1 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr) |
SNV |
Pathogenic
|
8615 |
rs121909376 |
GRCh37: 11:47356655-47356655 GRCh38: 11:47335104-47335104 |
2 |
MYBPC3 |
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) |
SNV |
Pathogenic
|
64613 |
rs397514751 |
GRCh37: 11:47353646-47353646 GRCh38: 11:47332095-47332095 |
3 |
overlap with 2 genes |
arr[hg19]11p11.2(47339995x2,47343435_47375684x1,47387184x2) |
CN LOSS |
Pathogenic
|
635764 |
|
GRCh37: 11:47343435-47375684 GRCh38: |
4 |
MYBPC3 |
NM_000256.3(MYBPC3):c.927-9G>A |
SNV |
Pathogenic
|
42807 |
rs397516083 |
GRCh37: 11:47367930-47367930 GRCh38: 11:47346379-47346379 |
5 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) |
SNV |
Pathogenic
|
164078 |
rs727503188 |
GRCh37: 11:47359095-47359095 GRCh38: 11:47337544-47337544 |
6 |
MYBPC3 |
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) |
SNV |
Pathogenic
|
960010 |
rs367947846 |
GRCh37: 11:47367849-47367849 GRCh38: 11:47346298-47346298 |
7 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1223+1G>T |
SNV |
Pathogenic
|
861189 |
rs730880639 |
GRCh37: 11:47365042-47365042 GRCh38: 11:47343491-47343491 |
8 |
MYBPC3 |
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) |
DUP |
Pathogenic
|
181156 |
rs730880720 |
GRCh37: 11:47354387-47354388 GRCh38: 11:47332836-47332837 |
9 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) |
SNV |
Pathogenic
|
64615 |
rs371401403 |
GRCh37: 11:47357547-47357547 GRCh38: 11:47335996-47335996 |
10 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) |
DEL |
Pathogenic
|
42663 |
rs397515990 |
GRCh37: 11:47356633-47356634 GRCh38: 11:47335082-47335083 |
11 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) |
SNV |
Pathogenic
|
8608 |
rs121909374 |
GRCh37: 11:47364129-47364129 GRCh38: 11:47342578-47342578 |
12 |
MYBPC3 |
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) |
SNV |
Pathogenic
|
42744 |
rs397516042 |
GRCh37: 11:47353626-47353626 GRCh38: 11:47332075-47332075 |
13 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) |
SNV |
Pathogenic
Likely Pathogenic
|
36604 |
rs36211723 |
GRCh37: 11:47360071-47360071 GRCh38: 11:47338520-47338520 |
14 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) |
SNV |
Pathogenic
|
164113 |
rs200411226 |
GRCh37: 11:47364269-47364269 GRCh38: 11:47342718-47342718 |
15 |
MYBPC3 |
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) |
SNV |
Pathogenic
Pathogenic
|
42792 |
rs397516074 |
GRCh37: 11:47369975-47369975 GRCh38: 11:47348424-47348424 |
16 |
MYBPC3 |
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) |
SNV |
Pathogenic
|
42682 |
rs397516000 |
GRCh37: 11:47355233-47355233 GRCh38: 11:47333682-47333682 |
17 |
MYBPC3 |
NM_000256.3(MYBPC3):c.3190+5G>A |
SNV |
Pathogenic
|
155808 |
rs587782958 |
GRCh37: 11:47355103-47355103 GRCh38: 11:47333552-47333552 |
18 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1928-2A>G |
SNV |
Pathogenic
|
42585 |
rs397515937 |
GRCh37: 11:47361343-47361343 GRCh38: 11:47339792-47339792 |
19 |
MYBPC3 |
NM_000256.3(MYBPC3):c.3330+5G>C |
SNV |
Pathogenic
|
42706 |
rs373746463 |
GRCh37: 11:47354740-47354740 GRCh38: 11:47333189-47333189 |
20 |
MYBPC3 |
NM_000256.3(MYBPC3):c.821+1G>A |
SNV |
Pathogenic
|
42791 |
rs397516073 |
GRCh37: 11:47369407-47369407 GRCh38: 11:47347856-47347856 |
21 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1224-52G>A |
SNV |
Pathogenic
|
188544 |
rs786204336 |
GRCh37: 11:47364865-47364865 GRCh38: 11:47343314-47343314 |
22 |
MYBPC3 |
NM_000256.3(MYBPC3):c.26-2A>G |
SNV |
Likely Pathogenic
|
42644 |
rs376395543 |
GRCh37: 11:47373058-47373058 GRCh38: 11:47351507-47351507 |
23 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) |
SNV |
Likely Pathogenic
Not Provided
|
42540 |
rs375882485 |
GRCh37: 11:47364249-47364249 GRCh38: 11:47342698-47342698 |
24 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) |
SNV |
Likely Pathogenic
|
618225 |
rs1269517446 |
GRCh37: 11:47364680-47364680 GRCh38: 11:47343129-47343129 |
25 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) |
SNV |
Likely Pathogenic
Uncertain Significance
|
161308 |
rs371488302 |
GRCh37: 11:47359343-47359343 GRCh38: 11:47337792-47337792 |
26 |
MYBPC3 |
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) |
DEL |
Likely Pathogenic
|
42565 |
