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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 155210420 155210420 C > T GBA GBA GBA GBA GBA NM_001171812.1:c.115+1G>A
NM_001171811.1:c.-146-552G>A
NM_001005741.2:c.115+1G>A
NM_001005742.2:c.115+1G>A
NM_000157.3:c.115+1G>A
2/11422 9.0e-05 1 Pathogenic
View 1 155261636 155261636 C > T PKLR PKLR NM_181871.3:c.1436G>A
NM_000298.5:c.1529G>A
NP_870986.1:p.Arg479Gln
NP_000289.1:p.Arg510Gln
30/11422 0.00131 1 Pathogenic
View 1 155874285 155874285 A > C RIT1 RIT1 RIT1 NM_006912.5:c.246T>G
NM_001256820.1:c.138T>G
NM_001256821.1:c.297T>G
NP_008843.1:p.Phe82Leu
NP_001243749.1:p.Phe46Leu
NP_001243750.1:p.Phe99Leu
1/9594 5.0e-05 1 Pathogenic
View 1 156106776 156106776 G > A LMNA LMNA LMNA LMNA LMNA LMNA NM_001257374.1:c.1109G>A
NM_005572.3:c.1445G>A
NR_047544.1:n.2086G>A
NR_047545.1:n.1333G>A
NM_170707.3:c.1445G>A
NM_170708.3:c.1445G>A
NP_001244303.1:p.Arg370Gln
NP_005563.1:p.Arg482Gln
NP_733821.1:p.Arg482Gln
NP_733822.1:p.Arg482Gln
1/10293 5.0e-05 1 Pathogenic
View 1 160012247 160012247 G > A KCNJ10 NM_002241.4:c.76C>T
NP_002232.2:p.Arg26Ter
2/9594 0.00016 2 premature_stop Pathogenic
View 1 169519049 169519049 T > C F5 ENST00000367797.3:c.1601A>G
ENSP00000356771.3:p.Gln534Arg
9300/9640 0.94212 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Pathogenic
View 1 172411702 172411702 G > A C1orf105 PIGC PIGC NM_139240.3:c.22-2511G>A
NM_002642.3:c.61C>T
NM_153747.1:c.61C>T
NP_002633.1:p.Arg21Ter
NP_714969.1:p.Arg21Ter
4/9555 0.00021 1 Pathogenic
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
3/9594 0.00016 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
2/9594 0.0001 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
1/9594 5.0e-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
2/9594 0.0001 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
1/9594 5.0e-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
6/11422 0.00026 1 Pathogenic
View 1 231124186 231124187 - > T ARV1 NM_022786.1:c.294+2dupT
2/9594 0.0001 1 donor_site 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
2/11422 0.00018 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
1/9594 5.0e-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
1/11422 9.0e-05 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
2/9594 0.0001 1 Pathogenic
View 10 50678470 50678470 T > - ERCC6 NM_000124.3:c.3536del
NP_000115.1:p.Tyr1179LeufsTer22
2/11422 9.0e-05 1 Pathogenic
View 10 50691550 50691550 G > A ERCC6 NM_000124.3:c.1834C>T
NP_000115.1:p.Arg612Ter
2/11422 9.0e-05 1 Pathogenic
View 10 50713929 50713929 C > A ERCC6 NM_000124.3:c.1526+1G>T
6/11422 0.00031 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
1/11422 4.0e-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
876/11422 0.03944 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
3/9594 0.00021 1 Pathogenic
View 10 73500641 73500641 C > - CDH23 NM_022124.5:c.4552del
NP_071407.4:p.Leu1518TrpfsTer20
3/11422 0.00018 2 frameshift Pathogenic
View 10 79753125 79753125 G > A POLR3A NM_007055.3:c.2617C>T
NP_008986.2:p.Arg873Ter
5/9594 0.00026 1 Pathogenic
View 10 79769273 79769273 C > T POLR3A NM_007055.3:c.1909+22G>A
42/9555 0.0022 1 Pathogenic
View 10 79769277 79769277 C > T POLR3A NM_007055.3:c.1909+18G>A
2/9555 0.0001 1 Pathogenic
View 10 89692769 89692769 G > A PTEN NM_000314.4:c.254-1G>A
1/10293 5.0e-05 1 Pathogenic
View 10 89711913 89711913 T > G PTEN NM_000314.4:c.531T>G
NP_000305.3:p.Tyr177Ter
1/10293 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?
2/9594 0.0001 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
8/11422 0.00035 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
1/9594 5.0e-05 1 Pathogenic
View 11 299504 299504 G > A IFITM5 NM_001025295.2:c.-14C>T
1/9555 5.0e-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
1/9594 5.0e-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
1/9555 5.0e-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
2/11422 9.0e-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
1/11422 4.0e-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
5/11422 0.00026 1 Pathogenic
View 11 2193087 2193087 G > A 2/11383 9.0e-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
2/9594 0.0001 1 Pathogenic
View 11 5247987 5247987 G > - HBB NM_000518.4:c.135del
NP_000509.1:p.Phe46LeufsTer16
1/11422 4.0e-05 1 Pathogenic
View 11 5247993 5247996 AAAG > - HBB NM_000518.4:c.126_129del
NP_000509.1:p.Phe42LeufsTer19
2/11422 0.00013 1 Pathogenic
View 11 5248232 5248232 T > A HBB NM_000518.4:c.20A>T
NP_000509.1:p.Glu7Val
88/11422 0.00416 1 Pathogenic
View 11 5248233 5248233 C > T HBB NM_000518.4:c.19G>A
NP_000509.1:p.Glu7Lys
17/11422 0.00074 1 Pathogenic
View 11 6638385 6638385 C > G TPP1 NM_000391.3:c.509-1G>C
10/11422 0.00044 1 Pathogenic
View 11 17424218 17424218 G > A ABCC8 NM_000352.3:c.3640C>T
NP_000343.2:p.Arg1214Trp
3/11765 0.00013 1 Pathogenic
View 11 36595629 36595629 A > - RAG1 ENST00000299440.5:c.775del
ENSP00000299440.5:p.Ser259AlafsTer5
1/11422 9.0e-05 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
45/11422 0.00197 1 Pathogenic
Displaying 50 through 100 of 574 variants