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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 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
1/5101 0.0001 1 Pathogenic
View 11 5247993 5247996 AAAG > - HBB NM_000518.4:c.126_129del
NP_000509.1:p.Phe42LeufsTer19
2/6913 0.00022 1 Pathogenic
View 11 5248232 5248232 T > A HBB NM_000518.4:c.20A>T
NP_000509.1:p.Glu7Val
50/6913 0.00398 1 Pathogenic
View 11 5248233 5248233 C > T HBB NM_000518.4:c.19G>A
NP_000509.1:p.Glu7Lys
9/6913 0.00065 1 Pathogenic
View 11 6638385 6638385 C > G TPP1 NM_000391.3:c.509-1G>C
5/6913 0.00036 1 Pathogenic
View 11 17424218 17424218 G > A ABCC8 NM_000352.3:c.3640C>T
NP_000343.2:p.Arg1214Trp
3/7003 0.00021 1 Pathogenic
View 11 36595629 36595629 A > - RAG1 ENST00000299440.5:c.775del
ENSP00000299440.5:p.Ser259AlafsTer5
1/6913 0.00014 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
32/6913 0.00231 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
18/5771 0.00156 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
1/5119 0.0001 2 premature_stop Pathogenic
View 11 65978677 65978677 C > T PACS1 NM_018026.3:c.607C>T
NP_060496.2:p.Arg203Trp
1/5119 0.0001 1 Pathogenic
View 11 66293652 66293652 T > G BBS1 NM_024649.4:c.1169T>G
NP_078925.3:p.Met390Arg
40/5119 0.004 1 Pathogenic
View 11 68701322 68701322 C > T IGHMBP2 NM_002180.2:c.1478C>T
NP_002171.2:p.Thr493Ile
6/6913 0.00043 1 Pathogenic
View 11 68703756 68703756 G > A IGHMBP2 NM_002180.2:c.1808G>A
NP_002171.2:p.Arg603His
5/6913 0.00043 1 Pathogenic
View 11 71146886 71146886 C > G DHCR7 DHCR7 NM_001360.2:c.964-1G>C
NM_001163817.1:c.964-1G>C
83/6913 0.006 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?
3/6913 0.00022 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
9/6913 0.00065 1 Pathogenic
View 11 103187273 103187273 G > A DYNC2H1 DYNC2H1 NM_001080463.1:c.11671-1G>A
NM_001377.2:c.11650-1G>A
1/6913 7.0e-05 2 acceptor_site Pathogenic
View 11 108010834 108010834 C > T ACAT1 NM_000019.3:c.622C>T
NP_000010.1:p.Arg208Ter
3/6913 0.00022 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
1/5119 0.0001 2 premature_stop Pathogenic
View 11 119148880 119148880 A > C CBL NM_005188.3:c.1100A>C
NP_005179.2:p.Gln367Pro
1/5119 0.0001 1 Pathogenic
View 12 5021268 5021268 G > C KCNA1 NM_000217.2:c.724G>C
NP_000208.2:p.Ala242Pro
1/5119 0.0001 1 Pathogenic
View 12 6143978 6143978 C > T VWF NM_000552.3:c.2561G>A
NP_000543.2:p.Arg854Gln
42/5119 0.0042 1 Pathogenic
View 12 48373317 48373317 G > A COL2A1 COL2A1 NM_001844.4:c.2710C>T
NM_033150.2:c.2503C>T
NP_001835.3:p.Arg904Cys
NP_149162.2:p.Arg835Cys
1/5119 0.0001 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
1/5119 0.0001 1 non_synonymous Pathogenic
View 12 49445620 49445621 - > A KMT2D NM_003482.3:c.1845dupT
