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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
Displaying 100 through 150 of 878 variants