Full data view for gene KDM6B

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

86 entries on 1 page. Showing entries 1 - 86.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-268-8C>T r.(=) p.(=) Unknown - likely benign g.7748211C>T g.7844893C>T KDM6B(NM_001080424.2):c.-268-8C>T - KDM6B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165G>A r.(?) p.(Pro55=) Unknown - likely benign g.7749217G>A g.7845899G>A KDM6B(NM_001080424.2):c.165G>A (p.P55=) - KDM6B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.399C>G r.(?) p.(Ala133=) Unknown - likely benign g.7749558C>G g.7846240C>G KDM6B(NM_001080424.2):c.399C>G (p.A133=) - KDM6B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445C>T r.(?) p.(Arg149Ter) Unknown - VUS g.7749604C>T g.7846286C>T KDM6B(NM_001080424.2):c.445C>T (p.R149*) - KDM6B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.457-8A>C r.(=) p.(=) Unknown - likely benign g.7749710A>C g.7846392A>C KDM6B(NM_001080424.1):c.457-8A>C (p.(=)) - KDM6B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457-2A>C r.spl? p.? Unknown - likely benign g.7749716A>C g.7846398A>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 - - - - - - - - - - - - - - - - - - -
-?/. - c.457-2A>C r.spl? p.? Unknown - likely benign g.7749716A>C g.7846398A>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457-2_457del r.spl? p.? Unknown - likely benign g.7749716_7749718del g.7846398_7846400del KDM6B(NM_001080424.1):c.457-2_457del (p.?) - KDM6B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.501C>G r.(?) p.(Ala167=) Unknown - likely benign g.7749762C>G g.7846444C>G KDM6B(NM_001080424.2):c.501C>G (p.A167=) - KDM6B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567A>G r.(?) p.(Gly189=) Unknown - likely benign g.7749914A>G - KDM6B(NM_001080424.2):c.567A>G (p.G189=) - chr17_008033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575G>C r.(?) p.(Arg192Pro) Unknown - VUS g.7749922G>C g.7846604G>C KDM6B(NM_001080424.2):c.575G>C (p.R192P) - KDM6B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607C>G r.(?) p.(Pro203Ala) Unknown - likely benign g.7749954C>G g.7846636C>G KDM6B(NM_001080424.1):c.607C>G (p.(Pro203Ala)) - KDM6B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.625G>T r.(?) p.(Val209Leu) Unknown - likely benign g.7749972G>T g.7846654G>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 - - - - - - - - - - - - - - - - - - -
-?/. - c.625G>T r.(?) p.(Val209Leu) Unknown - likely benign g.7749972G>T g.7846654G>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.654_655del r.(?) p.(Glu220GlyfsTer16) Unknown - VUS g.7750001_7750002del g.7846683_7846684del - - KDM6B_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.783_791del r.(?) p.(Pro262_Pro264del) Unknown - benign g.7750208_7750216del g.7846890_7846898del KDM6B(NM_001080424.2):c.783_791delACCACCACC (p.P262_P264del) - KDM6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.783_791del r.(?) p.(Pro262_Pro264del) Unknown - benign g.7750208_7750216del g.7846890_7846898del KDM6B(NM_001080424.2):c.783_791delACCACCACC (p.P262_P264del) - KDM6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.783_791del r.(?) p.(Pro262_Pro264del) Unknown - benign g.7750208_7750216del - KDM6B(NM_001080424.2):c.783_791delACCACCACC (p.P262_P264del) - KDM6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.783_791dup r.(?) p.(Pro262_Pro264dup) Unknown - benign g.7750208_7750216dup g.7846890_7846898dup 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 - - - - - - - - - - - - - - - - - - -
