Full data view for gene SETD5

Information The variants shown are described using the NM_001080517.1 transcript reference sequence.

155 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.-176-5313T>C r.(=) p.(=) Unknown - likely benign g.9460838T>C - SETD5(NM_001080517.3):c.-176-5313T>C - SETD5_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(9300000_9350000)_(9550000_9600000)del - - - SETD5_000035 148kb deletion PubMed: Kuechler 2015, Journal: Kuechler 2015 - - Germline/De novo (untested) - - - - - DNA arraySNP - - ID patient 3 PubMed: Kuechler 2015, Journal: Kuechler 2015 - M - - white - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(9350000_9400000)_(9750000_9800000)del - - - SETD5_000035 371kb deletion PubMed: Kuechler 2015, Journal: Kuechler 2015 - - Germline/De novo (untested) - - - - - DNA arraySNP - - ID patient 4 PubMed: Kuechler 2015, Journal: Kuechler 2015 - M - - white - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(8750000_8800000)_(11300000_11350000)del - - - SETD5_000035 2.45Mb deletion PubMed: Kuechler 2015, Journal: Kuechler 2015 - - Germline/De novo (untested) - - - - - DNA arraySNP - - ID patient 5 PubMed: Kuechler 2015, Journal: Kuechler 2015 - F - Iran - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(pter_200000)_(11350000_11400000)del - - - SETD5_000035 11.16Mb deletion PubMed: Kuechler 2015, Journal: Kuechler 2015 - - Germline/De novo (untested) - - - - - DNA arraySNP - - ID patient 6 PubMed: Kuechler 2015, Journal: Kuechler 2015 - F - - white - - - - 1 Johan den Dunnen
?/. - c.94C>G r.(?) p.(Pro32Ala) Unknown - VUS g.9475551C>G - SETD5(NM_001080517.3):c.94C>G (p.P32A) - SETD5_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150G>C r.(?) p.(Arg50Ser) Unknown - likely benign g.9475607G>C - SETD5(NM_001080517.1):c.150G>C (p.(Arg50Ser)) - SETD5_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.160C>T r.(?) p.(Arg54Ter) Unknown - likely pathogenic g.9475617C>T - SETD5(NM_001080517.3):c.160C>T (p.R54*) - SETD5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179C>T r.(?) p.(Thr60Met) Unknown - VUS g.9476019C>T - SETD5(NM_001080517.3):c.179C>T (p.T60M) - SETD5_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245C>T r.(?) p.(Pro82Leu) Unknown - VUS g.9476085C>T - SETD5(NM_001080517.1):c.245C>T (p.(Pro82Leu)) - SETD5_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504A>C r.(?) p.(Lys168Asn) Unknown - likely benign g.9477527A>C - SETD5(NM_001080517.1):c.504A>C (p.(Lys168Asn)) - SETD5_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.523A>G r.(?) p.(Ser175Gly) Parent #1 - VUS g.9477546A>G g.9435862A>G - - SETD5_000034 - PubMed: Kuechler 2015, Journal: Kuechler 2015 - - De novo - - - - - DNA SEQ-NG-I - - ID patient 1 PubMed: Kuechler 2015, Journal: Kuechler 2015 - F no Germany - - - - - 1 Alexander Zink
+/. 7_7i c.547_567+60del r.spl p.? Parent #1 - pathogenic (dominant) g.9477570_9477650del g.9435886_9435966del - - SETD5_000001 - PubMed: Kuechler 2015, Journal: Kuechler 2015 - - De novo yes - - - - DNA SEQ-NG-I - - ID patient 1 PubMed: Kuechler 2015, Journal: Kuechler 2015 - F no Germany - - - - - 1 Alexander Zink
-/. - c.568-31_568dup r.(?) p.(?) Unknown - benign g.9482109_9482140dup - - - SETD5_000090 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.670C>T r.(?) p.(Gln224Ter) Unknown - likely pathogenic (dominant) g.9482242C>T g.9440558C>T - - SETD5_000098 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2764.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.675C>A r.(?) p.(Tyr225Ter) Unknown - likely pathogenic g.9482247C>A g.9440563C>A - - SETD5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.685del r.(?) p.(Val229Tyrfs*22) Unknown - pathogenic g.9482257del - SETD5(NM_001349451.2):c.391delG (p.V131Yfs*22) - SETD5_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.692dup r.(?) p.