KAT6B[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1489451.	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 GRCh37: Chr10:52489127-88906961 GRCh38: Chr10:50729367-87147204	LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462391, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LOC283045, LOC642361, LOC729815, LRIT1, LRIT2, LRMDA, LRRC20, LRRTM3, MACROH2A2, MAT1A, MBL2, MCU, MICU1, MIR1254-1, MIR1296, MIR346, MIR3924, MIR4676, MIR548F1, MIR605, MIR606, MIR7151, MIR7152, MMRN2, MRLN, MRPS16, MSS51, MTRNR2L5, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NRBF2, NRG3, NRG3-AS1, NUDT13, NUTM2B, NUTM2B-AS1, NUTM2E, OIT3, OPN4, P4HA1, PALD1, PBLD, PCBD1, PCDH15, PHYHIPL, PLA2G12B, PLAC9, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PRKG1, PRKG1-AS1, PRXL2A, PSAP, REEP3, RGR, RHOBTB1, RPS24, RTKN2, RUFY2, SAMD8, SAR1A, SEC24C, SFTPA1, SFTPA2, SFTPD, SGPL1, SH2D4B, SHLD2, SIRT1, SLC16A9, SLC25A16, SLC29A3, SNCG, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TFAM, TMEM254, TMEM254-AS1, TMEM26, TMEM26-AS1, TRS-TGA1-1, TSPAN14, TSPAN14-AS1, TSPAN15, TYSND1, UBE2D1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, WAPL, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF365, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1, ZWINT, A1CF, ADAMTS14, ADIRF, ADIRF-AS1, ADK, ADO, AGAP11, AGAP5, AIFM2, ANAPC16, ANK3, ANK3-DT, ANXA11, ANXA7, AP3M1, ARID5B, ASAH2B, ASCC1, ATOH7, BICC1, BMPR1A, C10orf105, C10orf55, CABCOCO1, CAMK2G, CCAR1, CCDC6, CCEPR, CCSER2, CDH23, CDH23-AS1, CDHR1, CDK1, CERNA2, CFAP70, CHCHD1, CHST3, CISD1, COL13A1, COMTD1, CSTF2T, CTNNA3, DDIT4, DDX21, DDX50, DKK1, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, DYDC1, DYDC2, ECD, EGR2, EIF4EBP2, EIF5AL1, FAM13C, FAM149B1, FAM241B, FAM25A, FUT11, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, HERC4, HK1, HKDC1, HNRNPH3, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LDB3, LINC00595, LINC00844, LINC00845, LINC00856, LINC00857, LINC00858, LINC01515, LINC01519, LINC01520, LINC01553, LINC02621, LINC02622, LINC02636, LINC02647, LINC02650, LINC02651, LINC02655, LINC02671, LINC02672, LINC02679, LNCAROD, LOC100130698, LOC100131132, LOC101928961, LOC101928994, LOC101929165, LOC101929234, LOC101929662, LOC102723439, LOC102723703, LOC102724719, LOC105378305, LOC105378311, LOC105378367, LOC105378396, LOC107832851, LOC107984236, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121486, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC111982876, LOC111982877, LOC111982878, LOC112268068, LOC113939917, LOC116216113, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC121815953, LOC124403956, LOC124403957, LOC124403958, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC126860963		See cases	Pathogenic (Dec 16, 2011)	no assertion criteria provided
Select item 1474772.	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 GRCh37: Chr10:65162339-77055857 GRCh38: Chr10:63402579-75296099	ADAMTS14, ADK, AGAP5, AIFM2, ANAPC16, ANXA7, AP3M1, ASCC1, ATOH7, C10orf105, C10orf55, CAMK2G, CCAR1, CDH23, CDH23-AS1, CFAP70, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDX21, DDX50, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, EIF4EBP2, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KIFBP, LINC01515, LINC02622, LINC02636, LINC02651, LINC02671, LOC101928961, LOC101928994, LOC101929165, LOC102723439, LOC107832851, LOC108178982, LOC110120903, LOC110121366, LOC110121382, LOC110121485, LOC111365158, LOC111365196, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LRRC20, LRRTM3, MACROH2A2, MCU, MICU1, MIR1254-1, MIR4676, MIR7151, MIR7152, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PLA2G12B, PLAU, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PSAP, REEP3, RUFY2, SAMD8, SAR1A, SEC24C, SGPL1, SIRT1, SLC25A16, SLC29A3, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, ZNF503, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1461153.	