1 |
HDAC8 |
NM_018486.3(HDAC8):c.164+5G>A |
SNV |
Pathogenic
|
37252 |
rs398122888 |
GRCh37: X:71791902-71791902 GRCh38: X:72572052-72572052 |
2 |
overlap with 7 genes |
NC_000023.10:g.71681853_72434328del752476 |
DEL |
Pathogenic
|
209109 |
|
GRCh37: X:71681853-72434328 GRCh38: |
3 |
HDAC8 |
NM_018486.3(HDAC8):c.104_105del (p.Pro35fs) |
DEL |
Pathogenic
|
545414 |
rs1556165162 |
GRCh37: X:71792507-71792508 GRCh38: X:72572657-72572658 |
4 |
HDAC8 |
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter) |
SNV |
Pathogenic
|
280671 |
rs886041838 |
GRCh37: X:71684532-71684532 GRCh38: X:72464682-72464682 |
5 |
HDAC8 |
NM_018486.3(HDAC8):c.738-1G>A |
SNV |
Pathogenic
|
804029 |
rs1602975601 |
GRCh37: X:71684582-71684582 GRCh38: X:72464732-72464732 |
6 |
HDAC8 |
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) |
SNV |
Pathogenic
|
433191 |
rs1555948969 |
GRCh37: X:71571613-71571613 GRCh38: X:72351763-72351763 |
7 |
HDAC8 |
NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter) |
SNV |
Pathogenic
|
446297 |
rs146015223 |
GRCh37: X:71715034-71715034 GRCh38: X:72495184-72495184 |
8 |
HDAC8 |
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg) |
SNV |
Pathogenic
|
987749 |
rs587779380 |
GRCh37: X:71787820-71787820 GRCh38: X:72567970-72567970 |
9 |
HDAC8 |
NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter) |
SNV |
Pathogenic
|
1333326 |
|
GRCh37: X:71684438-71684438 GRCh38: X:72464588-72464588 |
10 |
HDAC8 |
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg) |
SNV |
Pathogenic
|
39714 |
rs397515418 |
GRCh37: X:71681858-71681858 GRCh38: X:72462008-72462008 |
11 |
HDAC8 |
NM_018486.3(HDAC8):c.539A>G (p.His180Arg) |
SNV |
Pathogenic
|
39711 |
rs397515416 |
GRCh37: X:71715017-71715017 GRCh38: X:72495167-72495167 |
12 |
HDAC8 |
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) |
SNV |
Pathogenic
|
39710 |
rs397515415 |
GRCh37: X:71715066-71715066 GRCh38: X:72495216-72495216 |
13 |
HDAC8 |
NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer) |
DEL |
Pathogenic
|
1323053 |
|
GRCh37: X:71792530-71792537 GRCh38: X:72572680-72572687 |
14 |
HDAC8 |
NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu) |
SNV |
Pathogenic
|
1164056 |
|
GRCh37: X:71715085-71715085 GRCh38: X:72495235-72495235 |
15 |
HDAC8 |
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter) |
SNV |
Pathogenic
|
523222 |
rs1569316085 |
GRCh37: X:71681922-71681922 GRCh38: X:72462072-72462072 |
16 |
HDAC8 |
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer) |
DEL |
Pathogenic
|
158658 |
rs587783663 |
GRCh37: X:71791940-71791940 GRCh38: X:72572090-72572090 |
17 |
HDAC8 |
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) |
SNV |
Pathogenic
|
39712 |
rs397515417 |
GRCh37: X:71681927-71681927 GRCh38: X:72462077-72462077 |
18 |
overlap with 2 genes |
|
DEL |
Pathogenic
|
584437 |
|
GRCh37: X:71790521-71833766 GRCh38: X:72570671-72613916 |
19 |
HDAC8 |
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter) |
SNV |
Pathogenic
|
211141 |
rs797045611 |
GRCh37: X:71788670-71788670 GRCh38: X:72568820-72568820 |
20 |
HDAC8 |
NM_018486.3(HDAC8):c.295+2T>G |
SNV |
Pathogenic
|
844191 |
rs2051897517 |
GRCh37: X:71788602-71788602 GRCh38: X:72568752-72568752 |
21 |
HDAC8 |
NM_018486.3(HDAC8):c.164+2dup |
DUP |
Pathogenic
|
1072722 |
|
GRCh37: X:71791904-71791905 GRCh38: X:72572054-72572055 |
22 |
HDAC8 |
NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter) |
SNV |
Pathogenic
|
1076180 |
|
GRCh37: X:71715034-71715034 GRCh38: X:72495184-72495184 |
23 |
HDAC8 |
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs) |
MICROSAT |
Pathogenic
|
211139 |
rs797045610 |
GRCh37: X:71791934-71791937 GRCh38: X:72572084-72572087 |
24 |
HDAC8 |
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) |
SNV |
Pathogenic
|
39713 |
rs398122909 |
GRCh37: X:71681901-71681901 GRCh38: X:72462051-72462051 |
25 |
HDAC8 |
NM_018486.3(HDAC8):c.976_996del (p.Thr326_Pro332del) |
DEL |
Likely Pathogenic
|
1707472 |
|
GRCh37: X:71681863-71681883 GRCh38: X:72462013-72462033 |
26 |
HDAC8 |