-/. - c.783_791dup r.(?) p.(Pro262_Pro264dup) Unknown - benign g.7750208_7750216dup g.7846890_7846898dup 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783_791dup r.(?) p.(Pro262_Pro264dup) Unknown - likely benign g.7750208_7750216dup g.7846890_7846898dup 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.786_791del r.(?) p.(Pro263_Pro264del) Unknown - benign g.7750211_7750216del g.7846893_7846898del 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.786_791del r.(?) p.(Pro263_Pro264del) Unknown - likely benign g.7750211_7750216del g.7846893_7846898del 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.786_791del r.(?) p.(Pro263_Pro264del) Unknown - likely benign g.7750211_7750216del g.7846893_7846898del 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 - - - - - - - - - - - - - - - - - - -
?/. - c.786_791dup r.(?) p.(Pro263_Pro264dup) Unknown - VUS g.7750211_7750216dup g.7846893_7846898dup 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 - - - - - - - - - - - - - - - - - - -
-/. - c.786_791dup r.(?) p.(Pro263_Pro264dup) Unknown - benign g.7750211_7750216dup g.7846893_7846898dup 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.786_791dup r.(?) p.(Pro263_Pro264dup) Unknown - benign g.7750211_7750216dup g.7846893_7846898dup 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788_793dup r.(?) p.(Pro263_Pro264dup) Unknown - likely benign g.7750213_7750218dup g.7846895_7846900dup KDM6B(NM_001080424.1):c.786_787insCCACCC (p.(Pro261_Pro262dup)), KDM6B(NM_001080424.2):c.788_793dupCACCCC (p.P263_P264dup) - KDM6B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788_793dup r.(?) p.(Pro263_Pro264dup) Unknown - likely benign g.7750213_7750218dup - KDM6B(NM_001080424.1):c.786_787insCCACCC (p.(Pro261_Pro262dup)), KDM6B(NM_001080424.2):c.788_793dupCACCCC (p.P263_P264dup) - KDM6B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789_791del r.(?) p.(Pro264del) Unknown - benign g.7750214_7750216del g.7846896_7846898del 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789_791del r.(?) p.(Pro264del) Unknown - likely benign g.7750214_7750216del g.7846896_7846898del 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789_791dup r.(?) p.(Pro264dup) Unknown - benign g.7750214_7750216dup g.7846896_7846898dup 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789_791dup r.(?) p.(Pro264dup) Unknown - benign g.7750214_7750216dup g.7846896_7846898dup 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789_791dup r.(?) p.(Pro264dup) Unknown - likely benign g.7750214_7750216dup g.7846896_7846898dup 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.807T>C r.(?) p.(Ala269=) Unknown - benign g.7750232T>C g.7846914T>C KDM6B(NM_001080424.2):c.807T>C (p.A269=) - KDM6B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1019G>C r.(?) p.(Arg340Pro) Unknown - likely benign g.7750532G>C g.7847214G>C KDM6B(NM_001080424.1):c.1019G>C (p.(Arg340Pro)) - KDM6B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1060C>T r.(?) p.(Arg354Cys) Unknown - VUS g.7750573C>T - KDM6B(NM_001080424.2):c.1060C>T (p.R354C) - chr17_008034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1085_1088del r.(?) p.(Glu362AlafsTer124) Unknown - VUS g.7750598_7750601del g.7847280_7847283del KDM6B(NM_001080424.2):c.1085_1088delAGAG (p.E362Afs*124) - KDM6B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1229_1233dup r.(?) p.(Gly412SerfsTer77) Unknown - pathogenic g.7750742_7750746dup - - - KDM6B_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1235G>T r.(?) p.(Gly412Val) Unknown - likely benign g.7750748G>T g.7847430G>T KDM6B(NM_001080424.1):c.1235G>T (p.(Gly412Val)) - KDM6B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1258-17T>C r.(=) p.(=) Unknown - benign g.7750847T>C g.7847529T>C KDM6B(NM_001080424.2):c.1258-17T>C - KDM6B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1330A>G r.(?) p.(Ser444Gly) Unknown - likely benign g.7750936A>G g.7847618A>G KDM6B(NM_001080424.1):c.1330A>G (p.(Ser444Gly)) - KDM6B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1416_1417del r.(?) p.(Cys473Serfs*36) Unknown - pathogenic g.7751022_7751023del g.7847704_7847705del - - KDM6B_000071 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
