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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 197059425 197059425 G > A ASPM ASPM NM_001206846.1:c.4975C>T
NM_018136.4:c.9730C>T
NP_001193775.1:p.Arg1659Ter
NP_060606.3:p.Arg3244Ter
3/8685 0.00017 1 Pathogenic
View 1 197070520 197070521 TC > - ASPM ASPM NM_001206846.1:c.4066-5227_4066-5226del
NM_018136.4:c.7860_7861del
NP_060606.3:p.Gln2620HisfsTer16
2/8685 0.00012 1 Pathogenic
View 1 197073821 197073821 G > - ASPM ASPM NM_001206846.1:c.4066-8527del
NM_018136.4:c.4560del
NP_060606.3:p.Tyr1521ThrfsTer5
1/8685 6.0e-05 1 frameshift Pathogenic
View 1 197411405 197411405 G > - CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 ENST00000367400.3:c.3988del
ENST00000538660.1:c.2380del
ENST00000535699.1:c.3916del
NR_047563.1:n.3989del
ENST00000367399.2:c.3652del
NR_047564.1:n.4197del
ENSP00000356370.3:p.Glu1330SerfsTer11
ENSP00000438091.1:p.Glu794SerfsTer11
ENSP00000438786.1:p.Glu1306SerfsTer11
ENSP00000356369.2:p.Glu1218SerfsTer11
2/8685 0.00012 1 Pathogenic
View 1 209961939 209961948 GAAATCACCA > - IRF6 IRF6 NM_001206696.1:c.936_945del
NM_006147.3:c.1221_1230del
NP_001193625.1:p.Gly313HisfsTer26
NP_006138.1:p.Gly408HisfsTer26
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 1 216497582 216497582 C > A USH2A USH2A ENST00000366942.3:c.1256G>T
ENST00000307340.3:c.1256G>T
ENSP00000355909.3:p.Cys419Phe
ENSP00000305941.3:p.Cys419Phe
6/10521 0.00029 1 Pathogenic
View 1 235564868 235564879 GGGAGCCACGAA > - TBCE TBCE NM_001079515.1:c.155_166del
NM_003193.3:c.155_166del
NP_001072983.1:p.Ser52_Gly55del
NP_003184.1:p.Ser52_Gly55del
2/10521 0.00019 1 Pathogenic
View 1 245026981 245026982 - > C HNRNPU HNRNPU NM_031844.2:c.628dupG
NM_004501.3:c.628dupG
NP_114032.2:p.Ala210GlyfsTer4
NP_004492.2:p.Ala210GlyfsTer14
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 10 14987109 14987109 G > A DCLRE1C DCLRE1C DCLRE1C DCLRE1C NM_022487.2:c.-49C>T
NM_001033855.1:c.241C>T
NM_001033857.1:c.-120C>T
NM_001033858.1:c.-442C>T
NP_001029027.1:p.Arg81Ter
1/10521 0.0001 1 Pathogenic
View 10 43617416 43617416 T > C RET RET ENST00000340058.5:c.2753T>C
ENST00000355710.3:c.2753T>C
ENSP00000344798.4:p.Met918Thr
ENSP00000347942.3:p.Met918Thr
2/8685 0.00012 1 Pathogenic
View 10 50678470 50678470 T > - ERCC6 NM_000124.3:c.3536del
NP_000115.1:p.Tyr1179LeufsTer22
2/10521 0.0001 1 Pathogenic
View 10 50691550 50691550 G > A ERCC6 NM_000124.3:c.1834C>T
NP_000115.1:p.Arg612Ter
2/10521 0.0001 1 Pathogenic
View 10 50713929 50713929 C > A ERCC6 NM_000124.3:c.1526+1G>T
6/10521 0.00033 1 ClinVar pathogenic variant Pathogenic
View 10 50738843 50738843 G > A ERCC6-PGBD3 ERCC6-PGBD3 ERCC6 NM_001277059.1:c.466C>T
NM_001277058.1:c.466C>T
NM_000124.3:c.466C>T
NP_001263988.1:p.Gln156Ter
NP_001263987.1:p.Gln156Ter
NP_000115.1:p.Gln156Ter
1/10521 5.0e-05 1 Pathogenic
View 10 72360387 72360387 G > A PRF1 PRF1 NM_001083116.1:c.272C>T
NM_005041.4:c.272C>T
NP_001076585.1:p.Ala91Val
NP_005032.2:p.Ala91Val
789/10521 0.03868 1 ClinVar pathogenic variant Pathogenic
View 10 73082812 73082812 G > A SLC29A3 SLC29A3 SLC29A3 SLC29A3 NM_001174098.1:c.300+1G>A
NM_018344.5:c.300+1G>A
NR_033414.1:n.357+1G>A
NR_033413.1:n.357+1G>A
3/8685 0.00023 1 Pathogenic
View 10 73500641 73500641 C > - CDH23 NM_022124.5:c.4552del
NP_071407.4:p.Leu1518TrpfsTer20
3/10521 0.00019 2 frameshift Pathogenic
View 10 79753125 79753125 G > A POLR3A NM_007055.3:c.2617C>T
NP_008986.2:p.Arg873Ter
5/8685 0.00029 1 Pathogenic
View 10 79769273 79769273 C > T POLR3A NM_007055.3:c.1909+22G>A
36/8646 0.00208 1 Pathogenic
View 10 79769277 79769277 C > T POLR3A NM_007055.3:c.1909+18G>A
2/8646 0.00012 1 Pathogenic
View 10 89692769 89692769 G > A PTEN NM_000314.4:c.254-1G>A
1/9384 5.0e-05 1 Pathogenic
View 10 89711913 89711913 T > G PTEN NM_000314.4:c.531T>G
NP_000305.3:p.Tyr177Ter
1/9384 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View 10 97453654 97453654 C > A TCTN3 TCTN3 NM_015631.5:c.3G>T
NM_001143973.1:c.3G>T
NP_056446.4:p.Met1?
NP_001137445.1:p.Met1?
2/8685 0.00012 1 Pathogenic
View 10 101486855 101486855 G > C COX15 COX15 NM_004376.5:c.452C>G
NM_078470.4:c.452C>G
NP_004367.2:p.Ser151Ter
NP_510870.1:p.Ser151Ter
8/10521 0.00038 1 Pathogenic
View 10 123274794 123274794 T > C FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.1574A>G
NM_001144913.1:c.1127A>G
NM_001144914.1:c.788A>G
NM_000141.4:c.1124A>G
NM_023029.2:c.857A>G
NM_001144919.1:c.860A>G
NM_001144915.1:c.857A>G
NM_001144916.1:c.779A>G
NM_001144917.1:c.939+4699A>G
NM_022970.3:c.1127A>G
NM_001144918.1:c.779A>G
NP_001138385.1:p.Tyr376Cys
NP_001138386.1:p.Tyr263Cys
NP_000132.3:p.Tyr375Cys
NP_075418.1:p.Tyr286Cys
NP_001138391.1:p.Tyr287Cys
NP_001138387.1:p.Tyr286Cys
NP_001138388.1:p.Tyr260Cys
NP_075259.4:p.Tyr376Cys
NP_001138390.1:p.Tyr260Cys
1/8685 6.0e-05 1 Pathogenic
View 11 299504 299504 G > A IFITM5 NM_001025295.2:c.-14C>T
1/8646 6.0e-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
1/8685 6.0e-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
1/8646 6.0e-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
2/8685 0.00012 1 Pathogenic
View 11 5247987 5247987 G > - HBB NM_000518.4:c.135del
NP_000509.1:p.Phe46LeufsTer16
1/10521 5.0e-05 1 Pathogenic
View 11 5247993 5247996 AAAG > - HBB NM_000518.4:c.126_129del
NP_000509.1:p.Phe42LeufsTer19
2/10521 0.00014 1 Pathogenic
View 11 5248232 5248232 T > A HBB NM_000518.4:c.20A>T
NP_000509.1:p.Glu7Val
84/10521 0.00428 1 Pathogenic
View 11 5248233 5248233 C > T HBB NM_000518.4:c.19G>A
NP_000509.1:p.Glu7Lys
15/10521 0.00071 1 Pathogenic
View 11 6638385 6638385 C > G TPP1 NM_000391.3:c.509-1G>C
7/10521 0.00033 1 Pathogenic
View 11 17424218 17424218 G > A ABCC8 NM_000352.3:c.3640C>T
NP_000343.2:p.Arg1214Trp
3/10773 0.00014 1 Pathogenic
View 11 36595629 36595629 A > - RAG1 ENST00000299440.5:c.775del
ENSP00000299440.5:p.Ser259AlafsTer5
1/10521 0.0001 1 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
41/10521 0.00195 1 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
34/9384 0.00181 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
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 11 65978677 65978677 C > T PACS1 NM_018026.3:c.607C>T
NP_060496.2:p.Arg203Trp
1/8685 6.0e-05 1 Pathogenic
View 11 66281940 66281941 CT > - BBS1 NM_024649.4:c.223_224del
NP_078925.3:p.Leu75GlyfsTer23
2/8685 0.00012 1 Pathogenic
View 11 66293652 66293652 T > G BBS1 NM_024649.4:c.1169T>G
NP_078925.3:p.Met390Arg
55/8685 0.00328 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
6/10521 0.00029 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
3/10521 0.00019 1 Pathogenic
View 11 68701322 68701322 C > T IGHMBP2 NM_002180.2:c.1478C>T
NP_002171.2:p.Thr493Ile
6/10521 0.00029 1 Pathogenic
View 11 68701332 68701332 C > A IGHMBP2 NM_002180.2:c.1488C>A
NP_002171.2:p.Cys496Ter
2/10521 0.0001 1 Pathogenic
View 11 68703756 68703756 G > A IGHMBP2 NM_002180.2:c.1808G>A
NP_002171.2:p.Arg603His
6/10521 0.00033 1 Pathogenic
View 11 68707126 68707127 AG > - IGHMBP2 NM_002180.2:c.2911_2912del
NP_002171.2:p.Arg971GlufsTer4
6/10521 0.00029 1 Pathogenic
View 11 71146886 71146886 C > A DHCR7 DHCR7 NM_001163817.1:c.964-1G>T
NM_001360.2:c.964-1G>T
4/10521 0.00019 1 Pathogenic
Displaying 50 through 100 of 521 variants