1 |
GH1, GH-LCR |
NM_000515.5(GH1):c.456+1G>C |
SNV |
Pathogenic
|
15966 |
rs797044449 |
GRCh37: 17:61995119-61995119 GRCh38: 17:63917759-63917759 |
2 |
GH1, GH-LCR |
NM_000515.5(GH1):c.456+1G>T |
SNV |
Pathogenic
|
15967 |
rs797044449 |
GRCh37: 17:61995119-61995119 GRCh38: 17:63917759-63917759 |
3 |
GH1, GH-LCR |
NM_000515.5(GH1):c.456+5G>C |
SNV |
Pathogenic
|
15976 |
rs863223308 |
GRCh37: 17:61995115-61995115 GRCh38: 17:63917755-63917755 |
4 |
GHRHR |
|
INDEL |
Pathogenic
|
56966 |
|
GRCh37: 7:30999250-31006943 GRCh38: 7:30959635-30967328 |
5 |
GHRHR |
NC_000007.14:g.31008681G>T |
SNV |
Pathogenic
|
626257 |
rs1562606449 |
GRCh37: 7:31048296-31048296 GRCh38: 7:31008681-31008681 |
6 |
GHRHR |
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) |
SNV |
Likely Pathogenic
|
161435 |
rs606231412 |
GRCh37: 7:31010785-31010785 GRCh38: 7:30971170-30971170 |
7 |
GHRHR |
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) |
SNV |
Likely Pathogenic
|
161436 |
rs200848306 |
GRCh37: 7:31009494-31009494 GRCh38: 7:30969879-30969879 |
8 |
GHRHR |
NM_000823.4(GHRHR):c.495C>A (p.His165Gln) |
SNV |
Likely Pathogenic
|
161437 |
rs606231413 |
GRCh37: 7:31011608-31011608 GRCh38: 7:30971993-30971993 |
9 |
GHRHR |
NM_000823.4(GHRHR):c.914G>A (p.Arg305His) |
SNV |
Uncertain Significance
|
360036 |
rs200472991 |
GRCh37: 7:31015423-31015423 GRCh38: 7:30975808-30975808 |
10 |
GHRHR |
NM_000823.4(GHRHR):c.57+1G>T |
SNV |
Uncertain Significance
|
360028 |
rs2302022 |
GRCh37: 7:31003741-31003741 GRCh38: 7:30964126-30964126 |
11 |
GHRHR |
NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp) |
SNV |
Uncertain Significance
|
360035 |
rs527387367 |
GRCh37: 7:31014648-31014648 GRCh38: 7:30975033-30975033 |
12 |
GHRHR |
NM_000823.4(GHRHR):c.*51C>T |
SNV |
Uncertain Significance
|
360038 |
rs185262577 |
GRCh37: 7:31018910-31018910 GRCh38: 7:30979295-30979295 |
13 |
GHRHR |
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly) |
SNV |
Uncertain Significance
|
360027 |
rs139599160 |
GRCh37: 7:31003712-31003712 GRCh38: 7:30964097-30964097 |
14 |
GHRHR |
NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala) |
SNV |
Uncertain Significance
|
360029 |
rs775025721 |
GRCh37: 7:31008725-31008725 GRCh38: 7:30969110-30969110 |
15 |
GHRHR |
NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp) |
SNV |
Uncertain Significance
|
909041 |
rs142361839 |
GRCh37: 7:31003693-31003693 GRCh38: 7:30964078-30964078 |
16 |
GHRHR |
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) |
SNV |
Uncertain Significance
|
287138 |
rs10227922 |
GRCh37: 7:31011625-31011625 GRCh38: 7:30972010-30972010 |
17 |
GHRHR |
NM_000823.4(GHRHR):c.174C>A (p.Thr58=) |
SNV |
Uncertain Significance
|
909044 |
rs540740642 |
GRCh37: 7:31008691-31008691 GRCh38: 7:30969076-30969076 |
