Full data view for gene KAT6B

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

138 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-615279_*1736057del - r.? p.? Unknown g.75971593_78526861del g.74211835_76767103del - - ADK_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.262T>G likely benign r.(?) p.(Phe88Val) Unknown g.76602877T>G - KAT6B:NM_001256468.1:c.262T>G, NM_001256469.1:c.262T>G, … - KAT6B_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.375C>T likely benign r.(=) p.(=) Unknown g.76602990C>T - KAT6B:NM_012330.3:c.375C>T (=) - KAT6B_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.527dup - r.(?) p.(Tyr176*) Unknown g.76603142dup g.74843384dup - - KAT6B_000014 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - DNA SEQ - - SBBYSS - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 3i t(10;13)(q22.3;q34)(c.621+26310_621+26311) - r.0? p.0? Unknown 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 ? - - 0 - DNA SEQ - - NS - PubMed: Kraft M et al. - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
?/. - c.928G>C VUS r.(?) p.(Gly310Arg) Unknown g.76729859G>C - KAT6B:NM_012330.3:c.928G>C (?) - KAT6B_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.929-12A>G benign r.(=) p.(=) Unknown g.76732253A>G - KAT6B:NM_012330.2:c.929-12A>G (?) - KAT6B_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1006C>T pathogenic r.(?) p.(Arg336*) Unknown g.76732342C>T - KAT6B:c.1006C>T (R336*) - KAT6B_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1009C>T pathogenic r.(?) p.(Arg337*) Unknown g.76732345C>T - KAT6B:NM_012330.3:c.1009C>T (Arg337*) - KAT6B_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1030C>T likely pathogenic r.(?) p.(Arg344*) Unknown g.76732366C>T - KAT6B:NM_012330.3:c.1030C>T (Arg344*) - KAT6B_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1045_1049delTTAAA - r.(?) p.(Leu349Alafs*9) Unknown g.76732381_76732385delTTAAA - - - KAT6B_000104 - PubMed: [Marangi 2017] - - De novo - - - 0 - DNA SEQ-NG - - - - PubMed: [Marangi 2017] - F - - - - 0 - - 1 Philippe Campeau
-?/. - c.1123G>A likely benign r.(?) p.(Gly375Ser) Unknown g.76735218G>A - KAT6B:NM_001256468.1:c.1123G>A, NM_001256469.1:c.1117+6G>A, … - KAT6B_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1282A>C likely benign r.(?) p.(Asn428His) Unknown g.76735377A>C - KAT6B:c.1282A>C (N428H) - KAT6B_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1439C>T likely benign r.(?) p.(Ala480Val) Unknown g.76735534C>T - KAT6B:NM_001256468.1:c.1439C>T, NM_012330.3:c.1439C>T - KAT6B_000056 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1468C>T likely benign r.(?) p.(Pro490Ser) Unknown g.76735563C>T - KAT6B:NM_012330.3:c.1468C>T - KAT6B_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2299C>T - r.(?) p.(His767Tyr) Unknown g.76741612C>T - missense variant c.2292C>T p.(His767Tyr) - KAT6B_000103 Mutation inherited from father PubMed: [Kim 2017] - - Not applicable - - - 0 - DNA SEQ - - - Daughter in report PubMed: [Kim 2017] - F no - - - 0 - - 1 Philippe Campeau
+?/. - c.2299C>T - r.(?) p.(His767Tyr) Unknown g.76741612C>T - missense variant c.2292C>T p.(His767Tyr) - KAT6B_000103 - PubMed: [Kim 2017] - - Not applicable - - - 0 - DNA SEQ - - - Father in report PubMed: [Kim 2017] - M - - - - 0 - - 1 Philippe Campeau
+?/. - c.2299C>T - r.(?) p.(His767Tyr) Unknown g.76741612C>T - missense variant c.2292C>T p.(His767Tyr) - KAT6B_000103 - PubMed: [Kim 2017] - - Not applicable - - - 0 - DNA SEQ - - - Uncle in report PubMed: [Kim 2017] - M - - - - 0 - - 1 Philippe Campeau