-/. - c.1538G>C r.(?) p.(Arg513Pro) Unknown - benign g.7751144G>C g.7847826G>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1538G>C r.(?) p.(Arg513Pro) Unknown - likely benign g.7751144G>C g.7847826G>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1543G>C r.(?) p.(Ala515Pro) Unknown - likely benign g.7751149G>C g.7847831G>C KDM6B(NM_001080424.1):c.1543G>C (p.(Ala515Pro)) - KDM6B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1556T>C r.(?) p.(Leu519Pro) Unknown - likely benign g.7751162T>C g.7847844T>C KDM6B(NM_001080424.1):c.1556T>C (p.(Leu519Pro)) - KDM6B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1562A>C r.(?) p.(His521Pro) Unknown - likely benign g.7751168A>C - KDM6B(NM_001080424.2):c.1562A>C (p.H521P) - KDM6B_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1925C>T r.(?) p.(Pro642Leu) Unknown - likely benign g.7751531C>T g.7848213C>T KDM6B(NM_001080424.1):c.1925C>T (p.(Pro642Leu)), KDM6B(NM_001080424.2):c.1925C>T (p.P642L) - KDM6B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1925C>T r.(?) p.(Pro642Leu) Unknown - likely benign g.7751531C>T - KDM6B(NM_001080424.1):c.1925C>T (p.(Pro642Leu)), KDM6B(NM_001080424.2):c.1925C>T (p.P642L) - KDM6B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1996C>T r.(?) p.(Arg666Ter) Unknown - likely pathogenic g.7751602C>T - - - chr17_008035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2172G>A r.(?) p.(Pro724=) Unknown - benign g.7751778G>A g.7848460G>A KDM6B(NM_001080424.2):c.2172G>A (p.P724=) - KDM6B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2174T>C r.(?) p.(Leu725Pro) Unknown - likely benign g.7751780T>C g.7848462T>C KDM6B(NM_001080424.1):c.2174T>C (p.(Leu725Pro)) - KDM6B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2277_2285del r.(?) p.(Thr760_Thr762del) Unknown - likely benign g.7751883_7751891del g.7848565_7848573del KDM6B(NM_001080424.1):c.2253_2261del (p.(Thr755_Thr757del)) - KDM6B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2280_2285del r.(?) p.(Thr761_Thr762del) Unknown - likely benign g.7751886_7751891del g.7848568_7848573del KDM6B(NM_001080424.1):c.2256_2261del (p.(Thr755_Thr756del)) - KDM6B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2283_2285del r.(?) p.(Thr762del) Unknown - benign g.7751889_7751891del g.7848571_7848573del 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.2283_2285del r.(?) p.(Thr762del) Unknown - likely benign g.7751889_7751891del g.7848571_7848573del 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2283_2285dup r.(?) p.(Thr762dup) Unknown - likely benign g.7751889_7751891dup - KDM6B(NM_001080424.2):c.2283_2285dupCAC (p.T762dup) - chr17_008036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2600C>T r.(?) p.(Ser867Leu) Unknown - likely benign g.7752206C>T g.7848888C>T KDM6B(NM_001080424.1):c.2600C>T (p.(Ser867Leu)) - KDM6B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2652G>A r.(?) p.(Ala884=) Unknown - likely benign g.7752258G>A g.7848940G>A KDM6B(NM_001080424.2):c.2652G>A (p.A884=) - KDM6B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2656G>A r.(?) p.(Glu886Lys) Unknown - likely benign g.7752262G>A g.7848944G>A KDM6B(NM_001080424.2):c.2656G>A (p.E886K) - KDM6B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2677A>C r.(?) p.(Met893Leu) Unknown - likely benign g.7752283A>C g.7848965A>C KDM6B(NM_001080424.1):c.2677A>C (p.(Met893Leu)) - KDM6B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2680A>T r.(?) p.(Thr894Ser) Unknown - likely benign g.7752286A>T g.7848968A>T KDM6B(NM_001080424.1):c.2680A>T (p.(Thr894Ser)) - KDM6B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2685dup r.(?) p.(Thr896HisfsTer15) Unknown - likely benign g.7752291dup g.7848973dup KDM6B(NM_001080424.1):c.2685dup (p.(Thr896HisfsTer15)) - KDM6B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2686A>C r.(?) p.(Thr896Pro) Unknown - likely benign g.7752292A>C g.7848974A>C KDM6B(NM_001080424.1):c.2686A>C (p.