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 GRCh37: Chr10:68956325-81181813 GRCh38: Chr10:67196567-79422057	ADAMTS14, ADK, AGAP5, AIFM2, ANAPC16, ANXA7, AP3M1, ASCC1, ATOH7, C10orf105, C10orf55, CAMK2G, CCAR1, CDH23, CDH23-AS1, CFAP70, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDX21, DDX50, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, EIF4EBP2, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LINC00595, LINC00856, LINC02622, LINC02636, LINC02651, LOC100131132, LOC101928994, LOC101929165, LOC101929234, LOC102723439, LOC105378367, LOC107832851, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC113939917, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC126860963, LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LRMDA, LRRC20, MACROH2A2, MCU, MICU1, MIR1254-1, MIR4676, MIR606, MIR7151, MIR7152, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PLA2G12B, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PSAP, RPS24, RUFY2, SAMD8, SAR1A, SEC24C, SGPL1, SIRT1, SLC25A16, SLC29A3, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 587454.	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 GRCh37: Chr10:74480386-77372132 GRCh38: Chr10:72720628-75612374	ADK, AGAP5, ANXA7, AP3M1, C10orf55, CAMK2G, CFAP70, CHCHD1, COMTD1, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, FAM149B1, FUT11, KAT6B, LOC101929165, LOC101929234, LOC102723439, LOC110120879, LOC110120903, LOC110121366, LOC110121382, LOC110121485, LOC111982871, LOC116216115, LOC116216116, LOC121366062, LOC121815949, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LRMDA, MCU, MIR4676, MIR606, MRPS16, MSS51, MYOZ1, NDST2, NDST2-ZSWIM8-AS1, NUDT13, OIT3, P4HA1, PLA2G12B, PLAU, PPP3CB, PPP3CB-AS1, SAMD8, SEC24C, SNORA11F, SNORD172, SYNPO2L, SYNPO2L-AS1, USP54, VCL, VDAC2, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1458365.	GRCh38/hg38 10q22.2(chr10:74753051-74825845)x1 GRCh37: Chr10:76512809-76643827 GRCh38: Chr10:74753051-74825845	KAT6B, LOC110121382		See cases	Likely benign (Nov 30, 2010)	no assertion criteria provided
Select item 3008516.	NM_012330.4(KAT6B):c.-424_-419dup GRCh37: Chr10:76586443-76586444 GRCh38: Chr10:74826685-74826686	KAT6B		KAT6B-Related Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 5073357.	NM_012330.4(KAT6B):c.-278C>T GRCh37: Chr10:76598491 GRCh38: Chr10:74838733	KAT6B		not specified	Likely benign (Nov 9, 2017)	criteria provided, single submitter
Select item 12371978.	NM_012330.4(KAT6B):c.-258-101del GRCh37: Chr10:76602256 GRCh38: Chr10:74842498	KAT6B		not provided	Benign (Oct 22, 2019)	criteria provided, single submitter
Select item 17128579.	NM_012330.4(KAT6B):c.-2C>T GRCh37: Chr10:76602614 GRCh38: Chr10:74842856	KAT6B		not provided	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 170805910.	NM_012330.4(KAT6B):c.1A>G (p.Met1Val) GRCh37: Chr10:76602616 GRCh38: Chr10:74842858	KAT6B	M1V	Blepharophimosis - intellectual disability syndrome, SBBYS type	Likely pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 196493711.	NM_012330.4(KAT6B):c.27T>C (p.Tyr9_Thr10=) GRCh37: Chr10:76602642 GRCh38: Chr10:74842884	KAT6B		Genitopatellar syndrome	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 109466512.	NM_012330.4(KAT6B):c.66G>A (p.Lys22=) GRCh37: Chr10:76602681 GRCh38: Chr10:74842923	KAT6B		Genitopatellar syndrome	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 136358113.	NM_012330.4(KAT6B):c.86A>T (p.Glu29Val) GRCh37: Chr10:76602701 GRCh38: Chr10:74842943	KAT6B	E29V	Genitopatellar syndrome	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 131418214.	NM_012330.4(KAT6B):c.102T>G (p.His34Gln) GRCh37: Chr10:76602717 GRCh38: Chr10:74842959	KAT6B	H34Q	not provided	Uncertain significance (Mar 11, 2021)	criteria provided, single submitter
