All transcript variants in gene KDM6B

Information The variants shown are described using the NM_001080424.1 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-268-8C>T likely benign r.(=) p.(=) g.7748211C>T - KDM6B(NM_001080424.2):c.-268-8C>T - KDM6B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.165G>A likely benign r.(?) p.(=) g.7749217G>A - KDM6B(NM_001080424.2):c.165G>A (p.P55=) - KDM6B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.399C>G likely benign r.(?) p.(=) g.7749558C>G - KDM6B(NM_001080424.2):c.399C>G (p.A133=) - KDM6B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.445C>T VUS r.(?) p.(Arg149*) g.7749604C>T - KDM6B(NM_001080424.2):c.445C>T (p.R149*) - KDM6B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.457-8A>C likely benign r.(=) p.(=) g.7749710A>C - KDM6B(NM_001080424.1):c.457-8A>C (p.(=)) - KDM6B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.457-2A>C likely benign r.spl? p.? g.7749716A>C - KDM6B(NM_001080424.1):c.457-2A>C (p.?), KDM6B(NM_001080424.2):c.457-2A>C - KDM6B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.457-2A>C likely benign r.spl? p.? g.7749716A>C - KDM6B(NM_001080424.1):c.457-2A>C (p.?), KDM6B(NM_001080424.2):c.457-2A>C - KDM6B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.457-2_457del likely benign r.spl? p.? g.7749716_7749718del - KDM6B(NM_001080424.1):c.457-2_457del (p.?) - KDM6B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.501C>G likely benign r.(?) p.(=) g.7749762C>G - KDM6B(NM_001080424.2):c.501C>G (p.A167=) - KDM6B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.575G>C VUS r.(?) p.(Arg192Pro) g.7749922G>C - KDM6B(NM_001080424.2):c.575G>C (p.R192P) - KDM6B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.607C>G likely benign r.(?) p.(Pro203Ala) g.7749954C>G - KDM6B(NM_001080424.1):c.607C>G (p.(Pro203Ala)) - KDM6B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.625G>T likely benign r.(?) p.(Val209Leu) g.7749972G>T - KDM6B(NM_001080424.1):c.625G>T (p.(Val209Leu)), KDM6B(NM_001080424.2):c.625G>T (p.V209L) - KDM6B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.625G>T likely benign r.(?) p.(Val209Leu) g.7749972G>T - KDM6B(NM_001080424.1):c.625G>T (p.(Val209Leu)), KDM6B(NM_001080424.2):c.625G>T (p.V209L) - KDM6B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.654_655del VUS r.(?) p.(Glu220Glyfs*16) g.7750001_7750002del - - - chr17_008050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.783_791del benign r.(?) p.(Pro262_Pro264del) g.7750208_7750216del - KDM6B(NM_001080424.2):c.783_791delACCACCACC (p.P262_P264del) - KDM6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.783_791del benign r.(?) p.(Pro262_Pro264del) g.7750208_7750216del - KDM6B(NM_001080424.2):c.783_791delACCACCACC (p.P262_P264del) - KDM6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.783_791dup benign r.(?) p.(Pro262_Pro264dup) g.7750208_7750216dup - KDM6B(NM_001080424.1):c.752_753insACCACCACC (p.(Leu251_Pro252insProProPro)), KDM6B(NM_001080424.2):c.783_791dupACCACCACC (p.P262_P264dup) - KDM6B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.783_791dup benign r.(?) p.(Pro262_Pro264dup) g.7750208_7750216dup - KDM6B(NM_001080424.1):c.752_753insACCACCACC (p.(Leu251_Pro252insProProPro)), KDM6B(NM_001080424.2):c.783_791dupACCACCACC (p.P262_P264dup) - KDM6B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.783_791dup likely benign r.(?) p.(Pro262_Pro264dup) g.7750208_7750216dup - KDM6B(NM_001080424.1):c.752_753insACCACCACC (p.(Leu251_Pro252insProProPro)), KDM6B(NM_001080424.2):c.783_791dupACCACCACC (p.P262_P264dup) - KDM6B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.786_791del benign r.(?) p.(Pro263_Pro264del) g.7750211_7750216del - KDM6B(NM_001080424.1):c.756_761del (p.(Pro255_Pro256del)), KDM6B(NM_001080424.2):c.786_791delACCACC (p.P263_P264del) - KDM6B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.786_791del likely benign r.(?) p.(Pro263_Pro264del) g.7750211_7750216del - KDM6B(NM_001080424.1):c.756_761del (p.(Pro255_Pro256del)), KDM6B(NM_001080424.2):c.786_791delACCACC (p.P263_P264del) - KDM6B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.786_791del likely benign r.(?) p.(Pro263_Pro264del) g.7750211_7750216del - KDM6B(NM_001080424.1):c.756_761del (p.(Pro255_Pro256del)), KDM6B(NM_001080424.2):c.786_791delACCACC (p.P263_P264del) - KDM6B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.786_791dup VUS r.(?) p.(Pro263_Pro264dup) g.7750211_7750216dup - KDM6B(NM_001080424.1):c.753_758dup (p.