18 |
GHRHR |
NM_000823.4(GHRHR):c.200C>T (p.Thr67Met) |
SNV |
Uncertain Significance
|
909045 |
rs201893637 |
GRCh37: 7:31008717-31008717 GRCh38: 7:30969102-30969102 |
19 |
GHRHR |
NM_000823.4(GHRHR):c.974+15T>G |
SNV |
Uncertain Significance
|
909103 |
rs1792566990 |
GRCh37: 7:31015498-31015498 GRCh38: 7:30975883-30975883 |
20 |
GHRHR |
NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp) |
SNV |
Uncertain Significance
|
909105 |
rs200508601 |
GRCh37: 7:31018752-31018752 GRCh38: 7:30979137-30979137 |
21 |
GHRHR |
NM_000823.4(GHRHR):c.*29A>G |
SNV |
Uncertain Significance
|
909107 |
rs759106817 |
GRCh37: 7:31018888-31018888 GRCh38: 7:30979273-30979273 |
22 |
GHRHR |
NM_000823.4(GHRHR):c.279A>G (p.Lys93=) |
SNV |
Uncertain Significance
|
909904 |
rs1792444704 |
GRCh37: 7:31009492-31009492 GRCh38: 7:30969877-30969877 |
23 |
GHRHR |
NM_000823.4(GHRHR):c.359C>T (p.Ala120Val) |
SNV |
Uncertain Significance
|
909905 |
rs138751215 |
GRCh37: 7:31009572-31009572 GRCh38: 7:30969957-30969957 |
24 |
GHRHR |
NM_000823.4(GHRHR):c.447C>T (p.Thr149=) |
SNV |
Uncertain Significance
|
909906 |
rs753197652 |
GRCh37: 7:31010814-31010814 GRCh38: 7:30971199-30971199 |
25 |
GHRHR |
NM_000823.4(GHRHR):c.*88T>A |
SNV |
Uncertain Significance
|
909959 |
rs578006876 |
GRCh37: 7:31018947-31018947 GRCh38: 7:30979332-30979332 |
26 |
GHRHR |
NM_000823.4(GHRHR):c.490G>A (p.Val164Ile) |
SNV |
Uncertain Significance
|
910805 |
rs138615339 |
GRCh37: 7:31011603-31011603 GRCh38: 7:30971988-30971988 |
27 |
GHRHR |
NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu) |
SNV |
Uncertain Significance
|
910806 |
rs570281194 |
GRCh37: 7:31011620-31011620 GRCh38: 7:30972005-30972005 |
28 |
GHRHR |
NM_000823.4(GHRHR):c.580C>T (p.His194Tyr) |
SNV |
Uncertain Significance
|
910807 |
rs377182945 |
GRCh37: 7:31011693-31011693 GRCh38: 7:30972078-30972078 |
29 |
GHRHR |
NM_000823.4(GHRHR):c.6C>T (p.Asp2=) |
SNV |
Uncertain Significance
|
911972 |
rs148704543 |
GRCh37: 7:31003689-31003689 GRCh38: 7:30964074-30964074 |
30 |
GHRHR |
NM_000823.4(GHRHR):c.760G>A (p.Val254Met) |
SNV |
Uncertain Significance
|
912022 |
rs375562610 |
GRCh37: 7:31014052-31014052 GRCh38: 7:30974437-30974437 |
31 |
GHRHR |
NM_000823.4(GHRHR):c.882+11G>A |
SNV |
Uncertain Significance
|
912023 |
rs200997755 |
GRCh37: 7:31014666-31014666 GRCh38: 7:30975051-30975051 |
32 |
GHRHR |
NM_000823.4(GHRHR):c.812C>T (p.Ala271Val) |
SNV |
Uncertain Significance
|
360033 |
rs547906129 |
GRCh37: 7:31014104-31014104 GRCh38: 7:30974489-30974489 |
33 |
GHRHR |
NM_000823.4(GHRHR):c.*198C>A |
SNV |
Uncertain Significance
|
360040 |
rs886062276 |
GRCh37: 7:31019057-31019057 GRCh38: 7:30979442-30979442 |
34 |
GHRHR |
NM_000823.4(GHRHR):c.640A>G (p.Met214Val) |
SNV |
Uncertain Significance
|
360032 |