(Asn231Lysfs*4) Unknown - likely pathogenic g.9482264dup - SETD5(NM_001080517.3):c.692dup (p.(Asn231LysfsTer4)) - SETD5_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.764del r.(?) p.(Lys255Argfs*32) Unknown - likely pathogenic g.9482336del - SETD5(NM_001080517.3):c.764delA (p.K255Rfs*32) - SETD5_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810+4A>G r.spl? p.? Unknown - likely benign g.9482386A>G - SETD5(NM_001080517.3):c.810+4A>G - SETD5_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.814C>T r.(?) p.(Gln272Ter) Unknown - pathogenic g.9483280C>T g.9441596C>T - - SETD5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886A>G r.(?) p.(Thr296Ala) Unknown - likely benign g.9483352A>G - SETD5(NM_001080517.3):c.886A>G (p.(Thr296Ala)) - SETD5_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.892_907del r.(?) p.(Ile298Glyfs*32) Unknown ACMG likely pathogenic (dominant) g.9483358_9483373del g.9441674_9441689del - - SETD5_000062 ACMG PVS1,PM2 PubMed: Anazi 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - clinical WES ID 17DG0774 PubMed: Anazi 2017 familial M - - - - - - - 1 Johan den Dunnen
?/. - c.893T>C r.(?) p.(Ile298Thr) Unknown - VUS g.9483359T>C - - - SETD5_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.922C>T r.(?) p.(Arg308Ter) Unknown - VUS g.9483388C>T g.9441704C>T SETD5(NM_001292043.1):c.628C>T (p.R210*) - SETD5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.934G>T r.(?) p.(Glu312*) Unknown ACMG likely pathogenic g.9483400G>T g.9441716G>T NM_001349451:c.640G>T (Glu214*) - SETD5_000059 ACMG PVS1+PM2 - - - Germline ? - - - - DNA SEQ-NG-I - - DD 160874 - Postaxial hexadactyly of the limbs, mild developmental delay M ? Germany - - - - - 1 Andreas Laner
+/. - c.941A>G r.(?) p.(Asn314Ser) Unknown - pathogenic g.9483407A>G - - - SETD5_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.959+1G>C r.spl? p.? Unknown - likely pathogenic g.9483426G>C - SETD5(NM_001080517.1):c.959+1G>C (p.?) - SETD5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.959+2T>A r.spl? p.? Unknown - likely pathogenic g.9483427T>A g.9441743T>A SETD5(NM_001292043.2):c.665+2T>A - SETD5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.960-5C>G r.960_1077del p.Lys320_Cys396 Unknown - pathogenic (dominant) g.9483807C>G g.9442123C>G - - SETD5_000093 transcripts cycloheximide insensitive PubMed: Bournazos 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA whole blood, peripheral blood mononuclear cells singleton WES ? A025 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - 1 Johan den Dunnen
+?/. 10 c.972del r.(?) p.(Phe324Leufs*11) Unknown ACMG pathogenic (dominant) g.9483824del g.9442140del - - SETD5_000101 ACMG: PVS1, PS2_SUP, PM2_SUP, confirmed de novo - - - De novo - - - - - DNA SEQ-NG-I Blood - MRD23 274684 - - F no Germany - - - - - 1 Andreas Laner
+?/. 10 c.988A>G r.(?) p.(Lys330Glu) Unknown - likely pathogenic (dominant) g.9483840A>G g.9442156A>G - - SETD5_000099 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2186.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.1016A>G r.(?) p.(Asp339Gly) Unknown - likely pathogenic g.9483868A>G - SETD5(NM_001292043.2):c.722A>G (p.D241G) - SETD5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1030G>A r.(?) p.(Gly344Ser) Unknown - likely pathogenic g.9483882G>A g.9442198G>A - - SETD5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1043G>A r.(?) p.(Arg348Gln) Unknown - likely pathogenic g.9483895G>A g.9442211G>A SETD5(NM_001080517.1):c.1043G>A (p.(Arg348Gln)), SETD5(NM_001349451.2):c.749G>A (p.R250Q) - SETD5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1043G>A r.(?) p.(Arg348Gln) Unknown - likely pathogenic g.9483895G>A g.9442211G>A SETD5(NM_001080517.1):c.1043G>A (p.(Arg348Gln)), SETD5(NM_001349451.2):c.749G>A (p.R250Q) - SETD5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1043G>A r.(?) p.