(Pro252_Pro253dup)), KDM6B(NM_001080424.2):c.786_791dupACCACC (p.P263_P264dup) - KDM6B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.786_791dup benign r.(?) p.(Pro263_Pro264dup) g.7750211_7750216dup - KDM6B(NM_001080424.1):c.753_758dup (p.(Pro252_Pro253dup)), KDM6B(NM_001080424.2):c.786_791dupACCACC (p.P263_P264dup) - KDM6B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.786_791dup benign r.(?) p.(Pro263_Pro264dup) g.7750211_7750216dup - KDM6B(NM_001080424.1):c.753_758dup (p.(Pro252_Pro253dup)), KDM6B(NM_001080424.2):c.786_791dupACCACC (p.P263_P264dup) - KDM6B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.788_793dup likely benign r.(?) p.(Pro263_Pro264dup) g.7750213_7750218dup - KDM6B(NM_001080424.1):c.786_787insCCACCC (p.(Pro261_Pro262dup)) - chr17_008051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.789_791del benign r.(?) p.(Pro264del) g.7750214_7750216del - KDM6B(NM_001080424.1):c.753_755del (p.(Pro253del)), KDM6B(NM_001080424.2):c.789_791delACC (p.P264del) - KDM6B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.789_791del likely benign r.(?) p.(Pro264del) g.7750214_7750216del - KDM6B(NM_001080424.1):c.753_755del (p.(Pro253del)), KDM6B(NM_001080424.2):c.789_791delACC (p.P264del) - KDM6B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.789_791dup likely benign r.(?) p.(Pro264dup) g.7750214_7750216dup - KDM6B(NM_001080424.1):c.752_753insACC (p.(Leu251_Pro252insPro)), KDM6B(NM_001080424.2):c.789_791dupACC (p.P264dup) - KDM6B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.789_791dup benign r.(?) p.(Pro264dup) g.7750214_7750216dup - KDM6B(NM_001080424.1):c.752_753insACC (p.(Leu251_Pro252insPro)), KDM6B(NM_001080424.2):c.789_791dupACC (p.P264dup) - KDM6B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.789_791dup likely benign r.(?) p.(Pro264dup) g.7750214_7750216dup - KDM6B(NM_001080424.1):c.752_753insACC (p.(Leu251_Pro252insPro)), KDM6B(NM_001080424.2):c.789_791dupACC (p.P264dup) - KDM6B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.807T>C benign r.(?) p.(=) g.7750232T>C - KDM6B(NM_001080424.2):c.807T>C (p.A269=) - KDM6B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1019G>C likely benign r.(?) p.(Arg340Pro) g.7750532G>C - KDM6B(NM_001080424.1):c.1019G>C (p.(Arg340Pro)) - KDM6B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1085_1088del VUS r.(?) p.(Glu362Alafs*124) g.7750598_7750601del - KDM6B(NM_001080424.2):c.1085_1088delAGAG (p.E362Afs*124) - KDM6B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1235G>T likely benign r.(?) p.(Gly412Val) g.7750748G>T - KDM6B(NM_001080424.1):c.1235G>T (p.(Gly412Val)) - KDM6B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1258-17T>C benign r.(=) p.(=) g.7750847T>C - KDM6B(NM_001080424.2):c.1258-17T>C - KDM6B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1330A>G likely benign r.(?) p.(Ser444Gly) g.7750936A>G - KDM6B(NM_001080424.1):c.1330A>G (p.(Ser444Gly)) - KDM6B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1538G>C benign r.(?) p.(Arg513Pro) g.7751144G>C - KDM6B(NM_001080424.1):c.1538G>C (p.(Arg513Pro)), KDM6B(NM_001080424.2):c.1538G>C (p.R513P) - KDM6B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1538G>C likely benign r.(?) p.(Arg513Pro) g.7751144G>C - KDM6B(NM_001080424.1):c.1538G>C (p.(Arg513Pro)), KDM6B(NM_001080424.2):c.1538G>C (p.R513P) - KDM6B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1543G>C likely benign r.(?) p.(Ala515Pro) g.7751149G>C - KDM6B(NM_001080424.1):c.1543G>C (p.(Ala515Pro)) - KDM6B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1556T>C likely benign r.(?) p.(Leu519Pro) g.7751162T>C - KDM6B(NM_001080424.1):c.1556T>C (p.(Leu519Pro)) - KDM6B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1925C>T likely benign r.(?) p.(Pro642Leu) g.7751531C>T - KDM6B(NM_001080424.1):c.1925C>T (p.(Pro642Leu)) - KDM6B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2172G>A benign r.(?) p.(=) g.7751778G>A - KDM6B(NM_001080424.2):c.2172G>A (p.P724=) - KDM6B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2174T>C likely benign r.(?) p.(Leu725Pro) g.7751780T>C - KDM6B(NM_001080424.1):c.2174T>C (p.(Leu725Pro)) - KDM6B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2277_2285del likely benign r.(?) p.(Thr760_Thr762del) g.7751883_7751891del - KDM6B(NM_001080424.1):c.2253_2261del (p.(Thr755_Thr757del)) - KDM6B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2280_2285del likely benign r.(?) p.