1 |
KDM6A |
NM_001291415.1(KDM6A):c.2988+1G>C |
SNV |
Pathogenic |
431139 |
rs1135401809 |
X:44936072-44936072 |
X:45076827-45076827 |
2 |
KDM6A |
NM_021140.3(KDM6A):c.2101_2102TC[4] (p.His702fs) |
short repeat |
Pathogenic |
471947 |
rs1556328781 |
X:44928999-44929000 |
X:45069754-45069755 |
3 |
KDM6A |
NM_021140.3(KDM6A):c.3016C>T (p.Gln1006Ter) |
SNV |
Pathogenic |
471948 |
rs1556341546 |
X:44938468-44938468 |
X:45079223-45079223 |
4 |
KDM6A |
NM_021140.3(KDM6A):c.2462_2463del (p.Ser821fs) |
deletion |
Pathogenic |
539319 |
rs1556330304 |
X:44929362-44929363 |
X:45070117-45070118 |
5 |
KDM6A |
NM_021140.3(KDM6A):c.2832+1G>A |
SNV |
Pathogenic |
545065 |
rs1135401809 |
X:44936072-44936072 |
X:45076827-45076827 |
6 |
KDM6A |
NM_021140.3(KDM6A):c.1392_1395TCAT[3] (p.Trp467fs) |
short repeat |
Pathogenic |
559639 |
rs1556311265 |
X:44920630-44920631 |
X:45061385-45061386 |
7 |
KDM6A |
NM_021140.3(KDM6A):c.2646_2647dup (p.Pro883fs) |
duplication |
Pathogenic |
637050 |
|
X:44929545-44929546 |
X:45070300-45070301 |
8 |
KDM6A |
NM_021140.3(KDM6A):c.4051C>T (p.Arg1351Ter) |
SNV |
Pathogenic |
644617 |
|
X:44969369-44969369 |
X:45110124-45110124 |
9 |
KDM6A |
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) |
SNV |
Pathogenic |
692010 |
|
X:44879904-44879904 |
X:45020659-45020659 |
10 |
KDM6A |
NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs) |
deletion |
Pathogenic |
692059 |
|
X:44938492-44938492 |
X:45079247-45079247 |
11 |
KDM6A |
NM_021140.3(KDM6A):c.3351_3353TCT[1] (p.Leu1119del) |
short repeat |
Pathogenic |
39994 |
rs398122829 |
X:44942771-44942773 |
X:45083526-45083528 |
12 |
KDM6A |
nsv1067838 |
deletion |
Pathogenic |
29935 |
|
X:44866302-44912718 |
X:45007057-45053473 |
13 |
KDM6A |
NM_021140.3(KDM6A):c.3717G>A (p.Trp1239Ter) |
SNV |
Pathogenic |
39992 |
rs398122929 |
X:44949156-44949156 |
X:45089911-45089911 |
14 |
KDM6A |
NM_021140.3(KDM6A):c.1555C>T (p.Arg519Ter) |
SNV |
Pathogenic |
39993 |
rs397514628 |
X:44922694-44922694 |
X:45063449-45063449 |
15 |
KDM6A |
NM_021140.3(KDM6A):c.1909_1912del (p.Ser637fs) |
deletion |
Pathogenic |
91403 |
rs398122969 |
X:44923045-44923048 |
X:45063800-45063803 |
16 |
KDM6A |
NM_001291415.2(KDM6A):c.2608del (p.Ser870fs) |
deletion |
Pathogenic |
861724 |
|
X:44929351-44929351 |
X:45070106-45070106 |
17 |
KDM6A |
NM_021140.3(KDM6A):c.1543del (p.Val515fs) |
deletion |
Pathogenic |
211254 |
rs797045642 |
X:44922682-44922682 |
X:45063437-45063437 |
18 |
KDM6A |
NM_021140.3(KDM6A):c.2515_2518del (p.Asn839fs) |
deletion |
Pathogenic |
190247 |
rs786205676 |
X:44929412-44929415 |
X:45070167-45070170 |
19 |
KDM6A |
NM_021140.3(KDM6A):c.2832+2dup |
duplication |
Likely pathogenic |
211256 |
rs797045643 |
X:44936072-44936073 |
X:45076827-45076828 |
20 |
KDM6A |
NM_021140.3(KDM6A):c.3635A>G (p.Gln1212Arg) |
SNV |
Likely pathogenic |
211257 |
rs797045644 |
X:44949074-44949074 |
X:45089829-45089829 |
21 |
KDM6A |
NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter) |
SNV |
Likely pathogenic |
216950 |
rs863224886 |
X:44950066-44950066 |
X:45090821-45090821 |
22 |
KDM6A |
NM_021140.3(KDM6A):c.3584C>T (p.Pro1195Leu) |
SNV |
Likely pathogenic |
648826 |
|
X:44949023-44949023 |
X:45089778-45089778 |
23 |
KDM6A |
NM_021140.3(KDM6A):c.752G>A (p.Trp251Ter) |
SNV |
Likely pathogenic |
183368 |
rs793888509 |
X:44913077-44913077 |
X:45053832-45053832 |
24 |
DIPK2B , DUSP21 , EFHC2 , FUNDC1 , KDM6A , MAOA , MAOB , NDP |
NC_000023.10:g.(?_43479884)_(45501849_?)del |
deletion |
Likely pathogenic |
183367 |
|
X:43479884-45501849 |
|
25 |
KDM6A |
NM_021140.3(KDM6A):c.3736+2T>C |
SNV |
Likely pathogenic |
183369 |
rs793888510 |
X:44949177-44949177 |
X:45089932-45089932 |
26 |