+/. - c.2347C>T pathogenic r.(?) p.(Arg783*) Unknown g.76741660C>T - KAT6B:NM_012330.3:c.2347C>T (Arg783*) - KAT6B_000083 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2489del pathogenic r.(?) p.(Thr830Lysfs*29) Unknown g.76744953del - KAT6B:NM_012330.3:c.2489del (Thr830fs) - KAT6B_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2542C>T VUS r.(?) p.(Leu848Phe) Unknown g.76748783C>T - KAT6B:c.2542C>T (L848F) - KAT6B_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2636T>A - r.(?) p.(Leu879*) Unknown g.76780346T>A - - - KAT6B_000100 - PubMed: Li 2017 - - De novo - - - 0 - DNA SEQ - - SBBYSS - PubMed: Li 2017 - M yes - - - 0 - - 1 Philippe Campeau
?/. - c.2920T>C VUS r.(?) p.(Cys974Arg) Unknown g.76780942T>C - KAT6B:c.2920T>C (C974R) - KAT6B_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 18 c.2959T>C - r.(?) p.(Trp987Arg) Unknown g.76780981T>C g.75021223T>C - - KAT6B_000031 - - - - Unknown - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 15 c.3018del - r.(?) p.(Glu1007Argfs*5) Unknown g.76781040del g.75021282del - - KAT6B_000008 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - DNA SEQ - - SBBYSS - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - 1 Philippe Campeau
-?/. - c.3021+3A>G likely benign r.spl? p.? Unknown g.76781046A>G - KAT6B:NM_012330.3:c.3021+3A>G - KAT6B_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 18 c.3040C>T - r.(?) p.(Gln1014*) Unknown g.76781657C>T g.75021899C>T - - KAT6B_000030 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - F - - - - 0 - - 1 Jill Clayton-Smith
+?/. 16 c.3064G>T - r.(?) p.(Glu1022*) Unknown g.76781681G>T g.75021923G>T - - KAT6B_000032 - - - - Unknown - - - 0 - DNA SEQ - - SBBYSS - - - F - - - - 0 - - 1 Jill Clayton-Smith
+?/. 16 c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - M - - - - 0 - - 1 Jill Clayton-Smith
+?/. 16 c.3147G>A - r.(spl?) p.(?) Unknown g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - M - - - - 0 - - 1 Jill Clayton-Smith
+?/. 16 c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - F no United Kingdom (Great Britain) - - 0 - - 1 Jill Clayton-Smith
+?/. - c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A - c.3147G>A, p.(Pro1049Pro) - KAT6B_000026 - PubMed: [Yilmaz 2015] - - De novo - - - 0 - DNA PCR - - - Patient 1 in report PubMed: [1] - F no - - - 0 - - 1 Philippe Campeau
+?/. - c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A - c.3147G>A, p.(Pro1050Pro) - KAT6B_000026 - PubMed: [Yilmaz 2015] - - De novo - - - 0 - DNA PCR - - - Patient 2 in report PubMed: [Yilmaz 2015] - F yes - - - 0 - - 1 Philippe Campeau
+?/. - c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A - c.3147G>A, p.(Pro1051Pro) - KAT6B_000026 - PubMed: [Yilmaz 2015] - - De novo - - - 0 - DNA PCR - - - Patient 3 in report PubMed: [Yilmaz 2015] - F no - - - 0 - - 1 Philippe Campeau
+/. - c.3172C>T pathogenic r.(?) p.(Arg1058*) Unknown g.76781789C>T - KAT6B:NM_012330.3:c.3172C>T (Arg1058*) - KAT6B_000086 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3220_3231del likely benign r.(?) p.(Asp1077_Glu1080del) Unknown g.76781837_76781848del - KAT6B:c.3231_3242delCGAGGAGGAGGA (D1077_E1080del) - KAT6B_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3241G>T pathogenic r.(?) p.(Glu1081*) Unknown g.76781858G>T - KAT6B:NM_012330.3:c.3241G>T (Glu1081*) - KAT6B_000087 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3258del pathogenic r.(?) p.(Glu1087Argfs*27) Unknown g.76781875del - KAT6B:NM_012330.3:c.3258del (Glu1087fs) - KAT6B_000088 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3289_3291del benign r.(?) p.(Glu1104del) Unknown g.76781906_76781908del - KAT6B:c.3310_3312delGAA (E1104del) - KAT6B_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3289_3291del benign r.(?) p.(Glu1104del) Unknown g.76781906_76781908del - KAT6B:c.3310_3312delGAA (E1104del) - KAT6B_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3289_3291dup likely benign r.(?) p.(Glu1104dup) Unknown g.76781906_76781908dup - KAT6B:NM_001256468.1:c.2740_2742dup, NM_001256469.1:c.2413_2415dup, … - KAT6B_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3290_3291insGAA benign r.(?) p.(Glu1097_Glu1098insLys) Unknown g.76781907_76781908insGAA - KAT6B:c.3310_3312dupGAA (E1104dup) - KAT6B_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3349_3350del pathogenic r.(?) p.(Gln1117Valfs*19) Unknown g.76781966_76781967del - KAT6B:NM_012330.3::c.3349_3350del (Gln1117Valfs*19) - KAT6B_000089 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 17 c.3366_3369del - r.(?) p.(Lys1124Glyfs*5) Unknown g.76781983_76781986del g.75022225_75022228del - - KAT6B_000033 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - - - - - - 0 - - 1 Jill Clayton-Smith