rs535947130 |
GRCh37: 7:31013642-31013642 GRCh38: 7:30974027-30974027 |
35 |
GHRHR |
NM_000823.4(GHRHR):c.741C>T (p.Leu247=) |
SNV |
Uncertain Significance
|
284569 |
rs151019928 |
GRCh37: 7:31013743-31013743 GRCh38: 7:30974128-30974128 |
36 |
GHRHR |
NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu) |
SNV |
Uncertain Significance
|
909042 |
rs142833343 |
GRCh37: 7:31003730-31003730 GRCh38: 7:30964115-30964115 |
37 |
GHRHR |
NM_000823.4(GHRHR):c.93C>T (p.Ile31=) |
SNV |
Uncertain Significance
|
749584 |
rs143429066 |
GRCh37: 7:31008484-31008484 GRCh38: 7:30968869-30968869 |
38 |
GHRHR |
NM_000823.4(GHRHR):c.975-6C>A |
SNV |
Uncertain Significance
|
729746 |
rs117572522 |
GRCh37: 7:31016038-31016038 GRCh38: 7:30976423-30976423 |
39 |
GHRHR |
NM_000823.4(GHRHR):c.1105-14C>G |
SNV |
Uncertain Significance
|
909104 |
rs13223704 |
GRCh37: 7:31016882-31016882 GRCh38: 7:30977267-30977267 |
40 |
GHRHR |
NM_000823.4(GHRHR):c.1242G>A (p.Ser414=) |
SNV |
Uncertain Significance
|
909106 |
rs28371562 |
GRCh37: 7:31018829-31018829 GRCh38: 7:30979214-30979214 |
41 |
GHRHR |
NM_000823.4(GHRHR):c.237G>A (p.Pro79=) |
SNV |
Uncertain Significance
|
909902 |
rs28371558 |
GRCh37: 7:31008754-31008754 GRCh38: 7:30969139-30969139 |
42 |
GHRHR |
NM_000823.4(GHRHR):c.812+12C>T |
SNV |
Uncertain Significance
|
360034 |
rs151020002 |
GRCh37: 7:31014116-31014116 GRCh38: 7:30974501-30974501 |
43 |
GHRHR |
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) |
SNV |
Uncertain Significance
|
198104 |
rs147098353 |
GRCh37: 7:31011602-31011602 GRCh38: 7:30971987-30971987 |
44 |
GHRHR |
NM_000823.4(GHRHR):c.660G>A (p.Leu220=) |
SNV |
Uncertain Significance
|
597235 |
rs145466944 |
GRCh37: 7:31013662-31013662 GRCh38: 7:30974047-30974047 |
45 |
GHRHR |
NM_000823.4(GHRHR):c.751+12G>A |
SNV |
Uncertain Significance
|
912020 |
rs187794371 |
GRCh37: 7:31013765-31013765 GRCh38: 7:30974150-30974150 |
46 |
GHRHR |
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu) |
SNV |
Uncertain Significance
|
1031665 |
rs202243828 |
GRCh37: 7:31003736-31003736 GRCh38: 7:30964121-30964121 |
47 |
GH1, GH-LCR |
NM_000515.5(GH1):c.246G>C (p.Glu82Asp) |
SNV |
Uncertain Significance
|
889155 |
rs61762497 |
GRCh37: 17:61995422-61995422 GRCh38: 17:63918062-63918062 |
48 |
GHRHR |
NM_000823.4(GHRHR):c.1250del (p.Lys417fs) |
DEL |
Uncertain Significance
|
632503 |
rs771060895 |
GRCh37: 7:31018835-31018835 GRCh38: 7:30979220-30979220 |
49 |
GHRHR |
NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter) |
SNV |
Uncertain Significance
|
632502 |
rs147098353 |
GRCh37: 7:31011602-31011602 GRCh38: 7:30971987-30971987 |
50 |
GHRHR |
NM_000823.4(GHRHR):c.272C>T (p.Ala91Val) |
SNV |
Likely Benign
|
909903 |
rs144372265 |
GRCh37: 7:31009485-31009485 GRCh38: 7:30969870-30969870 |