Select item 205176915.	NM_012330.4(KAT6B):c.104C>T (p.Ala35Val) GRCh37: Chr10:76602719 GRCh38: Chr10:74842961	KAT6B	A35V	Genitopatellar syndrome	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 102635616.	NM_012330.4(KAT6B):c.112A>G (p.Thr38Ala) GRCh37: Chr10:76602727 GRCh38: Chr10:74842969	KAT6B	T38A	Genitopatellar syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 56197117.	NM_012330.4(KAT6B):c.119A>G (p.His40Arg) GRCh37: Chr10:76602734 GRCh38: Chr10:74842976	KAT6B	H40R	Genitopatellar syndrome, not provided	Conflicting interpretations of pathogenicity (Jan 7, 2022)	criteria provided, conflicting interpretations
Select item 111223418.	NM_012330.4(KAT6B):c.121G>A (p.Gly41Arg) GRCh37: Chr10:76602736 GRCh38: Chr10:74842978	KAT6B	G41R	Genitopatellar syndrome	Likely benign (Jun 6, 2020)	criteria provided, single submitter
Select item 170568119.	NM_012330.4(KAT6B):c.130A>T (p.Lys44Ter) GRCh37: Chr10:76602745 GRCh38: Chr10:74842987	KAT6B	K44*	Blepharophimosis - intellectual disability syndrome, SBBYS type	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 120405720.	NM_012330.4(KAT6B):c.147A>G (p.Glu49=) GRCh37: Chr10:76602762 GRCh38: Chr10:74843004	KAT6B		Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome, not provided, Genitopatellar syndrome	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 197856621.	NM_012330.4(KAT6B):c.198A>G (p.Lys66_Gly67=) GRCh37: Chr10:76602813 GRCh38: Chr10:74843055	KAT6B		Genitopatellar syndrome	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 214633022.	NM_012330.4(KAT6B):c.228C>T (p.Asn76_Pro77=) GRCh37: Chr10:76602843 GRCh38: Chr10:74843085	KAT6B		Genitopatellar syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 201506423.	NM_012330.4(KAT6B):c.230del (p.Pro77fs) GRCh37: Chr10:76602843 GRCh38: Chr10:74843085	KAT6B	P77fs	Genitopatellar syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 26569724.	NM_012330.4(KAT6B):c.257del (p.Gly86fs) GRCh37: Chr10:76602871 GRCh38: Chr10:74843113	KAT6B	G86fs	not provided	Pathogenic (Aug 23, 2016)	criteria provided, single submitter
Select item 56196025.	NM_012330.4(KAT6B):c.282del (p.Ser95fs) GRCh37: Chr10:76602894 GRCh38: Chr10:74843136	KAT6B	S95fs	not provided	Pathogenic (Oct 18, 2019)	criteria provided, single submitter
Select item 147509626.	NM_012330.4(KAT6B):c.281G>A (p.Gly94Glu) GRCh37: Chr10:76602896 GRCh38: Chr10:74843138	KAT6B	G94E	Genitopatellar syndrome	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 113176827.	NM_012330.4(KAT6B):c.282G>A (p.Gly94=) GRCh37: Chr10:76602897 GRCh38: Chr10:74843139	KAT6B		Genitopatellar syndrome, Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type	Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213416628.	NM_012330.4(KAT6B):c.293C>T (p.Ser98Leu) GRCh37: Chr10:76602908 GRCh38: Chr10:74843150	KAT6B	S98L	Genitopatellar syndrome	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 223184629.	NM_012330.4(KAT6B):c.304C>A (p.Leu102Ile) GRCh37: Chr10:76602919 GRCh38: Chr10:74843161	KAT6B	L102I	Inborn genetic diseases	Uncertain significance (Jun 24, 2021)	criteria provided, single submitter