+?/. 17 c.3401_3402del - r.(?) p.(Gly1134Alafs*2) Unknown g.76784744_76784745del g.75024986_75024987del - - KAT6B_000025 - - - - Unknown - - - 0 - DNA SEQ - - SBBYSS - - Typical Say Barber Biesecker F - - - - 0 - - 1 Jill Clayton-Smith
+?/. 17 c.3598_3622dup25 - r.(?) p.(Gly1208Glufs*19) Unknown g.76784941_76784965dup g.75025183_75025207dup25 - - KAT6B_000034 - - - - De novo - - - 0 - DNA SEQ - - GTPTS - - - F - - - - 0 - - 1 Jill Clayton-Smith
+?/. - c.3601_3603del - r.(?) p.(Arg1201del) Unknown g.76784944_76784946del - MC_000010.11: c.3603_3606del, p.Arg1201fs - KAT6B_000097 - PubMed: [Okano 2018] - - De novo - - - 0 - DNA SEQ - - - - PubMed: [Okano 2018] Genitopatellar syndrome (GPS) F no Japan - - 0 - - 1 Philippe Campeau
-?/. - c.3649G>T likely benign r.(?) p.(Ala1217Ser) Unknown g.76784992G>T - KAT6B:NM_001256468.1:c.3100G>T, NM_001256469.1:c.2773G>T, … - KAT6B_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3665-1G>A pathogenic r.spl? p.? Unknown g.76788246G>A - KAT6B:NM_012330.2:c.3665-1G>A (?) - KAT6B_000090 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 18 c.3680_3695del - r.(?) p.(Asp1227Glufs*11) Unknown g.76788262_76788277del g.75028504_75028519del - - KAT6B_000017 - PubMed: Simpson et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - PubMed: Simpson et al. - F ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+?/. - c.3736C>T - r.(?) p.(Gln1246*) Unknown g.76788318C>T - - - KAT6B_000101 - PubMed: [Knight 2018] - - Germline - - - 0 - DNA SEQ-NG - WES - - PubMed: [Knight 2018] - M - - - - 0 - - 1 Philippe Campeau
+?/. 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13) Unknown g.76788351_76788354del g.75028593_75028596del - - KAT6B_000035 - - - - Unknown - - - 0 - DNA SEQ - - GTPTS - - - M - - - - 0 - - 1 Jill Clayton-Smith
+/+ 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13) Unknown g.76788351_76788354del g.75028593_75028596del c.3769_3772delTCTA - KAT6B_000018 - PubMed: Simpson et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - F ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13) Unknown g.76788351_76788354del g.75028593_75028596del c.3769_3772delTCTA - KAT6B_000018 - PubMed: Simpson et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13) Unknown g.76788351_76788354del g.75028593_75028596del c.3769_3772delTCTA - KAT6B_000005 - PubMed: Campeau et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13) Unknown g.76788351_76788354del g.75028593_75028596del c.3769_3772delTCTA - KAT6B_000005 - PubMed: Campeau et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 18 c.3773dup - r.(?) p.(Trp1259Valfs*12) Unknown g.76788355dup g.75028597dup - - KAT6B_000020 - PubMed: Simpson et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - F ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/. - c.3773dup pathogenic r.(?) p.(Trp1259Valfs*12) Unknown g.76788355dup - KAT6B:NM_012330.2:c.3773dup (Trp1259fs) - KAT6B_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 18 c.3788_3789del - r.(?) p.(Lys1263Argfs*7) Unknown g.76788370_76788371del g.75028612_75028613del c.3788_3789delAA - KAT6B_000006 - PubMed: Campeau et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - F ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/. - c.3788_3789del pathogenic r.(?) p.