(Thr896Pro)) - KDM6B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2686del r.(?) p.(Thr896ProfsTer19) Unknown - likely benign g.7752292del g.7848974del KDM6B(NM_001080424.1):c.2686del (p.(Thr896ProfsTer19)) - KDM6B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2690A>C r.(?) p.(Gln897Pro) Unknown - likely benign g.7752296A>C g.7848978A>C KDM6B(NM_001080424.1):c.2690A>C (p.(Gln897Pro)) - KDM6B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2690_2691del r.(?) p.(Gln897ProfsTer13) Unknown - likely benign g.7752296_7752297del g.7848978_7848979del KDM6B(NM_001080424.1):c.2690_2691del (p.(Gln897ProfsTer13)) - KDM6B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2694G>C r.(?) p.(Pro898=) Unknown - likely benign g.7752300G>C - KDM6B(NM_001080424.2):c.2694G>C (p.P898=) - chr17_008037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2700del r.(?) p.(Leu902TyrfsTer13) Unknown - likely benign g.7752306del g.7848988del KDM6B(NM_001080424.1):c.2700del (p.(Leu902TyrfsTer13)) - KDM6B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2701C>T r.(?) p.(Pro901Ser) Unknown - likely benign g.7752307C>T g.7848989C>T KDM6B(NM_001080424.1):c.2701C>T (p.(Pro901Ser)) - KDM6B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2716C>G r.(?) p.(Pro906Ala) Unknown - likely benign g.7752322C>G - KDM6B(NM_001080424.2):c.2716C>G (p.P906A) - chr17_008038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2718del r.(?) p.(Ala907LeufsTer8) Unknown - VUS g.7752324del g.7849006del KDM6B(NM_001080424.2):c.2718delT (p.A907Lfs*8) - KDM6B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2726C>A r.(?) p.(Ser909Tyr) Unknown - VUS g.7752332C>A g.7849014C>A KDM6B(NM_001080424.1):c.2726C>A (p.(Ser909Tyr)) - KDM6B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2903T>G r.(?) p.(Val968Gly) Unknown - likely benign g.7752509T>G - KDM6B(NM_001080424.2):c.2903T>G (p.V968G) - KDM6B_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2938_2940del r.(?) p.(Gln980del) Unknown - likely benign g.7752544_7752546del g.7849226_7849228del KDM6B(NM_001080424.1):c.2938_2940del (p.(Gln980del)) - KDM6B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3444T>G r.(?) p.(Asn1148Lys) Unknown - VUS g.7753142T>G g.7849824T>G KDM6B(NM_001080424.1):c.3444T>G (p.(Asn1148Lys)) - KDM6B_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4020_4021delinsAT r.(?) p.(Trp1340*) Unknown - pathogenic g.7754969_7754970delinsAT g.7851651_7851652delinsAT - - KDM6B_000072 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
-/. - c.4044G>A r.(?) p.(Leu1348=) Unknown - benign g.7754993G>A g.7851675G>A KDM6B(NM_001080424.2):c.4044G>A (p.L1348=) - KDM6B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4168C>T r.(?) p.(His1390Tyr) Unknown - VUS g.7755271C>T g.7851953C>T KDM6B(NM_001080424.2):c.4168C>T (p.H1390Y) - KDM6B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4188C>T r.(?) p.(Phe1396=) Unknown - likely benign g.7755291C>T g.7851973C>T KDM6B(NM_001080424.2):c.4188C>T (p.F1396=) - CYB5D1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4193C>A r.(?) p.(Ser1398Tyr) Unknown - VUS g.7755296C>A g.7851978C>A - - CYB5D1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4202_4204del r.(?) p.(Ile1401del) Unknown - VUS g.7755305_7755307del g.7851987_7851989del KDM6B(NM_001080424.2):c.4202_4204delTCA (p.I1401del) - CYB5D1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4590del r.(?) p.(Asp1531ThrfsTer5) Unknown - VUS g.7755934del g.7852616del KDM6B(NM_001080424.2):c.4590delC (p.D1531Tfs*5) - CYB5D1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1572G>C r.(=) p.(=) Unknown - likely benign g.7758411G>C g.7855093G>C TMEM88(NM_203411.1):c.19G>C (p.(Ala7Pro)) - CYB5D1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5993C>T r.(=) p.(=) Unknown - VUS g.7762832C>T g.7859514C>T CYB5D1(NM_144607.4):c.589C>T (p.(Arg197Trp)) - CYB5D1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend