c.2308G>A (p.(Gly770Ser)) - SETD1B_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2371G>T r.(?) p.(Ala791Ser) Unknown - VUS g.122252492G>T - SETD1B(NM_015048.1):c.2371G>T (p.(Ala791Ser)) - SETD1B_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2378C>G r.(?) p.(Pro793Arg) Unknown ACMG VUS g.122252499C>G g.121814593C>G - - SETD1B_000024 possible causative variant identified in NOTCH2, COMP PubMed: Faundes 2018 - - De novo - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.2402C>T r.(?) p.(Ala801Val) Unknown - likely benign g.122252523C>T - SETD1B(NM_001353345.2):c.2402C>T (p.A801V), SETD1B(NM_015048.1):c.2402C>T (p.(Ala801Val)) - SETD1B_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2402C>T r.(?) p.(Ala801Val) Unknown - likely benign g.122252523C>T - SETD1B(NM_001353345.2):c.2402C>T (p.A801V), SETD1B(NM_015048.1):c.2402C>T (p.(Ala801Val)) - SETD1B_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2403G>A r.(?) p.(=) Unknown - likely benign g.122252524G>A - SETD1B(NM_001353345.2):c.2403G>A (p.A801=) - SETD1B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2444C>A r.(?) p.(Pro815Gln) Paternal (confirmed) ACMG VUS g.122252565C>A g.121814659C>A - - SETD1B_000025 no possible causative variants identified in other genes PubMed: Faundes 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES ? - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. - c.2453G>A r.(?) p.(Arg818Gln) Unknown - likely benign g.122252574G>A - SETD1B(NM_001353345.2):c.2453G>A (p.(Arg818Gln)) - SETD1B_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2526G>A r.(?) p.(=) Unknown - likely benign g.122252647G>A - SETD1B(NM_001353345.2):c.2526G>A (p.P842=) - SETD1B_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2560G>A r.(?) p.(Glu854Lys) Unknown - VUS g.122252681G>A - SETD1B(NM_001353345.2):c.2560G>A (p.E854K) - SETD1B_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2672G>C r.(?) p.(Arg891Pro) Unknown - likely benign g.122252793G>C - SETD1B(NM_001353345.2):c.2672G>C (p.R891P) - SETD1B_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2705G>A r.(?) p.(Arg902Gln) Unknown - likely benign g.122252826G>A - SETD1B(NM_001353345.2):c.2705G>A (p.(Arg902Gln)) - SETD1B_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2721G>T r.(?) p.(=) Unknown - likely benign g.122254944G>T - SETD1B(NM_001353345.2):c.2721G>T (p.S907=) - SETD1B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2730G>A r.(?) p.(Pro910=) Unknown - VUS g.122254953G>A g.121817047G>A SETD1B(NM_001353345.1):c.2730G>A (p.P910=) - SETD1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2731G>T r.(?) p.(Val911Leu) Unknown - likely benign g.122254954G>T - SETD1B(NM_001353345.2):c.2731G>T (p.(Val911Leu)) - SETD1B_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2754C>T r.(?) p.(=) Unknown - likely benign g.122254977C>T - SETD1B(NM_001353345.2):c.2754C>T (p.D918=) - SETD1B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2760C>G r.(?) p.(Asp920Glu) Unknown - likely benign g.122254983C>G - SETD1B(NM_001353345.2):c.2760C>G (p.D920E) - SETD1B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2760C>G r.(?) p.(Asp920Glu) Unknown - likely benign g.122254983C>G - SETD1B(NM_001353345.2):c.2760C>G (p.D920E) - SETD1B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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