subset of 15 genes: KDM6A , MAOA , NDP , RP2 , ZNF674 |
NC_000023.10:g.(?_43479884)_(46741003_?)del |
deletion |
Likely pathogenic |
183366 |
|
X:43479884-46741003 |
|
27 |
KDM6A |
NM_021140.3(KDM6A):c.1425+1G>T |
SNV |
Likely pathogenic |
654686 |
|
X:44920665-44920665 |
X:45061420-45061420 |
28 |
KDM6A |
NM_021140.3(KDM6A):c.3144+1G>A |
SNV |
Likely pathogenic |
663689 |
|
X:44938597-44938597 |
X:45079352-45079352 |
29 |
KDM6A |
NM_021140.3(KDM6A):c.4161T>A (p.Tyr1387Ter) |
SNV |
Likely pathogenic |
689653 |
|
X:44969479-44969479 |
X:45110234-45110234 |
30 |
KDM6A |
NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs) |
duplication |
Likely pathogenic |
620000 |
rs1569542167 |
X:44966717-44966718 |
X:45107472-45107473 |
31 |
KDM6A |
NM_021140.3(KDM6A):c.3769G>T (p.Glu1257Ter) |
SNV |
Likely pathogenic |
559936 |
rs1556357274 |
X:44950000-44950000 |
X:45090755-45090755 |
32 |
KDM6A |
NM_021140.3(KDM6A):c.2938+2T>C |
SNV |
Likely pathogenic |
582366 |
rs1569537333 |
X:44937752-44937752 |
X:45078507-45078507 |
33 |
KDM6A |
NM_021140.3(KDM6A):c.3598C>T (p.Leu1200Phe) |
SNV |
Likely pathogenic |
397533 |
rs1060499665 |
X:44949037-44949037 |
X:45089792-45089792 |
34 |
KDM6A |
NM_021140.3(KDM6A):c.250A>G (p.Ile84Val) |
SNV |
Conflicting interpretations of pathogenicity |
488374 |
rs1373790479 |
X:44820553-44820553 |
X:44961308-44961308 |
35 |
KDM6A |
NM_021140.3(KDM6A):c.2473A>G (p.Thr825Ala) |
SNV |
Uncertain significance |
640293 |
|
X:44929373-44929373 |
X:45070128-45070128 |
36 |
KDM6A |
NM_021140.3(KDM6A):c.3457T>C (p.Cys1153Arg) |
SNV |
Uncertain significance |
658661 |
|
X:44945133-44945133 |
X:45085888-45085888 |
37 |
KDM6A |
NM_021140.3(KDM6A):c.3763C>T (p.Arg1255Trp) |
SNV |
Uncertain significance |
565844 |
rs1450363794 |
X:44949994-44949994 |
X:45090749-45090749 |
38 |
KDM6A |
NM_021140.3(KDM6A):c.563A>G (p.Lys188Arg) |
SNV |
Uncertain significance |
561041 |
rs1569521751 |
X:44879974-44879974 |
X:45020729-45020729 |
39 |
KDM6A |
NM_021140.3(KDM6A):c.3458G>A (p.Cys1153Tyr) |
SNV |
Uncertain significance |
545087 |
rs1556350571 |
X:44945134-44945134 |
X:45085889-45085889 |
40 |
KDM6A |
NM_001291415.2(KDM6A):c.3301G>A (p.Glu1101Lys) |
SNV |
Uncertain significance |
870634 |
|
X:44941821-44941821 |
X:45082576-45082576 |
41 |
KDM6A |
NM_021140.3(KDM6A):c.4052G>A (p.Arg1351Gln) |
SNV |
Uncertain significance |
158691 |
rs370765411 |
X:44969370-44969370 |
X:45110125-45110125 |
42 |
KDM6A |
NM_001291415.2(KDM6A):c.2970A>G (p.Pro990=) |
SNV |
Likely benign |
772602 |
|
X:44936053-44936053 |
X:45076808-45076808 |
43 |
KDM6A |
NM_001291415.2(KDM6A):c.4254C>T (p.Ser1418=) |
SNV |
Likely benign |
778791 |
|
X:44969416-44969416 |
X:45110171-45110171 |
44 |
KDM6A |
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) |
SNV |
Likely benign |
811049 |
|
X:44922857-44922857 |
X:45063612-45063612 |
45 |
KDM6A |
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) |
SNV |
Likely benign |
811686 |
|
X:44969417-44969417 |
X:45110172-45110172 |
46 |
KDM6A |
NM_021140.3(KDM6A):c.2177C>T (p.Thr726Met) |
SNV |
Benign/Likely benign |
379452 |
rs2230018 |
X:44929077-44929077 |
X:45069832-45069832 |
47 |
KDM6A |
NM_021140.3(KDM6A):c.1751C>T (p.Thr584Met) |
SNV |
Benign/Likely benign |
284402 |
rs141353229 |
X:44922890-44922890 |
X:45063645-45063645 |
48 |
KDM6A |
NM_021140.3(KDM6A):c.1843C>G (p.Leu615Val) |
SNV |
Benign/Likely benign |
134596 |
rs112725812 |
X:44922982-44922982 |
X:45063737-45063737 |
49 |
KDM6A |
NM_021140.3(KDM6A):c.48_50dup |
short repeat |
Benign |
193446 |
rs797044622 |
X:44732836-44732837 |
X:44873590-44873591 |
50 |
KDM6A |
NM_021140.3(KDM6A):c.1527+3G>A |
SNV |
Benign |
261406 |
rs61751429 |
X:44921996-44921996 |
X:45062751-45062751 |