All variants in the KAT6B gene

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

212 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. - c.-615279_*1736057del r.? p.? - pathogenic g.75971593_78526861del g.74211835_76767103del - - ADK_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
?/. - c.2T>C r.(?) p.(Met1?) - VUS g.76602617T>C g.74842859T>C KAT6B(NM_012330.3):c.2T>C (p.(Met1?)) - KAT6B_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.262T>G r.(?) p.(Phe88Val) - likely benign g.76602877T>G g.74843119T>G KAT6B(NM_001256468.1):c.262T>G (p.(Phe88Val)) - KAT6B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.375C>T r.(?) p.(Ser125=) - likely benign g.76602990C>T g.74843232C>T - - KAT6B_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.431A>C r.(?) p.(Asn144Thr) - likely benign g.76603046A>C g.74843288A>C KAT6B(NM_001256468.1):c.431A>C (p.(Asn144Thr)) - KAT6B_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 3 c.527dup r.(?) p.(Tyr176*) - pathogenic g.76603142dup g.74843384dup - - KAT6B_000014 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - Philippe Campeau
+/+ 3i t(10;13)(q22.3;q34)(c.621+26310_621+26311) r.0? p.0? - pathogenic 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 - Philippe Campeau
+?/. - c.708_709del r.(?) p.(Ala238Argfs*5) - likely pathogenic (dominant) g.76719814_76719815del g.74960056_74960057del - - KAT6B_000141 - - - - De novo - - - 0 - Philippe Campeau
+?/. - c.847-2A>G r.spl? p.? - likely pathogenic (dominant) g.76729776A>G g.74970018A>G - - KAT6B_000157 inherited variant (from mother) PubMed: Yates 2019 - - Germline - - - 0 - Philippe Campeau
+?/. - c.847-2A>G r.spl? p.? - likely pathogenic (dominant) g.76729776A>G g.74970018A>G - - KAT6B_000157 - PubMed: Yates 2019 - - Germline - - - 0 - Philippe Campeau
+?/. - c.847-2A>G r.spl? p.? - likely pathogenic (dominant) g.76729776A>G g.74970018A>G - - KAT6B_000157 inherited variant (from mother) PubMed: Yates 2019 - - Germline - - - 0 - Philippe Campeau
+?/. - c.847-2A>G r.spl? p.? - likely pathogenic (dominant) g.76729776A>G g.74970018A>G - - KAT6B_000157 inherited variant (from mother) PubMed: Yates 2019 - - Germline - - - 0 - Philippe Campeau
+?/. - c.847-2A>G r.spl? p.? - likely pathogenic (dominant) g.76729776A>G g.74970018A>G - - KAT6B_000157 inherited variant (from mother) PubMed: Yates 2019 - - Germline - - - 0 - Philippe Campeau
+?/. - c.847-2A>G r.spl? p.? - likely pathogenic (dominant) g.76729776A>G g.74970018A>G - - KAT6B_000157 - PubMed: Yates 2019 - - Germline - - - 0 - Philippe Campeau
+?/. - c.847-2A>G r.spl p.? - likely pathogenic (dominant) g.76729776A>G g.74970018A>G - - KAT6B_000157 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. - c.928G>C r.(?) p.(Gly310Arg) - VUS g.76729859G>C g.74970101G>C - - KAT6B_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.929-12A>G r.(=) p.(=) - benign g.76732253A>G g.74972495A>G - - KAT6B_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1006C>T r.(?) p.(Arg336Ter) - pathogenic g.76732342C>T g.74972584C>T KAT6B(NM_012330.4):c.1006C>T (p.R336*) - KAT6B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1009C>T r.(?) p.(Arg337Ter) - pathogenic g.76732345C>T g.74972587C>T - - KAT6B_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1014T>G r.(?) p.(Tyr338*) - pathogenic g.76732350T>G - - - KAT6B_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1025T>C r.(?) p.(Ile342Thr) - likely benign g.76732361T>C g.74972603T>C - - KAT6B_000135 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs182392778 Germline - 8/2795 individuals - 0 - Mohammed Faruq
