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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 11 | 299504 | 299504 | G > A | IFITM5 |
NM_001025295.2:c.-14C>T |
1/11944 | 4.0e-05 | 1 | Pathogenic | ||
| View | 11 | 534289 | 534289 | C > T | HRAS HRAS HRAS |
NM_001130442.1:c.34G>A NM_005343.2:c.34G>A NM_176795.3:c.34G>A |
NP_001123914.1:p.Gly12Ser NP_005334.1:p.Gly12Ser NP_789765.1:p.Gly12Ser |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 11 | 2181258 | 2181258 | C > T | INS INS-IGF2 INS-IGF2 INS INS |
NM_000207.2:c.188-31G>A NR_003512.3:n.246+757G>A NM_001042376.2:c.187+757G>A NM_001185098.1:c.188-31G>A NM_001185097.1:c.188-31G>A |
1/11944 | 4.0e-05 | 1 | Pathogenic | ||
| View | 11 | 2186957 | 2186957 | G > T | TH TH TH |
NM_199292.2:c.1234C>A NM_199293.2:c.1222C>A NM_000360.3:c.1141C>A |
NP_954986.2:p.Gln412Lys NP_954987.2:p.Gln408Lys NP_000351.2:p.Gln381Lys |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 11 | 2187233 | 2187233 | G > A | TH TH TH |
NM_199292.2:c.1196C>T NM_199293.2:c.1184C>T NM_000360.3:c.1103C>T |
NP_954986.2:p.Thr399Met NP_954987.2:p.Thr395Met NP_000351.2:p.Thr368Met |
1/14969 | 3.0e-05 | 1 | Pathogenic | |
| View | 11 | 2189135 | 2189135 | C > T | TH TH TH |
NM_199292.2:c.698G>A NM_199293.2:c.686G>A NM_000360.3:c.605G>A |
NP_954986.2:p.Arg233His NP_954987.2:p.Arg229His NP_000351.2:p.Arg202His |
5/14969 | 0.0002 | 1 | Pathogenic | |
| View | 11 | 2193087 | 2193087 | G > A | 2/13771 | 7.0e-05 | 1 | Pathogenic | ||||
| View | 11 | 2790111 | 2790111 | C > T | KCNQ1 KCNQ1 |
NM_000218.2:c.1552C>T NR_040711.2:n.1445C>T |
NP_000209.2:p.Arg518Ter |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 11 | 5247987 | 5247987 | G > - | HBB |
NM_000518.4:c.135del |
NP_000509.1:p.Phe46LeufsTer16 |
1/14969 | 3.0e-05 | 1 | Pathogenic | |
| View | 11 | 5247993 | 5247996 | AAAG > - | HBB |
NM_000518.4:c.126_129del |
NP_000509.1:p.Phe42LeufsTer19 |
3/14969 | 0.00013 | 1 | Pathogenic | |
| View | 11 | 5248232 | 5248232 | T > A | HBB |
NM_000518.4:c.20A>T |
NP_000509.1:p.Glu7Val |
127/14969 | 0.00454 | 1 | curation | Pathogenic |
| View | 11 | 5248233 | 5248233 | C > T | HBB |
NM_000518.4:c.19G>A |
NP_000509.1:p.Glu7Lys |
22/14969 | 0.00077 | 1 | Pathogenic | |
| View | 11 | 6638385 | 6638385 | C > G | TPP1 |
NM_000391.3:c.509-1G>C |
21/13810 | 0.00076 | 1 | Pathogenic | ||
| View | 11 | 17424218 | 17424218 | G > A | ABCC8 |
NM_000352.3:c.3640C>T |
NP_000343.2:p.Arg1214Trp |
3/15408 | 0.0001 | 1 | Pathogenic | |
| View | 11 | 22276949 | 22276949 | C > T | ANO5 ANO5 |
NM_213599.2:c.1213C>T NM_001142649.1:c.1210C>T |
NP_998764.1:p.Gln405Ter NP_001136121.1:p.Gln404Ter |
3/13144 | 0.00015 | 1 | Pathogenic | |
| View | 11 | 36595629 | 36595629 | A > - | RAG1 |
ENST00000299440.5:c.775del |
ENSP00000299440.5:p.Ser259AlafsTer5 |
1/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 11 | 46761055 | 46761055 | G > A | F2 |
NM_000506.3:c.*97G>A |
323/11974 | 0.01357 | 1 | ClinVar pathogenic variant | Pathogenic | |
| View | 11 | 47359280 | 47359281 | - > C | MYBPC3 |
NM_000256.3:c.2373dupG |
NP_000247.2:p.Trp792ValfsTer41 |