(Arg348Gln) Unknown - likely pathogenic g.9483895G>A - SETD5(NM_001080517.1):c.1043G>A (p.(Arg348Gln)), SETD5(NM_001349451.2):c.749G>A (p.R250Q) - SETD5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1052G>A r.(?) p.(Arg351Lys) Unknown - likely pathogenic g.9483904G>A - - - SETD5_000091 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1066C>T r.(?) p.(Pro356Ser) Unknown - VUS g.9483918C>T - SETD5(NM_001080517.3):c.1066C>T (p.P356S) - SETD5_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1077+1del r.spl? p.? Unknown - pathogenic g.9483930del g.9442246del - - SETD5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1125dup r.(?) p.(Val376Cysfs*9) Unknown ACMG pathogenic g.9485039dup g.9443355dup - - SETD5_000003 - - - - De novo yes - - - - DNA SEQ-NG - - ID S_098 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - - - - 1 Bernt Popp
+?/. - c.1195A>T r.(?) p.(Lys399*) Unknown - likely pathogenic (dominant) g.9486739A>T g.9445055A>T - - SETD5_000063 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411029 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1213C>T r.(?) p.(His405Tyr) Unknown - VUS g.9486757C>T - SETD5(NM_001080517.3):c.1213C>T (p.(His405Tyr)) - SETD5_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1250dup r.(?) p.(Asn417Lysfs*3) Unknown - likely pathogenic g.9486794dup - SETD5(NM_001080517.1):c.1250dupA (p.(Asn417fs)) - SETD5_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1304T>C r.(?) p.(Ile435Thr) Unknown - likely benign g.9486848T>C - SETD5(NM_001080517.1):c.1304T>C (p.(Ile435Thr)) - SETD5_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1333C>T r.(?) p.(Arg445*) Unknown - likely pathogenic (dominant) g.9486877C>T g.9445193C>T - - SETD5_000010 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411659 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1333C>T r.(?) p.(Arg445Ter) Unknown - pathogenic g.9486877C>T - - - SETD5_000010 - - - rs886039432 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1336C>T r.(?) p.(Arg446Trp) Unknown - likely benign g.9486880C>T g.9445196C>T SETD5(NM_001080517.1):c.1336C>T (p.(Arg446Trp)) - SETD5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1344G>C r.(?) p.(Glu448Asp) Unknown - VUS g.9486888G>C - SETD5(NM_001080517.3):c.1344G>C (p.(Glu448Asp)) - SETD5_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1361A>G r.(?) p.(Gln454Arg) Unknown - VUS g.9486905A>G - SETD5(NM_001080517.3):c.1361A>G (p.Q454R) - SETD5_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1378G>T r.(?) p.(Glu460Ter) Unknown - likely pathogenic g.9486922G>T g.9445238G>T - - SETD5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1473_1475del r.(?) p.(Glu492del) Unknown - likely benign g.9487373_9487375del - SETD5(NM_001080517.1):c.1473_1475delAGA (p.(Glu492del)) - SETD5_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1535A>T r.(?) p.(Asp512Val) Unknown - VUS g.9488744A>T - SETD5(NM_001080517.3):c.1535A>T (p.D512V) - SETD5_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1551C>G r.(?) p.(Ala517=) Unknown - likely benign g.9488760C>G g.9447076C>G SETD5(NM_001292043.1):c.1257C>G (p.A419=) - SETD5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1589dup r.(?) p.(Arg531Alafs*12) Unknown - pathogenic g.9488798dup - SETD5(NM_001349451.1):c.1295dupA (p.R433Afs*12) - SETD5_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1591C>T r.(?) p.(Arg531Trp) Unknown - VUS g.9488800C>T - SETD5(NM_001080517.1):c.1591C>T (p.(Arg531Trp)), SETD5(NM_001080517.3):c.1591C>T (p.R531W) - SETD5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1591C>T r.(?) p.(Arg531Trp) Unknown - VUS g.9488800C>T - SETD5(NM_001080517.1):c.1591C>T (p.(Arg531Trp)), SETD5(NM_001080517.3):c.1591C>T (p.R531W) - SETD5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1629_1630insACTCT r.(?) p.(Glu544Thrfs*44) Unknown - pathogenic g.9488838_9488839insACTCT - SETD5(NM_001080517.3):c.1629_1630insACTCT (p.E544Tfs*44) - SETD5_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1633_1636del r.