+?/. - c.1030C>T r.(?) p.(Arg344Ter) - likely pathogenic g.76732366C>T g.74972608C>T - - KAT6B_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1045_1049del r.(?) p.(Leu349Alafs*9) - likely pathogenic g.76732381_76732385del g.74972623_74972627del - - KAT6B_000104 - PubMed: Marangi 2017] - - De novo - - - 0 - Philippe Campeau
+?/. - c.1061+1G>A r.spl? p.? - likely pathogenic (dominant) g.76732398G>A g.74972640G>A - - KAT6B_000142 inherited variant (from mother) - - - Germline - - - 0 - Philippe Campeau
+?/. - c.1061+1G>A r.spl? p.? - likely pathogenic (dominant) g.76732398G>A g.74972640G>A - - KAT6B_000142 - - - - Unknown - - - 0 - Philippe Campeau
?/. - c.1196T>C r.(?) p.(Leu399Ser) - VUS g.76735291T>C g.74975533T>C KAT6B(NM_001256468.1):c.1196T>C (p.(Leu399Ser)) - KAT6B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1282A>C r.(?) p.(Asn428His) - likely benign g.76735377A>C g.74975619A>C KAT6B(NM_012330.4):c.1282A>C (p.N428H) - KAT6B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1354C>T r.(?) p.(Arg452Ter) - pathogenic g.76735449C>T g.74975691C>T KAT6B(NM_012330.3):c.1354C>T (p.R452*) - KAT6B_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1512C>A r.(?) p.(Ser504Arg) - VUS g.76735607C>A g.74975849C>A KAT6B(NM_012330.3):c.1512C>A (p.S504R) - KAT6B_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1563T>G r.(?) p.(Ser521Arg) - VUS g.76735658T>G g.74975900T>G KAT6B(NM_012330.4):c.1563T>G (p.S521R) - KAT6B_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1663G>A r.(?) p.(Gly555Arg) - likely benign g.76735758G>A g.74976000G>A KAT6B(NM_001256468.1):c.1444+219G>A (p.(=)) - KAT6B_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2021A>T r.(?) p.(Gln674Leu) - likely benign g.76737101A>T g.74977343A>T KAT6B(NM_001256468.1):c.1472A>T (p.(Gln491Leu)) - KAT6B_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2219A>G r.(?) p.(Gln740Arg) - likely benign g.76739085A>G - KAT6B(NM_001256468.1):c.1670A>G (p.(Gln557Arg)) - KAT6B_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2251dup r.(?) p.(Cys751Leufs*2) - pathogenic g.76741564dup - KAT6B(NM_012330.4):c.2251dupT (p.C751Lfs*2) - KAT6B_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2299C>T r.(?) p.(His767Tyr) - likely pathogenic g.76741612C>T g.74981854C>T missense variant c.2292C>T p.(His767Tyr) - KAT6B_000103 Mutation inherited from father PubMed: Kim 2017] - - Not applicable - - - 0 - Philippe Campeau
+?/. - c.2299C>T r.(?) p.(His767Tyr) - likely pathogenic g.76741612C>T g.74981854C>T missense variant c.2292C>T p.(His767Tyr) - KAT6B_000103 - PubMed: Kim 2017] - - Not applicable - - - 0 - Philippe Campeau
+?/. - c.2299C>T r.(?) p.(His767Tyr) - likely pathogenic g.76741612C>T g.74981854C>T missense variant c.2292C>T p.(His767Tyr) - KAT6B_000103 - PubMed: Kim 2017] - - Not applicable - - - 0 - Philippe Campeau
+/. - c.2347C>T r.(?) p.(Arg783Ter) - pathogenic g.76741660C>T g.74981902C>T - - KAT6B_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2535G>A r.(?) p.(Lys845=) - VUS g.76744999G>A - KAT6B(NM_012330.4):c.2535G>A (p.K845=) - KAT6B_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2542C>T r.(?) p.(Leu848Phe) - VUS g.76748783C>T g.74989025C>T KAT6B(NM_012330.4):c.2542C>T (p.L848F) - KAT6B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.2629+2T>C r.(?) p.(?) - likely pathogenic g.76748872T>C - - - KAT6B_000166 - - - - Unknown - - - 0 - IMGAG
+?/. - c.2636T>A r.(?) p.(Leu879*) - likely pathogenic g.76780346T>A g.75020588T>A - - KAT6B_000100 - PubMed: Li 2017 - - De novo - - - 0 - Philippe Campeau