(Lys1263Argfs*7) Unknown g.76788370_76788371del - KAT6B:NM_012330.2:c.3788_3789del (Lys1263fs) - KAT6B_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 18 c.3802G>T - r.(?) p.(Gly1268*) Unknown g.76788384G>T g.75028626G>T - - KAT6B_000004 - PubMed: Campeau et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - F ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 18 c.3860_3863del - r.(?) p.(Val1287Glufs*46) Unknown g.76788442_76788445del g.75028684_75028687del c.3860_3863delTAAC - KAT6B_000022 - - - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 18 c.3877A>T - r.(?) p.(Lys1293*) Unknown g.76788459A>T g.75028701A>T - - KAT6B_000019 - PubMed: Simpson et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 18 c.3892G>T - r.(?) p.(Gly1298*) Unknown g.76788474G>T g.75028716G>T - - KAT6B_000002 - PubMed: Campeau et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - F ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+?/. 18 c.3962_3963del - r.(?) p.(Gln1321Argfs*20) Unknown g.76788544_76788545del g.75028786_75028787del - - KAT6B_000036 - - - - Unknown - - - 0 - DNA SEQ - - GTPTS - - - M - - - - 0 - - 1 Jill Clayton-Smith
+/. - c.3962_3963del pathogenic r.(?) p.(Gln1321Argfs*20) Unknown g.76788544_76788545del - KAT6B:NM_012330.2:c.3962_3963del (Gln1321fs) - KAT6B_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4036G>T likely benign r.(?) p.(Asp1346Tyr) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4036G>T VUS r.(?) p.(Asp1346Tyr) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4063_4068del VUS r.(?) p.(Glu1367_Glu1368del) Unknown g.76788645_76788650del - KAT6B:NM_001256468.1:c.3514_3519del, NM_001256469.1:c.3187_3192del, … - KAT6B_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 18 c.4069G>T - r.(?) p.(Glu1357*) Unknown g.76788651G>T g.75028893G>T - - KAT6B_000009 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - DNA SEQ - - SBBYSS - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+?/. 18 c.4074_4079del - r.(?) p.(Glu1367_Glu1368del) Unknown g.76788656_76788661del g.75028898_75028903del - - KAT6B_000037 - - - - De novo - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
-/. - c.4077_4078insAAGAGGAAG benign r.(?) p.(Glu1359_Glu1360insLysArgLys) Unknown g.76788659_76788660insAAGAGGAAG - KAT6B:c.4097_4105dupAAGAGGAAG (E1366_E1368dup) - KAT6B_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4078_4086del benign r.(?) p.(Glu1366_Glu1368del) Unknown g.76788660_76788668del - KAT6B:c.4097_4105delAAGAGGAAG (E1366_E1368del) - KAT6B_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.4096G>T ACMG 4 r.(?) p.(Glu1366*) Unknown g.76788678G>T g.75028920G>T - - KAT6B_000051 - Trujillano et al., submitted - - De novo - - - 0 - DNA SEQ, SEQ-NG - - GTPTS - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - 1 Daniel Trujillano
-/. - c.4097_4105del benign r.(?) p.(Glu1366_Glu1368del) Unknown g.76788679_76788687del - KAT6B:NM_012330.3:c.4097_4105del (Glu1366_Glu1368del) - KAT6B_000091 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4097_4105dup VUS r.(?) p.(Glu1366_Glu1368dup) Unknown g.76788679_76788687dup - KAT6B:NM_001256468.1:c.3528_3529insGAAGAGGAA, NM_001256469.1:c.3201_3202insGAAGAGGAA, … - KAT6B_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4104_4105insAAGAGGAAG likely benign r.(?) p.(Glu1368_Gly1369insLysArgLys) Unknown g.76788686_76788687insAAGAGGAAG - KAT6B:c.4097_4105dupAAGAGGAAG (E1366_E1368dup) - KAT6B_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 18 c.4114G>T - r.(?) p.(Glu1372*) Unknown g.76788696G>T g.75028938G>T - - KAT6B_000038 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - - - - - - 0 - - 1 Jill Clayton-Smith
+?/. - c.4171G>T - r.(?) p.(Glu1391*) Unknown g.76788753G>T - - - KAT6B_000099 - - - - De novo - - - 0 - DNA SEQ-NG - WES GTPTS, SBBYSS - PubMed: [Vlckova 2015] - F no - - - 0 - - 1 Philippe Campeau