rs397515925 |
GRCh37: 11:47372895-47372905 GRCh38: 11:47351344-47351354 |
27 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) |
SNV |
Likely Pathogenic
|
575705 |
rs752200396 |
GRCh37: 11:47360203-47360203 GRCh38: 11:47338652-47338652 |
28 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2148+1G>T |
SNV |
Likely Pathogenic
|
417931 |
rs1060499604 |
GRCh37: 11:47360874-47360874 GRCh38: 11:47339323-47339323 |
29 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del) |
DEL |
Likely Pathogenic
|
978729 |
rs2095881732 |
GRCh37: 11:47357428-47357454 GRCh38: 11:47335877-47335903 |
30 |
MYBPC3 |
NM_000256.3(MYBPC3):c.3628-41_3628-17del |
DEL |
Likely Pathogenic
|
177677 |
rs36212066 |
GRCh37: 11:47353826-47353850 GRCh38: 11:47332275-47332299 |
31 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) |
SNV |
Likely Pathogenic
|
635763 |
rs1595843553 |
GRCh37: 11:47358972-47358972 GRCh38: 11:47337421-47337421 |
32 |
MYBPC3 |
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs) |
DUP |
Likely Pathogenic
|
689322 |
rs1595850762 |
GRCh37: 11:47373030-47373031 GRCh38: 11:47351479-47351480 |
33 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg) |
SNV |
Likely Pathogenic
|
689323 |
rs1338707268 |
GRCh37: 11:47359112-47359112 GRCh38: 11:47337561-47337561 |
34 |
MYBPC3 |
NM_000256.3(MYBPC3):c.121dup (p.Arg41fs) |
DUP |
Likely Pathogenic
|
689324 |
rs1248588905 |
GRCh37: 11:47372960-47372961 GRCh38: 11:47351409-47351410 |
35 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
36602 |
rs181834806 |
GRCh37: 11:47364209-47364209 GRCh38: 11:47342658-47342658 |
36 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
42576 |
rs371564200 |
GRCh37: 11:47362758-47362758 GRCh38: 11:47341207-47341207 |
37 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) |
SNV |
Uncertain Significance
|
42656 |
rs397515985 |
GRCh37: 11:47357437-47357437 GRCh38: 11:47335886-47335886 |
38 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser) |
SNV |
Uncertain Significance
|
976255 |
rs1565627873 |
GRCh37: 11:47364204-47364204 GRCh38: 11:47342653-47342653 |
39 |
MYBPC3 |
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) |
SNV |
Uncertain Significance
|
161304 |
rs369300885 |
GRCh37: 11:47370065-47370065 GRCh38: 11:47348514-47348514 |
40 |
MYBPC3 |
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) |
SNV |
Uncertain Significance
|
42810 |
rs374326087 |
GRCh37: 11:47367915-47367915 GRCh38: 11:47346364-47346364 |
41 |
MYBPC3 |
NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=) |
SNV |
Uncertain Significance
|
454313 |
rs730880698 |
GRCh37: 11:47372845-47372845 GRCh38: 11:47351294-47351294 |
42 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) |
SNV |
Uncertain Significance
|
427958 |
rs773819168 |
GRCh37: 11:47356715-47356715 GRCh38: 11:47335164-47335164 |
43 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) |
SNV |
Uncertain Significance
|
36601 |
rs193922377 |
GRCh37: 11:47364602-47364602 GRCh38: 11:47343051-47343051 |
44 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=) |
SNV |
Uncertain Significance
|
878506 |
rs775237084 |
GRCh37: 11:47365114-47365114 GRCh38: 11:47343563-47343563 |
45 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu) |
SNV |
Uncertain Significance
|
454320 |
rs751224775 |
GRCh37: 11:47356733-47356733 GRCh38: 11:47335182-47335182 |
46 |
MYBPC3 |
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) |
SNV |
Uncertain Significance
|
525001 |
rs11570060 |
GRCh37: 11:47369211-47369211 GRCh38: 11:47347660-47347660 |
47 |
MYBPC3 |
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) |
SNV |
Uncertain Significance
Likely Benign
|
42577 |
rs377225516 |
GRCh37: 11:47372898-47372898 GRCh38: 11:47351347-47351347 |
48 |
MYBPC3 |
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) |
SNV |
Uncertain Significance
|
161315 |
rs373730381 |
GRCh37: 11:47369442-47369442 GRCh38: 11:47347891-47347891 |
49 |
MYBPC3 |
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu) |
SNV |
Uncertain Significance
|
877568 |
rs549758428 |
GRCh37: 11:47372799-47372799 GRCh38: 11:47351248-47351248 |
50 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) |
SNV |
Uncertain Significance
|
36607 |
rs193922380 |
GRCh37: 11:47356628-47356628 GRCh38: 11:47335077-47335077 |