1 |
SHOX
|
NM_000451.3(SHOX): c.583C> T (p.Arg195Ter)
|
single nucleotide variant |
Pathogenic |
rs137852552
|
GRCh37 |
Chromosome X, 601772: 601772 |
2 |
SHOX
|
NM_000451.3(SHOX): c.583C> T (p.Arg195Ter)
|
single nucleotide variant |
Pathogenic |
rs137852552
|
GRCh38 |
Chromosome X, 641037: 641037 |
3 |
SHOX
|
NM_000451.3(SHOX): c.583C> T (p.Arg195Ter)
|
single nucleotide variant |
Pathogenic |
rs137852552
|
GRCh38 |
Chromosome Y, 641037: 641037 |
4 |
SHOX
|
NM_000451.3(SHOX): c.583C> T (p.Arg195Ter)
|
single nucleotide variant |
Pathogenic |
rs137852552
|
GRCh37 |
Chromosome Y, 551772: 551772 |
5 |
SHOX
|
NM_000451.3(SHOX): c.517C> T (p.Arg173Cys)
|
single nucleotide variant |
Pathogenic |
rs137852556
|
GRCh37 |
Chromosome X, 601586: 601586 |
6 |
SHOX
|
NM_000451.3(SHOX): c.517C> T (p.Arg173Cys)
|
single nucleotide variant |
Pathogenic |
rs137852556
|
GRCh38 |
Chromosome X, 640851: 640851 |
7 |
SHOX
|
NM_000451.3(SHOX): c.517C> T (p.Arg173Cys)
|
single nucleotide variant |
Pathogenic |
rs137852556
|
GRCh38 |
Chromosome Y, 640851: 640851 |
8 |
SHOX
|
NM_000451.3(SHOX): c.517C> T (p.Arg173Cys)
|
single nucleotide variant |
Pathogenic |
rs137852556
|
GRCh37 |
Chromosome Y, 551586: 551586 |
9 |
SHOX
|
NM_000451.3(SHOX): c.279G> T (p.Gly93=)
|
single nucleotide variant |
Likely benign |
rs193922465
|
GRCh38 |
Chromosome X, 634619: 634619 |
10 |
SHOX
|
NM_000451.3(SHOX): c.279G> T (p.Gly93=)
|
single nucleotide variant |
Likely benign |
rs193922465
|
GRCh37 |
Chromosome X, 595354: 595354 |
11 |
SHOX
|
NM_000451.3(SHOX): c.279G> T (p.Gly93=)
|
single nucleotide variant |
Likely benign |
rs193922465
|
GRCh37 |
Chromosome Y, 545354: 545354 |
12 |
SHOX
|
NM_000451.3(SHOX): c.279G> T (p.Gly93=)
|
single nucleotide variant |
Likely benign |
rs193922465
|
GRCh38 |
Chromosome Y, 634619: 634619 |
13 |
SHOX
|
NM_000451.3(SHOX): c.347A> G (p.Lys116Arg)
|
single nucleotide variant |
Likely pathogenic |
rs193922466
|
GRCh37 |
Chromosome X, 595422: 595422 |
14 |
SHOX
|
NM_000451.3(SHOX): c.347A> G (p.Lys116Arg)
|
single nucleotide variant |
Likely pathogenic |
rs193922466
|
GRCh38 |
Chromosome X, 634687: 634687 |
15 |
SHOX
|
NM_000451.3(SHOX): c.347A> G (p.Lys116Arg)
|
single nucleotide variant |
Likely pathogenic |
rs193922466
|
GRCh37 |
Chromosome Y, 545422: 545422 |
16 |
SHOX
|
NM_000451.3(SHOX): c.347A> G (p.Lys116Arg)
|
single nucleotide variant |
Likely pathogenic |
rs193922466
|
GRCh38 |
Chromosome Y, 634687: 634687 |
17 |
SHOX
|
NM_000451.3(SHOX): c.400C> A (p.Arg134=)
|
single nucleotide variant |
Benign/Likely benign |
rs193922467
|
GRCh37 |
Chromosome X, 595475: 595475 |
18 |
SHOX
|
NM_000451.3(SHOX): c.400C> A (p.Arg134=)
|
single nucleotide variant |
Benign/Likely benign |
rs193922467
|
GRCh38 |
Chromosome X, 634740: 634740 |
19 |
SHOX
|
NM_000451.3(SHOX): c.400C> A (p.Arg134=)
|
single nucleotide variant |
Benign/Likely benign |
rs193922467
|
GRCh38 |
Chromosome Y, 634740: 634740 |
20 |
SHOX
|
NM_000451.3(SHOX): c.400C> A (p.Arg134=)
|
single nucleotide variant |
Benign/Likely benign |
rs193922467
|
GRCh37 |
Chromosome Y, 545475: 545475 |
21 |
SHOX
|
NM_000451.3(SHOX): c.63C> T (p.Gly21=)
|
single nucleotide variant |
Benign/Likely benign |
rs142306835
|
GRCh38 |
Chromosome X, 630960: 630960 |
22 |
SHOX
|
NM_000451.3(SHOX): c.63C> T (p.Gly21=)
|
single nucleotide variant |
Benign/Likely benign |
rs142306835
|
GRCh37 |
Chromosome X, 591695: 591695 |
23 |
SHOX
|
NM_000451.3(SHOX): c.63C> T (p.Gly21=)
|
single nucleotide variant |
Benign/Likely benign |
rs142306835
|
GRCh37 |
Chromosome Y, 541695: 541695 |
24 |
SHOX
|
NM_000451.3(SHOX): c.63C> T (p.Gly21=)
|
single nucleotide variant |
Benign/Likely benign |
rs142306835
|
GRCh38 |
Chromosome Y, 630960: 630960 |