+?/. - c.4171G>T - r.(?) p.(Glu1391*) Unknown g.76788753G>T - - - KAT6B_000099 - PubMed: [Vlckova et al. 2015] - - De novo - - - 0 - DNA SEQ - - - - PubMed: Vlckova 2015 - F no Czech Republic - - 0 - - 1 Philippe Campeau
+?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - - - - De novo - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
+?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - - - - Unknown - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
+?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - - - - De novo - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - DNA SEQ - - SBBYSS - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - DNA SEQ - - SBBYSS - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+?/. - c.4205_4206delCT - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788delCT - - - KAT6B_000107 - PubMed: [Bashir 2017] - - De novo - - - 0 - DNA SEQ-NG - WES - Patient 2 in report PubMed: [Bashir 2017] - M no - - - 0 - - 1 Philippe Campeau
-/. - c.4278C>T benign r.(=) p.(=) Unknown g.76788860C>T - KAT6B:NM_012330.2:c.4278C>T (=) - KAT6B_000092 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 18 c.4312del - r.(?) p.(Glu1438Lysfs*23) Unknown g.76788894del g.75029136del - - KAT6B_000039 - - - - Unknown - - - 0 - DNA SEQ - - SBBYSS - - - F - - - - 0 - - 1 Jill Clayton-Smith
+?/. 18 c.4320_4321del - r.(?) p.(Lys1441Glyfs*22) Unknown g.76788902_76788903del g.75029144_75029145del - - KAT6B_000040 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - - - - - - 0 - - 1 Jill Clayton-Smith
+/+ 18 c.4360_4368delinsAAAAACCAAAA - r.(?) p.(Glu1454Lysfs*8) Unknown g.76788942_76788950delinsAAAAACCAAAA g.75029184_75029192delinsAAAAACCAAAA - - KAT6B_000003 - PubMed: Campeau et al. - - Unknown ? - - 0 - DNA SEQ - - GTPTS - - - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/. - c.4379del pathogenic r.(?) p.(Leu1460*) Unknown g.76788961del - KAT6B:NM_012330.3:c.4379del (Leu1460*) - KAT6B_000093 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 18 c.4405dup - r.(?) p.(Ser1469Phefs*18) Unknown g.76788987dup g.75029229dup - - KAT6B_000001 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - DNA SEQ - - SBBYSS - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
-?/. - c.4478C>T likely benign r.(?) p.(Ala1493Val) Unknown g.76789060C>T - KAT6B:NM_001256468.1:c.3929C>T, NM_001256469.1:c.3602C>T, … - KAT6B_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4495G>A benign r.(?) p.(Val1499Ile) Unknown g.76789077G>A - KAT6B:NM_012330.2:c.4495G>A (Val1499Ile) - KAT6B_000094 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.4572dupT - r.(?) p.(Thr1525Tyrfs*16) Unknown g.76789154dupT - - - KAT6B_000106 - PubMed: [Bashir 2017] - - De novo - - - 0 - DNA SEQ-NG - WES - Patient 1 in report PubMed: [Bashir 2017] - M no - - - 0 - - 1 Philippe Campeau
+?/. - c.4592delA - r.(?) p.(Asn1531Thrfs*18) Unknown g.76789174delA - - - KAT6B_000105 - PubMed: [Radvanszky 2017] - - De novo - - - 0 - DNA ? - - - - PubMed: [Radvanszky 2017] - F - - - - 0 - - 1 Philippe Campeau
+/. - c.4602del pathogenic r.(?) p.(Met1535Trpfs*14) Unknown g.76789184del - KAT6B:NM_012330.3:c.4602del (Met1535fs) - KAT6B_000095 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4633G>A likely benign r.(?) p.(Val1545Ile) Unknown g.76789215G>A - KAT6B:NM_001256468.1:c.4084G>A, NM_001256469.1:c.3757G>A, … - KAT6B_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 18 c.4728_4729del - r.(?) p.(Arg1577Cysfs*21) Unknown g.76789310_76789311del g.75029552_75029553del - - KAT6B_000041 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - F - - - - 0 - - 1 Jill Clayton-Smith
-?/. - c.4835G>A likely benign r.(?) p.(Arg1612His) Unknown g.76789417G>A - KAT6B:NM_001256468.1:c.4286G>A, NM_001256469.1:c.3959G>A, … - KAT6B_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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