(Thr761_Thr762del) g.7751886_7751891del - KDM6B(NM_001080424.1):c.2256_2261del (p.(Thr755_Thr756del)) - KDM6B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2283_2285del benign r.(?) p.(Thr762del) g.7751889_7751891del - KDM6B(NM_001080424.1):c.2256_2258del (p.(Thr754del)), KDM6B(NM_001080424.2):c.2283_2285delCAC (p.T762del) - KDM6B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2283_2285del likely benign r.(?) p.(Thr762del) g.7751889_7751891del - KDM6B(NM_001080424.1):c.2256_2258del (p.(Thr754del)), KDM6B(NM_001080424.2):c.2283_2285delCAC (p.T762del) - KDM6B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2600C>T likely benign r.(?) p.(Ser867Leu) g.7752206C>T - KDM6B(NM_001080424.1):c.2600C>T (p.(Ser867Leu)) - KDM6B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2652G>A likely benign r.(?) p.(=) g.7752258G>A - KDM6B(NM_001080424.2):c.2652G>A (p.A884=) - KDM6B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2656G>A likely benign r.(?) p.(Glu886Lys) g.7752262G>A - KDM6B(NM_001080424.2):c.2656G>A (p.E886K) - KDM6B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2677A>C likely benign r.(?) p.(Met893Leu) g.7752283A>C - KDM6B(NM_001080424.1):c.2677A>C (p.(Met893Leu)) - KDM6B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2680A>T likely benign r.(?) p.(Thr894Ser) g.7752286A>T - KDM6B(NM_001080424.1):c.2680A>T (p.(Thr894Ser)) - KDM6B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2685dup likely benign r.(?) p.(Thr896Hisfs*15) g.7752291dup - KDM6B(NM_001080424.1):c.2685dup (p.(Thr896HisfsTer15)) - KDM6B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2686A>C likely benign r.(?) p.(Thr896Pro) g.7752292A>C - KDM6B(NM_001080424.1):c.2686A>C (p.(Thr896Pro)) - KDM6B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2686del likely benign r.(?) p.(Thr896Profs*19) g.7752292del - KDM6B(NM_001080424.1):c.2686del (p.(Thr896ProfsTer19)) - KDM6B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2690A>C likely benign r.(?) p.(Gln897Pro) g.7752296A>C - KDM6B(NM_001080424.1):c.2690A>C (p.(Gln897Pro)) - KDM6B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2690_2691del likely benign r.(?) p.(Gln897Profs*13) g.7752296_7752297del - KDM6B(NM_001080424.1):c.2690_2691del (p.(Gln897ProfsTer13)) - KDM6B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2700del likely benign r.(?) p.(Leu902Tyrfs*13) g.7752306del - KDM6B(NM_001080424.1):c.2700del (p.(Leu902TyrfsTer13)) - KDM6B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2701C>T likely benign r.(?) p.(Pro901Ser) g.7752307C>T - KDM6B(NM_001080424.1):c.2701C>T (p.(Pro901Ser)) - KDM6B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2718del VUS r.(?) p.(Ala907Leufs*8) g.7752324del - KDM6B(NM_001080424.2):c.2718delT (p.A907Lfs*8) - KDM6B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2726C>A VUS r.(?) p.(Ser909Tyr) g.7752332C>A - KDM6B(NM_001080424.1):c.2726C>A (p.(Ser909Tyr)) - KDM6B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2938_2940del likely benign r.(?) p.(Gln980del) g.7752544_7752546del - KDM6B(NM_001080424.1):c.2938_2940del (p.(Gln980del)) - KDM6B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3444T>G VUS r.(?) p.(Asn1148Lys) g.7753142T>G - KDM6B(NM_001080424.1):c.3444T>G (p.(Asn1148Lys)) - KDM6B_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.4044G>A benign r.(?) p.(=) g.7754993G>A - KDM6B(NM_001080424.2):c.4044G>A (p.L1348=) - KDM6B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.4168C>T VUS r.(?) p.(His1390Tyr) g.7755271C>T - KDM6B(NM_001080424.2):c.4168C>T (p.H1390Y) - KDM6B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.4188C>T likely benign r.(?) p.(=) g.7755291C>T - KDM6B(NM_001080424.2):c.4188C>T (p.F1396=) - CYB5D1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.4202_4204del VUS r.(?) p.(Ile1401del) g.7755305_7755307del - KDM6B(NM_001080424.2):c.4202_4204delTCA (p.I1401del) - chr17_008236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.4590del VUS r.(?) p.(Asp1531Thrfs*5) g.7755934del - KDM6B(NM_001080424.2):c.4590delC (p.D1531Tfs*5) - CYB5D1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*1572G>C likely benign r.(=) p.(=) g.7758411G>C - TMEM88(NM_203411.1):c.19G>C (p.(Ala7Pro)) - CYB5D1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*5993C>T VUS r.(=) p.(=) g.7762832C>T - CYB5D1(NM_144607.4):c.589C>T (p.(Arg197Trp)) - CYB5D1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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