NM_018486.3(HDAC8):c.839_843delinsGT (p.Thr280_Pro281delinsSer) |
INDEL |
Likely Pathogenic
|
369669 |
rs1057516037 |
GRCh37: X:71684476-71684480 GRCh38: X:72464626-72464630 |
27 |
HDAC8 |
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys) |
SNV |
Likely Pathogenic
|
211142 |
rs797045612 |
GRCh37: X:71710851-71710851 GRCh38: X:72491001-72491001 |
28 |
HDAC8 |
|
DEL |
Likely Pathogenic
|
1684651 |
|
GRCh37: GRCh38: X:72456277-72483823 |
29 |
HDAC8 |
NC_000023.10:g.(?_71681834)_(71715138_?)dup |
DUP |
Likely Pathogenic
|
540333 |
|
GRCh37: X:71681834-71715138 GRCh38: |
30 |
HDAC8 |
NM_018486.3(HDAC8):c.302A>G (p.Asp101Gly) |
SNV |
Likely Pathogenic
|
975708 |
rs2051867176 |
GRCh37: X:71787874-71787874 GRCh38: X:72568024-72568024 |
31 |
HDAC8 |
NM_018486.3(HDAC8):c.770C>A (p.Pro257His) |
SNV |
Likely Pathogenic
|
211143 |
rs797045613 |
GRCh37: X:71684549-71684549 GRCh38: X:72464699-72464699 |
32 |
HDAC8 |
NM_018486.3(HDAC8):c.1005+2T>C |
SNV |
Likely Pathogenic
|
1519914 |
|
GRCh37: X:71681852-71681852 GRCh38: X:72462002-72462002 |
33 |
HDAC8 |
NM_018486.3(HDAC8):c.551del (p.Gly184fs) |
DEL |
Likely Pathogenic
|
1333346 |
|
GRCh37: X:71710856-71710856 GRCh38: X:72491006-72491006 |
34 |
HDAC8 |
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser) |
SNV |
Likely Pathogenic
|
473110 |
rs1555949010 |
GRCh37: X:71571675-71571675 GRCh38: X:72351825-72351825 |
35 |
HDAC8 |
NM_018486.3(HDAC8):c.799G>A (p.Asp267Asn) |
SNV |
Likely Pathogenic
|
869426 |
rs2047965357 |
GRCh37: X:71684520-71684520 GRCh38: X:72464670-72464670 |
36 |
HDAC8 |
NM_018486.3(HDAC8):c.720T>G (p.Tyr240Ter) |
SNV |
Likely Pathogenic
|
928844 |
rs2048769063 |
GRCh37: X:71708800-71708800 GRCh38: X:72488950-72488950 |
37 |
HDAC8 |
NM_018486.3(HDAC8):c.584T>A (p.Val195Asp) |
SNV |
Likely Pathogenic
|
523220 |
rs1556009247 |
GRCh37: X:71710823-71710823 GRCh38: X:72490973-72490973 |
38 |
HDAC8 |
NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg) |
SNV |
Likely Pathogenic
|
523221 |
rs1569318004 |
GRCh37: X:71684526-71684526 GRCh38: X:72464676-72464676 |
39 |
HDAC8 |
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) |
SNV |
Likely Pathogenic
|
623138 |
rs1556007534 |
GRCh37: X:71708853-71708853 GRCh38: X:72489003-72489003 |
40 |
HDAC8 |
NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser) |
SNV |
Likely Pathogenic
|
689725 |
rs1602975455 |
GRCh37: X:71684550-71684550 GRCh38: X:72464700-72464700 |
41 |
HDAC8 |
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg) |
SNV |
Likely Pathogenic
|
800965 |
rs1602975122 |
GRCh37: X:71684460-71684460 GRCh38: X:72464610-72464610 |
42 |
HDAC8 |
NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro) |
SNV |
Likely Pathogenic
|
560685 |
rs1569317995 |
GRCh37: X:71684523-71684523 GRCh38: X:72464673-72464673 |
43 |
HDAC8 |
NM_018486.3(HDAC8):c.1006-2A>G |
SNV |
Likely Pathogenic
|
216939 |
rs863224877 |
GRCh37: X:71571690-71571690 GRCh38: X:72351840-72351840 |
44 |
HDAC8 |
NM_018486.3(HDAC8):c.737+1G>A |
SNV |
Likely Pathogenic
|
224074 |
rs869312660 |
GRCh37: X:71708782-71708782 GRCh38: X:72488932-72488932 |
45 |
HDAC8 |
NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly) |
SNV |
Likely Pathogenic
|
374393 |
rs1057518727 |
GRCh37: X:71715029-71715029 GRCh38: X:72495179-72495179 |
46 |
HDAC8 |
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
92043 |
rs587779380 |
GRCh37: X:71787820-71787820 GRCh38: X:72567970-72567970 |
47 |
HDAC8 |
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
931504 |
rs200093133 |
GRCh37: X:71792590-71792590 GRCh38: X:72572740-72572740 |
48 |
HDAC8 |
NM_018486.3(HDAC8):c.-5G>T |
SNV |
Uncertain Significance
|
158657 |
rs587783662 |
GRCh37: X:71792616-71792616 GRCh38: X:72572766-72572766 |
49 |
HDAC8 |
NM_018486.3(HDAC8):c.738-9969T>C |
SNV |
Uncertain Significance
|
1333188 |
|
GRCh37: X:71694550-71694550 GRCh38: X:72474700-72474700 |
50 |
HDAC8 |
NM_018486.3(HDAC8):c.24G>A (p.Ala8=) |
SNV |
Uncertain Significance
|
158660 |
rs61736843 |
GRCh37: X:71792588-71792588 GRCh38: X:72572738-72572738 |