?/. - c.2753A>G r.(?) p.(His918Arg) - VUS g.76780463A>G - KAT6B(NM_012330.4):c.2753A>G (p.H918R) - KAT6B_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2848_2849del r.(?) p.(Lys950Glufs*9) - VUS g.76780558_76780559del - KAT6B(NM_012330.3):c.2848_2849delAA (p.K950Efs*9) - KAT6B_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.2888T>A r.(?) p.(Leu963Ter) - pathogenic g.76780910T>A g.75021152T>A KAT6B(NM_012330.3):c.2888T>A (p.L963*) - KAT6B_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.2920T>C r.(?) p.(Cys974Arg) - VUS g.76780942T>C g.75021184T>C KAT6B(NM_012330.3):c.2920T>C (p.C974R) - KAT6B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 18 c.2959T>C r.(?) p.(Trp987Arg) - VUS g.76780981T>C g.75021223T>C - - KAT6B_000031 - - - - Unknown - - - 0 - Jill Clayton-Smith
+?/. - c.3004C>T r.(?) p.(Arg1002*) - likely pathogenic (dominant) g.76781026C>T g.75021268C>T - - KAT6B_000168 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/+ 15 c.3018del r.(?) p.(Glu1007Argfs*5) - pathogenic g.76781040del g.75021282del - - KAT6B_000008 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - Philippe Campeau
-?/. - c.3021+3A>G r.spl? p.? - likely benign g.76781046A>G g.75021288A>G - - KAT6B_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 18 c.3040C>T r.(?) p.(Gln1014*) - likely pathogenic g.76781657C>T g.75021899C>T - - KAT6B_000030 - - - - De novo - - - 0 - Jill Clayton-Smith
+?/. - c.3046del r.(?) p.(Ser1016Alafs*98) - likely pathogenic (dominant) g.76781663del g.75021905del - - KAT6B_000143 - - - - Unknown - - - 0 - Philippe Campeau
+?/. 16 c.3064G>T r.(?) p.(Glu1022*) - likely pathogenic g.76781681G>T g.75021923G>T - - KAT6B_000032 - - - - Unknown - - - 0 - Jill Clayton-Smith
+?/. - c.3122C>A r.(?) p.(Ser1041*) - likely pathogenic (dominant) g.76781739C>A g.75021981C>A - - KAT6B_000144 - - - - De novo - - - 0 - Philippe Campeau
+?/. 16 c.3147G>A r.(=) p.(=) - likely pathogenic g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - 0 - Jill Clayton-Smith
+?/. 16 c.3147G>A r.(spl?) p.(?) - likely pathogenic g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - 0 - Jill Clayton-Smith
+?/. 16 c.3147G>A r.(=) p.(=) - likely pathogenic g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - 0 - Jill Clayton-Smith
+?/. - c.3147G>A r.(=) p.(=) - likely pathogenic g.76781764G>A g.75022006G>A c.3147G>A, p.(Pro1049Pro) - KAT6B_000026 - PubMed: Yilmaz 2015] - - De novo - - - 0 - Philippe Campeau
+?/. - c.3147G>A r.(=) p.(=) - likely pathogenic g.76781764G>A g.75022006G>A c.3147G>A, p.(Pro1050Pro) - KAT6B_000026 - PubMed: Yilmaz 2015] - - De novo - - - 0 - Philippe Campeau
+?/. - c.3147G>A r.(=) p.(=) - likely pathogenic g.76781764G>A g.75022006G>A c.3147G>A, p.(Pro1051Pro) - KAT6B_000026 - PubMed: Yilmaz 2015] - - De novo - - - 0 - Philippe Campeau
+/. - c.3147G>A r.(?) p.(Pro1049=) - pathogenic g.76781764G>A - KAT6B(NM_012330.4):c.3147G>A (p.P1049=) - KAT6B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.3152del r.(?) p.(Ser1051Thrfs*63) - likely pathogenic g.76781769del g.75022011del 3152delG - KAT6B_000108 - - - - De novo - - - 0 - Alejandro Brea-Fernández
+/. - c.3172C>T r.(?) p.(Arg1058Ter) - pathogenic g.76781789C>T g.75022031C>T - - KAT6B_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.3172C>T r.(?) p.(Arg1058*) - likely pathogenic (dominant) g.76781789C>T g.75022031C>T - - KAT6B_000086 - - - - De novo - - - 0 - Philippe Campeau