Select item 30085530.	NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) GRCh37: Chr10:76602922 GRCh38: Chr10:74843164	KAT6B	R103C	KAT6B-Related Spectrum Disorders, not provided, Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 215387231.	NM_012330.4(KAT6B):c.308G>T (p.Arg103Leu) GRCh37: Chr10:76602923 GRCh38: Chr10:74843165	KAT6B	R103L	Genitopatellar syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 144468832.	NM_012330.4(KAT6B):c.310A>T (p.Asn104Tyr) GRCh37: Chr10:76602925 GRCh38: Chr10:74843167	KAT6B	N104Y	Genitopatellar syndrome	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 161038033.	NM_012330.4(KAT6B):c.311A>G (p.Asn104Ser) GRCh37: Chr10:76602926 GRCh38: Chr10:74843168	KAT6B	N104S	Genitopatellar syndrome	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 205500134.	NM_012330.4(KAT6B):c.338G>A (p.Arg113Lys) GRCh37: Chr10:76602953 GRCh38: Chr10:74843195	KAT6B	R113K	Genitopatellar syndrome	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 160298135.	NM_012330.4(KAT6B):c.354T>C (p.Leu118=) GRCh37: Chr10:76602969 GRCh38: Chr10:74843211	KAT6B		Genitopatellar syndrome	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 39316236.	NM_012330.4(KAT6B):c.355G>C (p.Glu119Gln) GRCh37: Chr10:76602970 GRCh38: Chr10:74843212	KAT6B	E119Q	not provided	Uncertain significance (Jan 25, 2017)	criteria provided, single submitter
Select item 104940037.	NM_012330.4(KAT6B):c.362C>T (p.Pro121Leu) GRCh37: Chr10:76602977 GRCh38: Chr10:74843219	KAT6B	P121L	not specified	Benign	no assertion criteria provided
Select item 114885038.	NM_012330.4(KAT6B):c.363G>A (p.Pro121=) GRCh37: Chr10:76602978 GRCh38: Chr10:74843220	KAT6B		Genitopatellar syndrome	Likely benign (Nov 7, 2020)	criteria provided, single submitter
Select item 49927539.	NM_012330.4(KAT6B):c.365A>G (p.Asn122Ser) GRCh37: Chr10:76602980 GRCh38: Chr10:74843222	KAT6B	N122S	Genitopatellar syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 30085640.	NM_012330.4(KAT6B):c.375C>T (p.Ser125=) GRCh37: Chr10:76602990 GRCh38: Chr10:74843232	KAT6B		Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome, not provided	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 200146741.	NM_012330.4(KAT6B):c.376C>A (p.Leu126Met) GRCh37: Chr10:76602991 GRCh38: Chr10:74843233	KAT6B	L126M	Genitopatellar syndrome	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 139969642.	NM_012330.4(KAT6B):c.385A>G (p.Ile129Val) GRCh37: Chr10:76603000 GRCh38: Chr10:74843242	KAT6B	I129V	Genitopatellar syndrome	Uncertain significance (Aug 15, 2021)	criteria provided, single submitter
Select item 169647543.	NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys) GRCh37: Chr10:76603003 GRCh38: Chr10:74843245	KAT6B	E130K	Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type	Uncertain significance (Jun 17, 2021)	criteria provided, single submitter
Select item 93162144.	NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp) GRCh37: Chr10:76603005 GRCh38: Chr10:74843247	KAT6B	E130D	Blepharophimosis - intellectual disability syndrome, SBBYS type	Uncertain significance (Dec 4, 2019)	criteria provided, single submitter
Select item 206201345.	NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg) GRCh37: Chr10:76603038 GRCh38: Chr10:74843280	KAT6B	S141R	Genitopatellar syndrome	Benign (Aug 31, 2022)	criteria provided, single submitter
Select item 130045946.	NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) GRCh37: Chr10:76603040 GRCh38: Chr10:74843282	KAT6B	T142I	Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome, not provided	Conflicting interpretations of pathogenicity (Jun 11, 2021)	criteria provided, conflicting interpretations