(?) p.(Ile545Leufs*40) Unknown - pathogenic g.9488842_9488845del - SETD5(NM_001080517.3):c.1633_1636delATTA (p.I545Lfs*40) - SETD5_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1707C>A r.(?) p.(Asn569Lys) Unknown - VUS g.9488916C>A - SETD5(NM_001080517.3):c.1707C>A (p.N569K) - SETD5_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1709_1710del r.(?) p.(Ser570CysfsTer42) Unknown - likely pathogenic (dominant) g.9488918_9488919del g.9447234_9447235del - - SETD5_000100 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2870.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1715C>A r.(?) p.(Ser572*) Unknown - pathogenic g.9488924C>A - SETD5(NM_001349451.2):c.1421C>A (p.S474*) - SETD5_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1772C>T r.(?) p.(Ser591Phe) Unknown - VUS g.9488981C>T - SETD5(NM_001080517.3):c.1772C>T (p.(Ser591Phe)) - SETD5_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1801C>G r.(?) p.(Leu601Val) Unknown - likely benign g.9489388C>G - SETD5(NM_001080517.1):c.1801C>G (p.(Leu601Val)) - SETD5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1852C>T r.(?) p.(Arg618*) Unknown - pathogenic g.9489439C>T - SETD5(NM_001349451.1):c.1558C>T (p.R520*) - SETD5_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1866C>G r.(?) p.(Tyr622*) Unknown - likely pathogenic (dominant) g.9489453C>G g.9447769C>G - - SETD5_000064 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410802 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1903C>T r.(?) p.(Gln635Ter) Unknown - pathogenic g.9489490C>T g.9447806C>T SETD5(NM_001292043.1):c.1609C>T (p.Q537*) - SETD5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2003C>G r.(?) p.(Ser668*) Maternal (confirmed) ACMG likely pathogenic (dominant) g.9489590C>G - - - SETD5_000078 ACMG: PVS1, PM2-SUP; variant inherited from the affected mother - - - Germline yes - - - - DNA SEQ-NG-I - - MRD23 181846 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.2004_2031dup r.(?) p.(Asp678Argfs*10) Unknown - likely pathogenic g.9489591_9489618dup - - - SETD5_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2139G>T r.(?) p.(Glu713Asp) Unknown - VUS g.9490107G>T g.9448423G>T - - SETD5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2140A>T r.(?) p.(Lys714Ter) Unknown - pathogenic g.9490108A>T g.9448424A>T - - SETD5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2146G>T r.(?) p.(Glu716Ter) Unknown - pathogenic g.9490114G>T g.9448430G>T - - SETD5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2158G>T r.(?) p.(Glu720*) Unknown ACMG pathogenic (dominant) g.9490126G>T - G2158T (E720X) - SETD5_000083 - PubMed: Halvardson 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Fam5 PubMed: Halvardson 2016 - M - Sweden - - - - - 1 Johan den Dunnen
+?/. - c.2177_2178del r.(?) p.(Thr726Asnfs*39) Unknown - likely pathogenic (dominant) g.9490145_9490146del g.9448461_9448462del - - SETD5_000065 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410830 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2216_2217del r.(?) p.(Leu739Serfs*26) Unknown - pathogenic g.9490184_9490185del g.9448500_9448501del - - SETD5_000032 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. 16 c.2231A>G r.? p.(His744Arg) Unknown ACMG likely pathogenic g.9490199A>G g.9448515A>G - - SETD5_000133 - - ClinVar-3780970 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.2246G>T r.(?) p.(Cys749Phe) Unknown - VUS g.9490214G>T - SETD5(NM_001080517.3):c.2246G>T (p.C749F) - SETD5_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2297G>C r.(?) p.(Arg766Thr) Unknown - VUS g.9490265G>C - SETD5(NM_001080517.3):c.2297G>C (p.R766T) - SETD5_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2299C>T r.(?) p.(Arg767Cys) Unknown - VUS g.9490267C>T g.9448583C>T SETD5(NM_001080517.3):c.2299C>T (p.R767C) - SETD5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (dominant) g.9490270C>T g.9448586C>T - - SETD5_000002 - PubMed: Kuechler 2015, Journal: Kuechler 2015 - - De novo - - - - - DNA SEQ-NG-I - - ID patient 2 PubMed: Kuechler 2015, Journal: Kuechler 2015 - F - Germany - - - - - 1 Alexander Zink