+?/. - c.3172C>T r.(?) p.(Arg1058*) - likely pathogenic (dominant) g.76781789C>T g.75022031C>T - - KAT6B_000086 - - - - De novo - - - 0 - Philippe Campeau
?/. - c.3173G>A r.(?) p.(Arg1058Gln) - VUS g.76781790G>A - KAT6B(NM_012330.3):c.3173G>A (p.R1058Q) - KAT6B_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.3202_3203del r.(?) p.(Ser1068Glnfs*2) - likely pathogenic (dominant) g.76781819_76781820del g.75022061_75022062del - - KAT6B_000145 - - - - De novo - - - 0 - Philippe Campeau
-?/. - c.3231_3242del r.(?) p.(Asp1077_Glu1080del) - likely benign g.76781848_76781859del g.75022090_75022101del KAT6B(NM_001256468.1):c.2671_2682del (p.(Asp894_Glu897del)), KAT6B(NM_012330.4):c.3231_3242delCGAGGAGGAGGA (p.D1077_E1080del) - KAT6B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.3231_3242del r.(?) p.(Asp1077_Glu1080del) - likely benign g.76781848_76781859del g.75022090_75022101del KAT6B(NM_001256468.1):c.2671_2682del (p.(Asp894_Glu897del)), KAT6B(NM_012330.4):c.3231_3242delCGAGGAGGAGGA (p.D1077_E1080del) - KAT6B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.3241G>T r.(?) p.(Glu1081Ter) - pathogenic g.76781858G>T g.75022100G>T - - KAT6B_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.3252_3254del r.(?) p.(Glu1089del) - benign g.76781869_76781871del g.75022111_75022113del KAT6B(NM_012330.3):c.3252_3254delGGA (p.E1089del) - KAT6B_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3252_3263del r.(?) p.(Glu1086_Glu1089del) - likely benign g.76781869_76781880del g.75022111_75022122del KAT6B(NM_001256468.1):c.2686_2697del (p.(Glu903_Glu906del)) - KAT6B_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3255A>G r.(?) p.(Glu1085=) - likely benign g.76781872A>G g.75022114A>G KAT6B(NM_012330.3):c.3255A>G (p.E1085=) - KAT6B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3256G>T r.(?) p.(Glu1086*) - likely pathogenic (dominant) g.76781873G>T g.75022115G>T - - KAT6B_000146 - - - - Unknown - - - 0 - Philippe Campeau
-?/. - c.3258A>C r.(?) p.(Glu1086Asp) - likely benign g.76781875A>C g.75022117A>C KAT6B(NM_012330.3):c.3258A>C (p.E1086D) - KAT6B_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3264A>G r.(?) p.(Glu1088=) - likely benign g.76781881A>G g.75022123A>G KAT6B(NM_012330.3):c.3264A>G (p.E1088=) - KAT6B_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3264dup r.(?) p.(Glu1089Argfs*3) - likely pathogenic (dominant) g.76781881dup g.75022123dup - - KAT6B_000147 - - - - De novo - - - 0 - Philippe Campeau
+?/. - c.3280del r.(?) p.(Glu1094Lysfs*20) - likely pathogenic (dominant) g.76781897del g.75022139del - - KAT6B_000148 - - - - De novo - - - 0 - Philippe Campeau
-/. - c.3310_3312del r.(?) p.(Glu1104del) - benign g.76781927_76781929del g.75022169_75022171del KAT6B(NM_012330.3):c.3310_3312delGAA (p.E1104del), KAT6B(NM_012330.4):c.3310_3312delGAA (p.E1104del) - KAT6B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.3310_3312del r.(?) p.(Glu1104del) - benign g.76781927_76781929del g.75022169_75022171del KAT6B(NM_012330.3):c.3310_3312delGAA (p.E1104del), KAT6B(NM_012330.4):c.3310_3312delGAA (p.E1104del) - KAT6B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3310_3312dup r.(?) p.(Glu1104dup) - likely benign g.76781927_76781929dup g.75022169_75022171dup KAT6B(NM_001256468.1):c.2740_2742dup (p.(Glu921dup)), KAT6B(NM_012330.3):c.3310_3312dupGAA (p.E1104dup), KAT6B(NM_012330.4):c.3310_3312dupGAA (p.E...) - KAT6B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3310_3312dup r.(?) p.(Glu1104dup) - benign g.76781927_76781929dup g.75022169_75022171dup KAT6B(NM_001256468.1):c.2740_2742dup (p.