Select item 208203947.	NM_012330.4(KAT6B):c.427A>G (p.Thr143Ala) GRCh37: Chr10:76603042 GRCh38: Chr10:74843284	KAT6B	T143A	Inborn genetic diseases, Genitopatellar syndrome	Conflicting interpretations of pathogenicity (Mar 18, 2022)	criteria provided, conflicting interpretations
Select item 199329248.	NM_012330.4(KAT6B):c.428C>T (p.Thr143Ile) GRCh37: Chr10:76603043 GRCh38: Chr10:74843285	KAT6B	T143I	Genitopatellar syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 241351149.	NM_012330.4(KAT6B):c.431A>C (p.Asn144Thr) GRCh37: Chr10:76603046 GRCh38: Chr10:74843288	KAT6B	N144T	Genitopatellar syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 207216250.	NM_012330.4(KAT6B):c.441C>G (p.Ala147_Phe148=) GRCh37: Chr10:76603056 GRCh38: Chr10:74843298	KAT6B		Genitopatellar syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 151582051.	NM_012330.4(KAT6B):c.452G>A (p.Arg151Gln) GRCh37: Chr10:76603067 GRCh38: Chr10:74843309	KAT6B	R151Q	Genitopatellar syndrome	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 62048352.	NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter) GRCh37: Chr10:76603072 GRCh38: Chr10:74843314	KAT6B	R153*	not provided, Genitopatellar syndrome	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 97893053.	NM_012330.4(KAT6B):c.466dup (p.Ala156fs) GRCh37: Chr10:76603076-76603077 GRCh38: Chr10:74843318-74843319	KAT6B	A156fs	Intellectual disability	Pathogenic (Apr 20, 2020)	criteria provided, single submitter
Select item 113180154.	NM_012330.4(KAT6B):c.465G>A (p.Gly155=) GRCh37: Chr10:76603080 GRCh38: Chr10:74843322	KAT6B		Genitopatellar syndrome	Likely benign (Mar 23, 2020)	criteria provided, single submitter
Select item 219506055.	NM_012330.4(KAT6B):c.466G>A (p.Ala156Thr) GRCh37: Chr10:76603081 GRCh38: Chr10:74843323	KAT6B	A156T	Genitopatellar syndrome	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 119884156.	NM_012330.4(KAT6B):c.504C>T (p.Asp168=) GRCh37: Chr10:76603119 GRCh38: Chr10:74843361	KAT6B		not provided	Likely benign (Dec 10, 2020)	criteria provided, single submitter
Select item 166004157.	NM_012330.4(KAT6B):c.510G>A (p.Pro170=) GRCh37: Chr10:76603125 GRCh38: Chr10:74843367	KAT6B		Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome	Benign/Likely benign (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203783058.	NM_012330.4(KAT6B):c.513G>A (p.Gln171_Tyr172=) GRCh37: Chr10:76603128 GRCh38: Chr10:74843370	KAT6B		Genitopatellar syndrome	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 70731259.	NM_012330.4(KAT6B):c.519G>A (p.Arg173=) GRCh37: Chr10:76603134 GRCh38: Chr10:74843376	KAT6B		Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome	Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14047860.	NM_012330.4(KAT6B):c.527dup (p.Tyr176Ter) GRCh37: Chr10:76603141-76603142 GRCh38: Chr10:74843383-74843384	KAT6B	Y176*	not provided	not provided	no assertion provided
Select item 139356861.	NM_012330.4(KAT6B):c.530G>A (p.Gly177Glu) GRCh37: Chr10:76603145 GRCh38: Chr10:74843387	KAT6B	G177E	Genitopatellar syndrome	Uncertain significance (Sep 9, 2021)	criteria provided, single submitter
Select item 207815762.	NM_012330.4(KAT6B):c.550G>A (p.Ala184Thr) GRCh37: Chr10:76603165 GRCh38: Chr10:74843407	KAT6B	A184T	Genitopatellar syndrome	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 212576463.	NM_012330.4(KAT6B):c.552A>C (p.Ala184_Pro185=) GRCh37: Chr10:76603167 GRCh38: Chr10:74843409	KAT6B	H5P	Genitopatellar syndrome	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 242944764.	NM_012330.4(KAT6B):c.565A>T (p.Ser189Cys) GRCh37: Chr10:76603180 GRCh38: Chr10:74843422	KAT6B	S189C	Developmental delay	Uncertain significance	no assertion criteria provided
