Unique variants in gene KAT6B

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

52 entries on 1 page. Showing entries 1 - 52.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-615279_*1736057del - r.? p.? g.75971593_78526861del g.74211835_76767103del - - ADK_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/+ 1 3 c.527dup - r.(?) p.(Tyr176*) g.76603142dup g.74843384dup - - KAT6B_000014 - PubMed: Clayton-Smith et al. - - Unknown ? - - - - Philippe Campeau
+/+ 1 3i t(10;13)(q22.3;q34)(c.621+26310_621+26311) - r.0? p.0? t(10;13)(q22.3;q34)(g.76629546_76629547del) - t(10;13)(q22.3;q34)(c.621+26310_c.621+26311) - KAT6B_000021 - PubMed: Kraft M et al. - - Unknown ? - - - - Philippe Campeau
?/. 1 18 c.2959T>C - r.(?) p.(Trp987Arg) g.76780981T>C g.75021223T>C - - KAT6B_000031 - - - - Unknown - - - - - Jill Clayton-Smith
+/+ 1 15 c.3018del - r.(?) p.(Glu1007Argfs*5) g.76781040del g.75021282del - - KAT6B_000008 - PubMed: Clayton-Smith et al. - - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.3040C>T - r.(?) p.(Gln1014*) g.76781657C>T g.75021899C>T - - KAT6B_000030 - - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 16 c.3064G>T - r.(?) p.(Glu1022*) g.76781681G>T g.75021923G>T - - KAT6B_000032 - - - - Unknown - - - - - Jill Clayton-Smith
+?/. 3 16 c.3147G>A - r.(=), r.(spl?) p.(=), p.(?) g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - - - Jill Clayton-Smith
-/. 2 - c.3289_3291del benign r.(?) p.(Glu1104del) g.76781906_76781908del - KAT6B:c.3310_3312delGAA (E1104del) - KAT6B_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
+?/. 1 17 c.3366_3369del - r.(?) p.(Lys1124Glyfs*5) g.76781983_76781986del g.75022225_75022228del - - KAT6B_000033 - - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 17 c.3401_3402del - r.(?) p.(Gly1134Alafs*2) g.76784744_76784745del g.75024986_75024987del - - KAT6B_000025 - - - - Unknown - - - - - Jill Clayton-Smith
+?/. 1 17 c.3598_3622dup25 - r.(?) p.(Gly1208Glufs*19) g.76784941_76784965dup g.75025183_75025207dup25 - - KAT6B_000034 - - - - De novo - - - - - Jill Clayton-Smith
+/+ 1 18 c.3680_3695del - r.(?) p.(Asp1227Glufs*11) g.76788262_76788277del g.75028504_75028519del - - KAT6B_000017 - PubMed: Simpson et al. - - Unknown ? - - - - Philippe Campeau
+?/., +/+ 5 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13) g.76788351_76788354del g.75028593_75028596del c.3769_3772delTCTA - KAT6B_000035, KAT6B_000018, KAT6B_000005 - PubMed: Simpson et al., PubMed: Campeau et al. - - Unknown ? - - - - Jill Clayton-Smith, Philippe Campeau
+/+ 1 18 c.3773dup - r.(?) p.(Trp1259Valfs*12) g.76788355dup g.75028597dup - - KAT6B_000020 - PubMed: Simpson et al. - - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3788_3789del - r.(?) p.(Lys1263Argfs*7) g.76788370_76788371del g.75028612_75028613del c.3788_3789delAA - KAT6B_000006 - PubMed: Campeau et al. - - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3802G>T - r.(?) p.(Gly1268*) g.76788384G>T g.75028626G>T - - KAT6B_000004 - PubMed: Campeau et al. - - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3860_3863del - r.(?) p.(Val1287Glufs*46) g.76788442_76788445del g.75028684_75028687del c.3860_3863delTAAC - KAT6B_000022 - - - - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3877A>T - r.(?) p.(Lys1293*) g.76788459A>T g.75028701A>T - - KAT6B_000019 - PubMed: Simpson et al. - - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3892G>T - r.(?) p.(Gly1298*) g.76788474G>T g.75028716G>T - - KAT6B_000002 - PubMed: Campeau et al. - - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.3962_3963del - r.(?) p.(Gln1321Argfs*20) g.76788544_76788545del g.75028786_75028787del - - KAT6B_000036 - - - - Unknown - - - - - Jill Clayton-Smith
-?/., ?/. 2 - c.4036G>T likely benign, VUS r.(?) p.(Asp1346Tyr) g.76788618G>T - KAT6B:NM_001256468.1:c.3487G>T, NM_001256469.1:c.3160G>T, … - KAT6B_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 18 c.4069G>T - r.(?) p.(Glu1357*) g.76788651G>T g.75028893G>T - - KAT6B_000009 - PubMed: Clayton-Smith et al. - - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.4074_4079del - r.(?) p.(Glu1367_Glu1368del) g.76788656_76788661del g.75028898_75028903del - - KAT6B_000037 - - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 - c.4096G>T ACMG 4 r.(?) p.(Glu1366*) g.76788678G>T g.75028920G>T - - KAT6B_000051 - Trujillano et al., submitted - - De novo - - - - - Daniel Trujillano