+/. - c.2302C>T r.(?) p.(Arg768Ter) Unknown - pathogenic g.9490270C>T g.9448586C>T SETD5(NM_001349451.2):c.2008C>T (p.R670*) - SETD5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2303G>A r.(?) p.(Arg768Gln) Unknown - VUS g.9490271G>A g.9448587G>A SETD5(NM_001292043.1):c.2009G>A (p.R670Q) - SETD5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2330dup r.(?) p.(Ser778GlnfsTer4) Unknown - pathogenic g.9490298dup g.9448614dup SETD5(NM_001292043.2):c.2036dupT (p.S680Qfs*4) - SETD5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2336C>G r.(?) p.(Ser779Cys) Unknown - likely benign g.9490304C>G g.9448620C>G - - SETD5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2346+1G>A r.spl? p.? Unknown - likely pathogenic g.9490315G>A - SETD5(NM_001080517.2):c.2346+1G>A - SETD5_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2346+1G>C r.spl? p.? Unknown - pathogenic g.9490315G>C g.9448631G>C SETD5(NM_001292043.2):c.2052+1G>C - SETD5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2347-8A>G r.(=) p.(=) Unknown - likely benign g.9495415A>G g.9453731A>G SETD5(NM_001080517.1):c.2347-8A>G (p.(=)) - SETD5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2347-7A>G r.(=) p.(=) Unknown - pathogenic g.9495416A>G g.9453732A>G SETD5(NM_001080517.1):c.2347-7A>G (p.(=)), SETD5(NM_001292043.1):c.2053-7A>G - SETD5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2347-7A>G r.(=) p.(=) Unknown - pathogenic g.9495416A>G g.9453732A>G SETD5(NM_001080517.1):c.2347-7A>G (p.(=)), SETD5(NM_001292043.1):c.2053-7A>G - SETD5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2347-7A>G r.(?) p.(?) Unknown - pathogenic g.9495416A>G - - - SETD5_000044 - - - rs886041593 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2347-1G>A r.spl? p.? Unknown - likely pathogenic g.9495422G>A g.9453738G>A SETD5(NM_001292043.1):c.2053-1G>A - SETD5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2347-1G>T r.spl? p.? Unknown - likely pathogenic g.9495422G>T g.9453738G>T - - SETD5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2352G>T r.(?) p.(Trp784Cys) Unknown - likely pathogenic g.9495428G>T g.9453744G>T - - SETD5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2359C>T r.(?) p.(Gln787*) Unknown - pathogenic g.9495435C>T g.9453751C>T - - SETD5_000033 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. 17 c.2383C>T r.(?) p.(Gln795*) Unknown ACMG likely pathogenic (dominant) g.9495459C>T g.9453775C>T - - SETD5_000084 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - MRD23 203952 - - M no Russia - - - - - 1 Andreas Laner
+?/. - c.2416C>T r.(?) p.(Gln806*) Unknown - likely pathogenic g.9495492C>T - - - SETD5_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2437G>A r.(?) p.(Glu813Lys) Unknown - likely benign g.9495513G>A - SETD5(NM_001080517.1):c.2437G>A (p.(Glu813Lys)) - SETD5_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2464A>G r.(?) p.(Lys822Glu) Unknown - VUS g.9495540A>G - SETD5(NM_001080517.3):c.2464A>G (p.K822E) - SETD5_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2471A>G r.(?) p.(Asn824Ser) Unknown - likely benign g.9495547A>G - SETD5(NM_001080517.1):c.2471A>G (p.(Asn824Ser)) - SETD5_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2476+1G>A r.spl p.? Unknown ACMG likely pathogenic (dominant) g.9495553G>A g.9453869G>A - - SETD5_000066 ACMG PVS1,PM6 PubMed: Anazi 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - clinical WES ID 17DG0775 PubMed: Anazi 2017 simplex case F - - - - - - - 1 Johan den Dunnen
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