Select item 205527465.	NM_012330.4(KAT6B):c.570A>G (p.Ala190_Phe191=) GRCh37: Chr10:76603185 GRCh38: Chr10:74843427	KAT6B	H11R	Genitopatellar syndrome	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 206491466.	NM_012330.4(KAT6B):c.577T>C (p.Ser193Pro) GRCh37: Chr10:76603192 GRCh38: Chr10:74843434	KAT6B	S193P	Genitopatellar syndrome	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 201369567.	NM_012330.4(KAT6B):c.579C>A (p.Ser193_Ser194=) GRCh37: Chr10:76603194 GRCh38: Chr10:74843436	KAT6B	P14H	Genitopatellar syndrome	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 219731368.	NM_012330.4(KAT6B):c.582G>A (p.Ser194_Leu195=) GRCh37: Chr10:76603197 GRCh38: Chr10:74843439	KAT6B	R15H	Genitopatellar syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 169630369.	NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala) GRCh37: Chr10:76603201 GRCh38: Chr10:74843443	KAT6B	P196A	not specified, Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171458470.	NM_012330.4(KAT6B):c.592G>C (p.Val198Leu) GRCh37: Chr10:76603207 GRCh38: Chr10:74843449	KAT6B	V198L	Genitopatellar syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 156153871.	NM_012330.4(KAT6B):c.603A>G (p.Leu201=) GRCh37: Chr10:76603218 GRCh38: Chr10:74843460	KAT6B	Y22C	Genitopatellar syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 154372372.	NM_012330.4(KAT6B):c.609T>C (p.His203=) GRCh37: Chr10:76603224 GRCh38: Chr10:74843466	KAT6B	M24T	Genitopatellar syndrome	Likely benign (Jul 4, 2021)	criteria provided, single submitter
Select item 137844073.	NM_012330.4(KAT6B):c.621+6C>T GRCh37: Chr10:76603242 GRCh38: Chr10:74843484	KAT6B		Genitopatellar syndrome	Uncertain significance (Nov 24, 2021)	criteria provided, single submitter
Select item 207235574.	NM_012330.4(KAT6B):c.621+7G>A GRCh37: Chr10:76603243 GRCh38: Chr10:74843485	KAT6B		Genitopatellar syndrome	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 123045175.	NM_012330.4(KAT6B):c.621+40C>A GRCh37: Chr10:76603276 GRCh38: Chr10:74843518	KAT6B		not provided	Benign (Dec 29, 2019)	criteria provided, single submitter
Select item 118758576.	NM_012330.4(KAT6B):c.621+55G>A GRCh37: Chr10:76603291 GRCh38: Chr10:74843533	KAT6B		not provided	Likely benign (Jun 28, 2018)	criteria provided, single submitter
Select item 56157977.	NM_012330.4(KAT6B):c.621+246C>T GRCh37: Chr10:76603482 GRCh38: Chr10:74843724	KAT6B		not provided	Benign (Jun 16, 2018)	criteria provided, single submitter
Select item 126032678.	NM_012330.4(KAT6B):c.621+299G>A GRCh37: Chr10:76603535 GRCh38: Chr10:74843777	KAT6B		not provided	Benign (Jun 24, 2018)	criteria provided, single submitter
Select item 118433579.	NM_012330.4(KAT6B):c.622-53842A>G GRCh37: Chr10:76665886 GRCh38: Chr10:74906128	KAT6B		Genitopatellar syndrome	Uncertain significance (Jun 29, 2020)	criteria provided, single submitter
Select item 56157780.	NM_012330.4(KAT6B):c.622-49C>A GRCh37: Chr10:76719679 GRCh38: Chr10:74959921	KAT6B		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 76336281.	NM_012330.4(KAT6B):c.622-7G>A GRCh37: Chr10:76719721 GRCh38: Chr10:74959963	KAT6B		Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome, Genitopatellar syndrome	Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180479482.	NM_012330.4(KAT6B):c.622-4A>G GRCh37: Chr10:76719724 GRCh38: Chr10:74959966	KAT6B		not specified	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 61869483.	