+?/. 1 18 c.4114G>T - r.(?) p.(Glu1372*) g.76788696G>T g.75028938G>T - - KAT6B_000038 - - - - De novo - - - - - Jill Clayton-Smith
+?/., +/+ 5 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - PubMed: Clayton-Smith et al. - - De novo, Unknown ? - - - - Jill Clayton-Smith, Philippe Campeau
+?/. 1 18 c.4312del - r.(?) p.(Glu1438Lysfs*23) g.76788894del g.75029136del - - KAT6B_000039 - - - - Unknown - - - - - Jill Clayton-Smith
+?/. 1 18 c.4320_4321del - r.(?) p.(Lys1441Glyfs*22) g.76788902_76788903del g.75029144_75029145del - - KAT6B_000040 - - - - De novo - - - - - Jill Clayton-Smith
+/+ 1 18 c.4360_4368delinsAAAAACCAAAA - r.(?) p.(Glu1454Lysfs*8) g.76788942_76788950delinsAAAAACCAAAA g.75029184_75029192delinsAAAAACCAAAA - - KAT6B_000003 - PubMed: Campeau et al. - - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.4405dup - r.(?) p.(Ser1469Phefs*18) g.76788987dup g.75029229dup - - KAT6B_000001 - PubMed: Clayton-Smith et al. - - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.4728_4729del - r.(?) p.(Arg1577Cysfs*21) g.76789310_76789311del g.75029552_75029553del - - KAT6B_000041 - - - - De novo - - - - - Jill Clayton-Smith
-?/. 2 - c.4835G>A likely benign r.(?) p.(Arg1612His) g.76789417G>A - KAT6B:NM_012330.3:c.4835G>A (Arg1612His), 1 more item - KAT6B_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Leiden
+?/., +/+ 2 18 c.4911_4921del - r.(?) p.(Val1638Alafs*27) g.76789493_76789503del g.75029735_75029745del - - KAT6B_000015 - PubMed: Clayton-Smith et al. - - De novo, Unknown ? - - - - Jill Clayton-Smith, Philippe Campeau
./. 1 - c.5015G>C - r.(?) p.(Ser1672Thr) g.76789597G>C g.75029839G>C - - KAT6B_000050 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/+ 1 18 c.5030del - r.(?) p.(Thr1677Metfs*38) g.76789612del g.75029854del - - KAT6B_000012 - PubMed: Clayton-Smith et al. - - Unknown ? - - - - Philippe Campeau
./. 1 - c.5041G>A - r.(?) p.(Glu1681Lys) g.76789623G>A g.75029865G>A - - KAT6B_000048 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/+ 1 18 c.5064_5071delinsCACA - r.(?) p.(Met1690Glufs*24) g.76789646_76789653delinsCACA g.75029888_75029895delinsCACA c.5064_5071delTACTATGGinsCACA - KAT6B_000024 - Szakszon et al, AJMG 2013 - - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.5115_5116del - r.(?) p.(Tyr1706*) g.76789697_76789698del g.75029939_75029940del - - KAT6B_000029 - - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 18 c.5131del - r.(?) p.(Ser1711Profs*4) g.76789713del g.75029955del - - KAT6B_000042 - - - - Unknown - - - - - Jill Clayton-Smith
+/+ 2 18 c.5201_5210dup - r.(?) p.(Gln1737Hisfs*41) g.76789783_76789792dup g.75030025_75030034dup - - KAT6B_000013 - PubMed: Clayton-Smith et al. - - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.5209C>T - r.(?) p.(Gln1737*) g.76789791C>T g.75030033C>T - - KAT6B_000027 - - - - De novo - - - - - Jill Clayton-Smith
+?/. 3 18 c.5302C>T - r.(?) p.(Gln1768*) g.76789884C>T g.75030126C>T g.76789884C>T - KAT6B_000043 - - - - Unknown, De novo - - - - - Jill Clayton-Smith
+/+ 1 18 c.5370_5373dup - r.(?) p.(Ile1792Glnfs*12) g.76789952_76789955dup g.75030194_75030197dup - - KAT6B_000007 - PubMed: Clayton-Smith et al. - - Unknown ? - - - - Philippe Campeau
+?/., +/+ 5 18 c.5389C>T - r.(?) p.(Arg1797*) g.76789971C>T g.75030213C>T - - KAT6B_000016, KAT6B_000045 - PubMed: Clayton-Smith et al. - - Unknown ? - - - - Jill Clayton-Smith, Philippe Campeau
+?/. 1 18 c.5424C>A - r.(?) p.(Tyr1808*) g.76790006C>A g.75030248C>A - - KAT6B_000044 - - - - Unknown ? - - - - Jill Clayton-Smith
+?/. 1 18 c.5442_5445del - r.(?) p.(Phe1815Alafs*8) g.76790024_76790027del g.75030266_75030269del - - KAT6B_000028 - - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 18 c.5624_5625del - r.(?) p.(Gln1875Argfs*170) g.76790206_76790207del g.75030448_75030449del - - KAT6B_000046 - - - - Unknown - - - - - Jill Clayton-Smith
+?/. 1 18 c. 5731C>T - r.(?) p.(Gln1911*) g.76790313C>T g.75030555C>T - - KAT6B_000047 - - - - Unknown - - - - - Jill Clayton-Smith
+/+ 1 18 c.5734A>T - r.(?) p.(Arg1912*) g.76790316A>T g.75030558A>T - - KAT6B_000011 - PubMed: Clayton-Smith et al. - - Unknown ? - - - - Philippe Campeau
+?/+? 1 18 c.5746C>T - r.(?) p.(Gln1916*) g.76790328C>T g.75030570C>T - - KAT6B_000023 - - - - Unknown ? - - - - Philippe Campeau
./. 1 - c.5873delinsC - r.(=) p.(=) g.76790455_76790455delCTinsC g.75030697delinsC - - KAT6B_000049 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
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