(Glu921dup)), KAT6B(NM_012330.3):c.3310_3312dupGAA (p.E1104dup), KAT6B(NM_012330.4):c.3310_3312dupGAA (p.E...) - KAT6B_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3310_3312dup r.(?) p.(Glu1104dup) - likely benign g.76781927_76781929dup g.75022169_75022171dup KAT6B(NM_001256468.1):c.2740_2742dup (p.(Glu921dup)), KAT6B(NM_012330.3):c.3310_3312dupGAA (p.E1104dup), KAT6B(NM_012330.4):c.3310_3312dupGAA (p.E...) - KAT6B_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.3349_3350del r.(?) p.(Gln1117ValfsTer19) - pathogenic g.76781966_76781967del - - - KAT6B_000089 - - - - Unknown - - - 0 - MobiDetails
+?/. 17 c.3366_3369del r.(?) p.(Lys1124Glyfs*5) - likely pathogenic g.76781983_76781986del g.75022225_75022228del - - KAT6B_000033 - - - - De novo - - - 0 - Jill Clayton-Smith
+?/. - c.3401del r.(?) p.(Gly1134Valfs*11) - likely pathogenic (dominant) g.76784744del g.75024986del - - KAT6B_000149 - - - - De novo - - - 0 - Philippe Campeau
+?/. 17 c.3401_3402del r.(?) p.(Gly1134Alafs*2) - likely pathogenic g.76784744_76784745del g.75024986_75024987del - - KAT6B_000025 - - - - Unknown - - - 0 - Jill Clayton-Smith
+?/. - c.3578_3585del r.(?) p.(Phe1193Serfs*23) - likely pathogenic (dominant) g.76784921_76784928del g.75025163_75025170del - - KAT6B_000152 - - - - De novo - - - 0 - Philippe Campeau
+?/. - c.3581del r.(?) p.(Gln1194Argfs*31) - likely pathogenic (dominant) g.76784924del g.75025166del - - KAT6B_000160 - - - - Unknown - - - 0 - Philippe Campeau
+?/. 17 c.3598_3622dup r.(?) p.(Gly1208Glufs*19) - likely pathogenic g.76784941_76784965dup g.75025183_75025207dup - - KAT6B_000034 - - - - De novo - - - 0 - Jill Clayton-Smith
+?/. - c.3606_3609del r.(?) p.(Thr1203Argfs*21) - likely pathogenic (dominant) g.76784949_76784952del g.75025191_75025194del MC_000010.11: c.3603_3606del, p.Arg1201fs - KAT6B_000097 - PubMed: Okano 2018] - - De novo - - - 0 - Philippe Campeau
?/. - c.3649G>T r.(?) p.(Ala1217Ser) - VUS g.76784992G>T g.75025234G>T KAT6B(NM_001256468.1):c.3100G>T (p.(Ala1034Ser)), KAT6B(NM_012330.3):c.3649G>T (p.A1217S) - KAT6B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3649G>T r.(?) p.(Ala1217Ser) - benign g.76784992G>T g.75025234G>T KAT6B(NM_001256468.1):c.3100G>T (p.(Ala1034Ser)), KAT6B(NM_012330.3):c.3649G>T (p.A1217S) - KAT6B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3664+6T>A r.(=) p.(=) - likely pathogenic (dominant) g.76785013T>A g.75025255T>A - - KAT6B_000138 - - - - De novo - - - 0 - Philippe Campeau
+/. - c.3665-1G>A r.spl? p.? - pathogenic g.76788246G>A g.75028488G>A - - KAT6B_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 18 c.3681_3696del r.(?) p.(Asp1227Glufs*11) - pathogenic g.76788263_76788278del g.75028505_75028520del - - KAT6B_000017 - PubMed: Simpson et al. - - Unknown ? - - 0 - Philippe Campeau
-?/. - c.3718G>A r.(?) p.(Glu1240Lys) - likely benign g.76788300G>A g.75028542G>A - - KAT6B_000136 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140989004 Germline - 6/2795 individuals - 0 - Mohammed Faruq
-?/. - c.3729G>C r.(?) p.(Lys1243Asn) - likely benign g.76788311G>C - KAT6B(NM_001256468.1):c.3180G>C (p.(Lys1060Asn)) - KAT6B_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.3736C>T r.(?) p.(Gln1246*) - likely pathogenic g.76788318C>T g.75028560C>T - - KAT6B_000101 - PubMed: Knight 2018] - - Germline - - - 0 - Philippe Campeau
+?/. 18 c.3769_3772del r.(?) p.(Lys1258Glyfs*13) - likely pathogenic g.76788351_76788354del g.75028593_75028596del - - KAT6B_000035 - - - - Unknown - - - 0 - Jill Clayton-Smith
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »