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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
1/8004 6.0e-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
642/8004 0.0416 1 ClinVar pathogenic variant Pathogenic
View 10 73082812 73082812 G > A SLC29A3 SLC29A3 SLC29A3 SLC29A3 NM_018344.5:c.300+1G>A
NM_001174098.1:c.300+1G>A
NR_033413.1:n.357+1G>A
NR_033414.1:n.357+1G>A
3/6213 0.00032 1 Pathogenic
View 10 79753125 79753125 G > A POLR3A NM_007055.3:c.2617C>T
NP_008986.2:p.Arg873Ter
4/6213 0.00032 1 Pathogenic
View 10 79769273 79769273 C > T POLR3A NM_007055.3:c.1909+22G>A
31/6174 0.00251 1 Pathogenic
View 10 79769277 79769277 C > T POLR3A NM_007055.3:c.1909+18G>A
2/6174 0.00016 1 Pathogenic
View 10 89692769 89692769 G > A PTEN NM_000314.4:c.254-1G>A
1/6865 7.0e-05 1 ClinVar pathogenic variant Pathogenic
View 10 89711913 89711913 T > G PTEN NM_000314.4:c.531T>G
NP_000305.3:p.Tyr177Ter
1/6865 7.0e-05 1 ClinVar pathogenic variant Pathogenic
View 10 97453654 97453654 C > A TCTN3 TCTN3 NM_001143973.1:c.3G>T
NM_015631.5:c.3G>T
NP_001137445.1:p.Met1?
NP_056446.4:p.Met1?
2/6213 0.00016 1 Pathogenic
View 10 123274794 123274794 T > C FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NM_001144916.1:c.779A>G
NM_001144914.1:c.788A>G
NM_000141.4:c.1124A>G
NM_001144919.1:c.860A>G
NR_073009.1:n.1574A>G
NM_022970.3:c.1127A>G
NM_001144915.1:c.857A>G
NM_001144918.1:c.779A>G
NM_001144913.1:c.1127A>G
NM_023029.2:c.857A>G
NM_001144917.1:c.939+4699A>G
NP_001138388.1:p.Tyr260Cys
NP_001138386.1:p.Tyr263Cys
NP_000132.3:p.Tyr375Cys
NP_001138391.1:p.Tyr287Cys
NP_075259.4:p.Tyr376Cys
NP_001138387.1:p.Tyr286Cys
NP_001138390.1:p.Tyr260Cys
NP_001138385.1:p.Tyr376Cys
NP_075418.1:p.Tyr286Cys
1/6213 8.0e-05 1 Pathogenic
View 11 299504 299504 G > A IFITM5 NM_001025295.2:c.-14C>T
1/6174 8.0e-05 1 Pathogenic
View 11 2181258 2181258 C > T INS-IGF2 INS INS INS-IGF2 INS NR_003512.3:n.246+757G>A
NM_001185097.1:c.188-31G>A
NM_001185098.1:c.188-31G>A
NM_001042376.2:c.187+757G>A
NM_000207.2:c.188-31G>A
1/6174 8.0e-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
2/6213 0.00016 1 Pathogenic
View 11 5247993 5247996 AAAG > - HBB NM_000518.4:c.126_129del
NP_000509.1:p.Phe42LeufsTer19
2/8004 0.00019 1 Pathogenic
View 11 5248232 5248232 T > A HBB NM_000518.4:c.20A>T
NP_000509.1:p.Glu7Val
59/8004 0.00406 1 Pathogenic
View 11 5248233 5248233 C > T HBB NM_000518.4:c.19G>A
NP_000509.1:p.Glu7Lys
11/8004 0.00069 1 Pathogenic
View 11 6638385 6638385 C > G TPP1 NM_000391.3:c.509-1G>C
5/8004 0.00031 1 Pathogenic
View 11 17424218 17424218 G > A ABCC8 NM_000352.3:c.3640C>T
NP_000343.2:p.Arg1214Trp
3/8223 0.00018 1 Pathogenic
View 11 36595629 36595629 A > - RAG1 ENST00000299440.5:c.775del
ENSP00000299440.5:p.Ser259AlafsTer5
1/8004 0.00012 1 Pathogenic
View 11 47469631 47469631 G > T RAPSN RAPSN NM_005055.4:c.264C>A
NM_032645.4:c.264C>A
NP_005046.2:p.Asn88Lys
NP_116034.2:p.Asn88Lys
34/8004 0.00212 1 Pathogenic
View 11 64527223 64527223 G > A PYGM PYGM NM_001164716.1:c.148C>T
NM_005609.2:c.148C>T
NP_001158188.1:p.Arg50Ter
NP_005600.1:p.Arg50Ter
27/6865 0.00197 1 Pathogenic
View 11 65307505 65307505 G > A LTBP3 LTBP3 LTBP3 NM_001130144.2:c.3364C>T
NM_021070.4:c.3245-153C>T
NM_001164266.1:c.2894-153C>T
NP_001123616.1:p.Gln1122Ter
1/6213 8.0e-05 1 ClinVar pathogenic variant Pathogenic
View 11 65978677 65978677 C > T PACS1 NM_018026.3:c.607C>T
NP_060496.2:p.Arg203Trp
1/6213 8.0e-05 1 Pathogenic
View 11 66293652 66293652 T > G BBS1 NM_024649.4:c.1169T>G
NP_078925.3:p.Met390Arg
45/6213 0.00378 1 Pathogenic
View 11 68701322 68701322 C > T IGHMBP2 NM_002180.2:c.1478C>T
NP_002171.2:p.Thr493Ile
6/8004 0.00037 1 Pathogenic
View 11 68701332 68701332 C > A IGHMBP2 NM_002180.2:c.1488C>A
NP_002171.2:p.Cys496Ter
2/8004 0.00012 1 Pathogenic
View 11 68703756 68703756 G > A IGHMBP2 NM_002180.2:c.1808G>A
NP_002171.2:p.Arg603His
5/8004 0.00037 1 Pathogenic
View 11 68707126 68707127 AG > - IGHMBP2 NM_002180.2:c.2911_2912del
NP_002171.2:p.Arg971GlufsTer4
3/8004 0.00019 1 Pathogenic
View 11 71146886 71146886 C > G DHCR7 DHCR7 NM_001163817.1:c.964-1G>C
NM_001360.2:c.964-1G>C
103/8004 0.00643 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
14/8004 0.00087 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?
3/8004 0.00019 1 Pathogenic
View 11 103091449 103091449 A > G DYNC2H1 DYNC2H1 NM_001377.2:c.9044A>G
NM_001080463.1:c.9044A>G
NP_001368.2:p.Asp3015Gly
NP_001073932.1:p.Asp3015Gly
9/8004 0.00056 1 Pathogenic
View 11 103187273 103187273 G > A DYNC2H1 DYNC2H1 NM_001377.2:c.11650-1G>A
NM_001080463.1:c.11671-1G>A
1/8004 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 11 108010834 108010834 C > T ACAT1 NM_000019.3:c.622C>T
NP_000010.1:p.Arg208Ter
3/8004 0.00019 1 Pathogenic
View 11 108121753 108121754 AG > - ATM ENST00000278616.4:c.1564_1565del
ENSP00000278616.4:p.Glu522IlefsTer43
3/8004 0.00019 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
1/6213 8.0e-05 2 premature_stop Pathogenic
View 11 119148880 119148880 A > C CBL NM_005188.3:c.1100A>C
NP_005179.2:p.Gln367Pro
2/6213 0.00016 1 Pathogenic
View 12 5021268 5021268 G > C KCNA1 NM_000217.2:c.724G>C
NP_000208.2:p.Ala242Pro
1/6213 8.0e-05 1 Pathogenic
View 12 6143978 6143978 C > T VWF ENST00000261405.5:c.2561G>A
ENSP00000261405.5:p.Arg854Gln
55/6213 0.00451 1 Pathogenic
View 12 48373317 48373317 G > A COL2A1 COL2A1 NM_033150.2:c.2503C>T
NM_001844.4:c.2710C>T
NP_149162.2:p.Arg835Cys
NP_001835.3:p.Arg904Cys
1/6213 8.0e-05 1 Pathogenic
View 12 48374723 48374723 C > A COL2A1 COL2A1 NM_033150.2:c.2285G>T
NM_001844.4:c.2492G>T
NP_149162.2:p.Gly762Val
NP_001835.3:p.Gly831Val
1/6213 8.0e-05 1 non_synonymous Pathogenic
View 12 49420661 49420661 G > A KMT2D NM_003482.3:c.15088C>T
NP_003473.3:p.Arg5030Cys
1/6213 8.0e-05 1 Pathogenic
View 12 49432295 49432298 TGGA > - KMT2D NM_003482.3:c.8841_8844del
NP_003473.3:p.His2947GlnfsTer56
1/6213 8.0e-05 1 frameshift Pathogenic
View 12 49445620 49445621 - > A KMT2D NM_003482.3:c.1845dupT
NP_003473.3:p.Pro616SerfsTer7
1/6213 8.0e-05 2 frameshift Pathogenic
View 12 49579508 49579508 C > T TUBA1A TUBA1A TUBA1A NM_001270400.1:c.536G>A
NM_001270399.1:c.641G>A
NM_006009.3:c.641G>A
NP_001257329.1:p.Arg179His
NP_001257328.1:p.Arg214His
NP_006000.2:p.Arg214His
1/8004 6.0e-05 1 Pathogenic
View 12 52200900 52200900 A > G SCN8A SCN8A NM_014191.3:c.5630A>G
NM_001177984.2:c.5507A>G
NP_055006.1:p.Asn1877Ser
NP_001171455.1:p.Asn1836Ser
1/6213 8.0e-05 1 Pathogenic
View 12 53715207 53715207 G > T AAAS AAAS NM_001173466.1:c.43C>A
NM_015665.5:c.43C>A
NP_001166937.1:p.Gln15Lys
NP_056480.1:p.Gln15Lys
5/8004 0.00031 1 Pathogenic
View 12 88524101 88524101 G > A CEP290 ENST00000552810.1:c.613C>T
ENSP00000448012.1:p.Arg205Ter
2/8004 0.00012 1 Pathogenic
View 12 102147248 102147249 GA > - GNPTAB NM_024312.4:c.3503_3504del
NP_077288.2:p.Leu1168GlnfsTer5
22/8004 0.00137 1 Pathogenic
View 12 103234252 103234252 T > C PAH ENST00000553106.1:c.1241A>G
ENSP00000448059.1:p.Tyr414Cys
8/8004 0.0005 1 Pathogenic
Displaying 50 through 100 of 407 variants