25 |
SHOX
|
SHOX, 47.5-KB DEL, DOWNSTREAM ENHANCER
|
deletion |
Pathogenic |
|
|
|
26 |
SHOX
|
NM_000451.3(SHOX): c.-507G> C
|
single nucleotide variant |
Pathogenic |
rs111549748
|
GRCh38 |
Chromosome X, 624528: 624528 |
27 |
SHOX
|
NM_000451.3(SHOX): c.-507G> C
|
single nucleotide variant |
Pathogenic |
rs111549748
|
GRCh37 |
Chromosome X, 585263: 585263 |
28 |
SHOX
|
NM_000451.3(SHOX): c.-507G> C
|
single nucleotide variant |
Pathogenic |
rs111549748
|
GRCh38 |
Chromosome Y, 624528: 624528 |
29 |
SHOX
|
NM_000451.3(SHOX): c.-507G> C
|
single nucleotide variant |
Pathogenic |
rs111549748
|
GRCh37 |
Chromosome Y, 535263: 535263 |
30 |
SHOX
|
NM_000451.3(SHOX): c.-512C> A
|
single nucleotide variant |
Pathogenic |
rs113313554
|
GRCh37 |
Chromosome X, 585258: 585258 |
31 |
SHOX
|
NM_000451.3(SHOX): c.-512C> A
|
single nucleotide variant |
Pathogenic |
rs113313554
|
GRCh38 |
Chromosome X, 624523: 624523 |
32 |
SHOX
|
NM_000451.3(SHOX): c.-512C> A
|
single nucleotide variant |
Pathogenic |
rs113313554
|
GRCh38 |
Chromosome Y, 624523: 624523 |
33 |
SHOX
|
NM_000451.3(SHOX): c.-512C> A
|
single nucleotide variant |
Pathogenic |
rs113313554
|
GRCh37 |
Chromosome Y, 535258: 535258 |
34 |
SHOX
|
NM_000451.3(SHOX): c.-646_-645insTGT
|
insertion |
Pathogenic |
rs199946685
|
GRCh37 |
Chromosome X, 585124: 585125 |
35 |
SHOX
|
NM_000451.3(SHOX): c.-646_-645insTGT
|
insertion |
Pathogenic |
rs199946685
|
GRCh38 |
Chromosome X, 624389: 624390 |
36 |
SHOX
|
NM_000451.3(SHOX): c.-646_-645insTGT
|
insertion |
Pathogenic |
rs199946685
|
GRCh38 |
Chromosome Y, 624389: 624390 |
37 |
SHOX
|
NM_000451.3(SHOX): c.-646_-645insTGT
|
insertion |
Pathogenic |
rs199946685
|
GRCh37 |
Chromosome Y, 535124: 535125 |
38 |
SHOX
|
NM_000451.3(SHOX): c.-372G> A
|
single nucleotide variant |
Uncertain significance |
rs2239401
|
GRCh37 |
Chromosome X, 591261: 591261 |
39 |
SHOX
|
NM_000451.3(SHOX): c.-372G> A
|
single nucleotide variant |
Uncertain significance |
rs2239401
|
GRCh38 |
Chromosome X, 630526: 630526 |
40 |
SHOX
|
NM_000451.3(SHOX): c.-372G> A
|
single nucleotide variant |
Uncertain significance |
rs2239401
|
GRCh37 |
Chromosome Y, 541261: 541261 |
41 |
SHOX
|
NM_000451.3(SHOX): c.-372G> A
|
single nucleotide variant |
Uncertain significance |
rs2239401
|
GRCh38 |
Chromosome Y, 630526: 630526 |
42 |
SHOX
|
NM_000451.3(SHOX): c.528G= (p.Glu176=)
|
single nucleotide variant |
Uncertain significance |
rs778921118
|
GRCh38 |
Chromosome X, 640862: 640862 |
43 |
SHOX
|
NM_000451.3(SHOX): c.528G= (p.Glu176=)
|
single nucleotide variant |
Uncertain significance |
rs778921118
|
GRCh37 |
Chromosome X, 601597: 601597 |
44 |
SHOX
|
NM_000451.3(SHOX): c.528G= (p.Glu176=)
|
single nucleotide variant |
Uncertain significance |
rs778921118
|
GRCh38 |
Chromosome Y, 640862: 640862 |
45 |
SHOX
|
NM_000451.3(SHOX): c.528G= (p.Glu176=)
|
single nucleotide variant |
Uncertain significance |
rs778921118
|
GRCh37 |
Chromosome Y, 551597: 551597 |
46 |
SHOX
|
NM_000451.3(SHOX): c.528G> C (p.Glu176Asp)
|
single nucleotide variant |
Pathogenic |
rs778921118
|
GRCh38 |
Chromosome X, 640862: 640862 |
47 |
SHOX
|
NM_000451.3(SHOX): c.528G> C (p.Glu176Asp)
|
single nucleotide variant |
Pathogenic |
rs778921118
|
GRCh37 |
Chromosome X, 601597: 601597 |
48 |
SHOX
|
NM_000451.3(SHOX): c.528G> C (p.Glu176Asp)
|
single nucleotide variant |
Pathogenic |
rs778921118
|
GRCh38 |
Chromosome Y, 640862: 640862 |
49 |
SHOX
|
NM_000451.3(SHOX): c.528G> C (p.Glu176Asp)
|
single nucleotide variant |
Pathogenic |
rs778921118
|
GRCh37 |
Chromosome Y, 551597: 551597 |
50 |
SHOX
|
NM_000451.3(SHOX): c.*41C> A
|
single nucleotide variant |
Uncertain significance |
rs749355015
|
GRCh38 |
Chromosome X, 644677: 644677 |