NM_012330.4(KAT6B):c.625C>T (p.Arg209Cys) GRCh37: Chr10:76719731 GRCh38: Chr10:74959973	KAT6B	R209C	not provided, Genitopatellar syndrome	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 207835984.	NM_012330.4(KAT6B):c.626G>A (p.Arg209His) GRCh37: Chr10:76719732 GRCh38: Chr10:74959974	KAT6B	V30M, R209H	Genitopatellar syndrome	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 197698585.	NM_012330.4(KAT6B):c.628G>A (p.Ala210Thr) GRCh37: Chr10:76719734 GRCh38: Chr10:74959976	KAT6B	A210T	Genitopatellar syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 147200286.	NM_012330.4(KAT6B):c.643A>G (p.Ile215Val) GRCh37: Chr10:76719749 GRCh38: Chr10:74959991	KAT6B	I215V	Genitopatellar syndrome	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 171590487.	NM_012330.4(KAT6B):c.673T>G (p.Ser225Ala) GRCh37: Chr10:76719779 GRCh38: Chr10:74960021	KAT6B	N45K, S225A	Genitopatellar syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 141632688.	NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) GRCh37: Chr10:76719785 GRCh38: Chr10:74960027	KAT6B	R227C	Genitopatellar syndrome, Inborn genetic diseases, Blepharophimosis - intellectual disability syndrome, SBBYS type, Genitopatellar syndrome	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 125719489.	NM_012330.4(KAT6B):c.699A>G (p.Glu233=) GRCh37: Chr10:76719805 GRCh38: Chr10:74960047	KAT6B	N54S	Genitopatellar syndrome, not provided, Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome, SBBYS type	Benign/Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42292190.	NM_012330.4(KAT6B):c.708_709del (p.Ala238fs) GRCh37: Chr10:76719814-76719815 GRCh38: Chr10:74960056-74960057	KAT6B	A238fs, L57fs	not provided	Pathogenic (Jan 5, 2017)	criteria provided, single submitter
Select item 118849791.	NM_012330.4(KAT6B):c.717T>C (p.Asp239=) GRCh37: Chr10:76719823 GRCh38: Chr10:74960065	KAT6B	I60T	not provided, Genitopatellar syndrome	Likely benign (Jul 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116942292.	NM_012330.4(KAT6B):c.730+7T>A GRCh37: Chr10:76719843 GRCh38: Chr10:74960085	KAT6B		not provided, Genitopatellar syndrome	Benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156454293.	NM_012330.4(KAT6B):c.730+15T>C GRCh37: Chr10:76719851 GRCh38: Chr10:74960093	KAT6B		Genitopatellar syndrome	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 196995494.	NM_012330.4(KAT6B):c.730+19A>G GRCh37: Chr10:76719855 GRCh38: Chr10:74960097	KAT6B		Genitopatellar syndrome	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 56158095.	NM_012330.4(KAT6B):c.730+204T>C GRCh37: Chr10:76720040 GRCh38: Chr10:74960282	KAT6B		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 56158196.	NM_012330.4(KAT6B):c.730+245C>T GRCh37: Chr10:76720081 GRCh38: Chr10:74960323	KAT6B		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 133895497.	NM_012330.4(KAT6B):c.731-11del GRCh37: Chr10:76729403 GRCh38: Chr10:74969645	KAT6B		Genitopatellar syndrome, not provided	Benign/Likely benign (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125463198.	NM_012330.4(KAT6B):c.731-4A>G GRCh37: Chr10:76729414 GRCh38: Chr10:74969656	KAT6B		not provided	Likely benign (Dec 16, 2020)	criteria provided, single submitter
Select item 204896499.	NM_012330.4(KAT6B):c.735C>T (p.His245_Pro246=) GRCh37: Chr10:76729422 GRCh38: Chr10:74969664	KAT6B		Genitopatellar syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 1313741100.	NM_012330.4(KAT6B):c.748A>C (p.Lys250Gln) GRCh37: Chr10:76729435 GRCh38: Chr10:74969677	KAT6B	K250Q	not provided	Likely pathogenic (Apr 7, 2022)	criteria provided, single submitter

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