0/0 | 0 | 1 | Pathogenic | |
| View | 11 | 47469631 | 47469631 | G > T | RAPSN RAPSN |
NM_032645.4:c.264C>A NM_005055.4:c.264C>A |
NP_116034.2:p.Asn88Lys NP_005046.2:p.Asn88Lys |
54/14969 | 0.0018 | 1 | Pathogenic | |
| View | 11 | 61547342 | 61547343 | - > C | MYRF MYRF |
NM_013279.2:c.2250dupC NM_001127392.1:c.2277dupC |
NP_037411.1:p.Ile751HisfsTer42 NP_001120864.1:p.Ile760HisfsTer42 |
1/13105 | 4.0e-05 | 1 | frameshift | Pathogenic |
| View | 11 | 64527223 | 64527223 | G > A | PYGM PYGM |
NM_005609.2:c.148C>T NM_001164716.1:c.148C>T |
NP_005600.1:p.Arg50Ter NP_001158188.1:p.Arg50Ter |
65/13843 | 0.00235 | 1 | Pathogenic | |
| View | 11 | 65307505 | 65307505 | G > A | LTBP3 LTBP3 LTBP3 |
NM_021070.4:c.3245-153C>T NM_001130144.2:c.3364C>T NM_001164266.1:c.2894-153C>T |
NP_001123616.1:p.Gln1122Ter |
1/13144 | 4.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 11 | 65978677 | 65978677 | C > T | PACS1 |
NM_018026.3:c.607C>T |
NP_060496.2:p.Arg203Trp |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 11 | 66281940 | 66281941 | CT > - | BBS1 |
NM_024649.4:c.223_224del |
NP_078925.3:p.Leu75GlyfsTer23 |
3/13144 | 0.00011 | 1 | Pathogenic | |
| View | 11 | 66293652 | 66293652 | T > G | BBS1 |
NM_024649.4:c.1169T>G |
NP_078925.3:p.Met390Arg |
79/13144 | 0.00308 | 1 | Pathogenic | |
| View | 11 | 67378501 | 67378501 | G > A | NDUFV1 NDUFV1 |
NM_007103.3:c.736G>A NM_001166102.1:c.709G>A |
NP_009034.2:p.Glu246Lys NP_001159574.1:p.Glu237Lys |
6/14969 | 0.0002 | 1 | Pathogenic | |
| View | 11 | 67379443 | 67379443 | C > T | NDUFV1 NDUFV1 |
NM_007103.3:c.1156C>T NM_001166102.1:c.1129C>T |
NP_009034.2:p.Arg386Cys NP_001159574.1:p.Arg377Cys |
3/14969 | 0.00013 | 1 | Pathogenic | |
| View | 11 | 68701322 | 68701322 | C > T | IGHMBP2 |
NM_002180.2:c.1478C>T |
NP_002171.2:p.Thr493Ile |
9/14969 | 0.0003 | 1 | Pathogenic | |
| View | 11 | 68701332 | 68701332 | C > A | IGHMBP2 |
NM_002180.2:c.1488C>A |
NP_002171.2:p.Cys496Ter |
5/14969 | 0.00017 | 1 | Pathogenic | |
| View | 11 | 68702872 | 68702872 | G > A | IGHMBP2 |
NM_002180.2:c.1738G>A |
NP_002171.2:p.Val580Ile |
3/14969 | 0.0001 | 1 | Pathogenic | |
| View | 11 | 68703756 | 68703756 | G > A | IGHMBP2 |
NM_002180.2:c.1808G>A |
NP_002171.2:p.Arg603His |
5/14969 | 0.00017 | 1 | Pathogenic | |
| View | 11 | 68707126 | 68707127 | AG > - | IGHMBP2 |
NM_002180.2:c.2911_2912del |
NP_002171.2:p.Arg971GlufsTer4 |
6/14969 | 0.0002 | 1 | Pathogenic | |
| View | 11 | 71146886 | 71146886 | C > A | DHCR7 DHCR7 |
NM_001163817.1:c.964-1G>T NM_001360.2:c.964-1G>T |
4/13810 | 0.00014 | 1 | Pathogenic | ||
| View | 11 | 71146886 | 71146886 | C > G | DHCR7 DHCR7 |
NM_001163817.1:c.964-1G>C NM_001360.2:c.964-1G>C |
195/13824 | 0.00709 | 1 | Pathogenic | ||
| View | 11 | 71152378 | 71152378 | A > G | DHCR7 DHCR7 |
NM_001163817.1:c.521T>C NM_001360.2:c.521T>C |
NP_001157289.1:p.Phe174Ser NP_001351.2:p.Phe174Ser |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 11 | 71152447 | 71152447 | C > T | DHCR7 DHCR7 |
NM_001163817.1:c.452G>A NM_001360.2:c.452G>A |
NP_001157289.1:p.Trp151Ter NP_001351.2:p.Trp151Ter |
25/14969 | 0.00084 | 1 | Pathogenic | |
| View | 11 | 71155998 | 71155998 | T > C | DHCR7 DHCR7 |
NM_001163817.1:c.1A>G NM_001360.2:c.1A>G |
NP_001157289.1:p.Met1? NP_001351.2:p.Met1? |
3/14969 | 0.0001 | 1 | Pathogenic | |
| View | 11 | 72013383 | 72013383 | T > C | CLPB CLPB CLPB CLPB |
NM_030813.4:c.1222A>G NM_001258393.1:c.1045A>G NM_001258394.1:c.1087A>G NM_001258392.1:c.1132A>G |
NP_110440.1:p.Arg408Gly NP_001245322.1:p.Arg349Gly NP_001245323.1:p.Arg363Gly NP_001245321.1:p.Arg378Gly |
9/13144 | 0.00034 | 1 | Pathogenic | |
| View | 11 | 77817941 | 77817941 | G > A | ALG8 ALG8 |
NM_001007027.2:c.1090C>T NM_024079.4:c.1090C>T |
NP_001007028.1:p.Arg364Ter NP_076984.2:p.Arg364Ter |
3/14969 | 0.0001 | 1 | Pathogenic | |
| View | 11 | 89017973 | 89017973 | C > T | TYR |
NM_000372.4:c.1217C>T |
NP_000363.1:p.Pro406Leu |
105/13144 | 0.00399 | 1 | Pathogenic | |
| View | 11 | 103091449 | 103091449 | A > G | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.9044A>G NM_001377.2:c.9044A>G |
NP_001073932.1:p.Asp3015Gly NP_001368.2:p.Asp3015Gly |
12/14969 | 0.0004 | 1 | Pathogenic | |
| View | 11 | 103187273 | 103187273 | G > A | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.11671-1G>A NM_001377.2:c.11650-1G>A |
1/13810 | 4.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic | |
| View | 11 | 108009661 | 108009661 | A > G | ACAT1 |
NM_000019.3:c.472A>G |
NP_000010.1:p.Asn158Asp |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 11 | 108010834 | 108010834 | C > T | ACAT1 |
NM_000019.3:c.622C>T |
NP_000010.1:p.Arg208Ter |
4/14969 | 0.00013 | 1 | Pathogenic | |
| View | 11 | 108121753 | 108121754 | AG > - | ATM |
ENST00000278616.4:c.1564_1565del |
ENSP00000278616.4:p.Glu522IlefsTer43 |
3/14969 | 0.0001 | 1 | Pathogenic | |
| View | 11 | 118375197 | 118375197 | C > T | KMT2A KMT2A |
NM_001197104.1:c.8590C>T NM_005933.3:c.8581C>T |
NP_001184033.1:p.Gln2864Ter NP_005924.2:p.Gln2861Ter |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 11 | 118390416 | 118390416 | C > T | KMT2A KMT2A |
NM_001197104.1:c.11230C>T NM_005933.3:c.11221C>T |
NP_001184033.1:p.Arg3744Ter NP_005924.2:p.Arg3741Ter |
1/13144 | 4.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 11 | 118895981 | 118895982 | AG > - | SLC37A4 SLC37A4 SLC37A4 SLC37A4 SLC37A4 |
ENST00000357590.5:c.1108_1109del ENST00000538950.1:c.823_824del NM_001164280.1:c.1043_1044del ENST00000330775.7:c.1105_1106del ENST00000545985.1:c.1042_1043del |
ENSP00000476176.1:p.Leu370ValfsTer53 ENSP00000475991.1:p.Leu275ValfsTer53 NP_001157752.1:p.Pro348ArgfsTer? ENSP00000476242.1:p.Leu369ValfsTer53 ENSP00000475241.1:p.Leu348ValfsTer53 |
19/14969 | 0.00063 | 1 | Pathogenic | |
| View | 11 | 118962225 | 118962225 | C > T | HMBS HMBS HMBS HMBS |
NM_001024382.1:c.550C>T NM_001258208.1:c.601C>T NM_000190.3:c.601C>T NM_001258209.1:c.550C>T |
NP_001019553.1:p.Arg184Trp NP_001245137.1:p.Arg201Trp NP_000181.2:p.Arg201Trp NP_001245138.1:p.Arg184Trp |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 11 | 119148880 | 119148880 | A > C | CBL |
NM_005188.3:c.1100A>C |
NP_005179.2:p.Gln367Pro |
2/13144 | 8.0e-05 | 1 | Pathogenic |