NP_003473.3:p.Pro616SerfsTer7
1/5119 0.0001 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
1/6913 7.0e-05 1 Pathogenic
View 12 102147248 102147249 GA > - GNPTAB NM_024312.4:c.3503_3504del
NP_077288.2:p.Leu1168GlnfsTer5
22/6913 0.00159 1 Pathogenic
View 12 103234252 103234252 T > C PAH ENST00000553106.1:c.1241A>G
ENSP00000448059.1:p.Tyr414Cys
8/6913 0.00058 1 Pathogenic
View 12 103234271 103234271 G > A PAH ENST00000553106.1:c.1222C>T
ENSP00000448059.1:p.Arg408Trp
12/6913 0.00087 1 Pathogenic
View 12 103238146 103238146 C > A PAH ENST00000553106.1:c.1033G>T
ENSP00000448059.1:p.Ala345Ser
1/6913 7.0e-05 1 Pathogenic
View 12 103246653 103246653 C > T PAH ENST00000553106.1:c.782G>A
ENSP00000448059.1:p.Arg261Gln
9/6913 0.00065 1 Pathogenic
View 12 103249093 103249093 C > A PAH ENST00000553106.1:c.527G>T
ENSP00000448059.1:p.Arg176Leu
3/6913 0.00022 1 Pathogenic
View 12 103306594 103306594 A > G PAH ENST00000553106.1:c.143T>C
ENSP00000448059.1:p.Leu48Ser
8/6913 0.00058 1 Pathogenic
View 12 109994886 109994886 G > A MMAB MMAB NR_038118.1:n.860C>T
NM_052845.3:c.700C>T
NP_443077.1:p.Gln234Ter
4/6913 0.00029 1 Pathogenic
View 12 112888156 112888156 A > C PTPN11 PTPN11 NM_002834.3:c.172A>C
NM_080601.1:c.172A>C
NP_002825.3:p.Asn58His
NP_542168.1:p.Asn58His
1/5119 0.0001 1 Pathogenic
View 12 112888198 112888198 G > T PTPN11 PTPN11 NM_002834.3:c.214G>T
NM_080601.1:c.214G>T
NP_002825.3:p.Ala72Ser
NP_542168.1:p.Ala72Ser
1/5119 0.0001 1 Pathogenic
View 12 112888202 112888202 C > T PTPN11 PTPN11 NM_002834.3:c.218C>T
NM_080601.1:c.218C>T
NP_002825.3:p.Thr73Ile
NP_542168.1:p.Thr73Ile
1/5119 0.0001 1 Pathogenic
View 12 112915523 112915523 A > G PTPN11 PTPN11 NM_002834.3:c.922A>G
NM_080601.1:c.922A>G
NP_002825.3:p.Asn308Asp
NP_542168.1:p.Asn308Asp
4/5119 0.00039 1 Pathogenic
View 12 112926258 112926258 G > C PTPN11 NM_002834.3:c.1391G>C
NP_002825.3:p.Gly464Ala
1/5119 0.0001 1 Pathogenic
View 12 112926897 112926897 A > C PTPN11 NM_002834.3:c.1517A>C
NP_002825.3:p.Gln506Pro
1/5119 0.0001 1 Pathogenic
View 12 114836432 114836432 G > - TBX5 TBX5 TBX5 NM_181486.2:c.456del
NM_000192.3:c.456del
NM_080717.2:c.306del
NP_852259.1:p.Val153SerfsTer21
NP_000183.2:p.Val153SerfsTer21
NP_542448.1:p.Val103SerfsTer21
1/5119 0.0001 1 Pathogenic
View 13 20763582 20763582 C > A GJB2 NM_004004.5:c.139G>T
NP_003995.2:p.Glu47Ter
6/6913 0.00043 1 Pathogenic
View 13 20763686 20763686 C > - GJB2 NM_004004.5:c.35del
NP_003995.2:p.Gly12ValfsTer2
150/6913 0.01107 1 Pathogenic
View 13 31843415 31843415 G > A B3GLCT NM_194318.3:c.660+1G>A
5/5119 0.00049 1 Pathogenic
View 13 41381515 41381515 G > A TPTE2P5 SLC25A15 TPTE2P5 NR_038258.1:n.623-6655C>T
NM_014252.3:c.538G>A
NR_038259.1:n.452-6655C>T
NP_055067.1:p.Glu180Lys
2/6913 0.00014 1 Pathogenic
View 13 108861713 108861713 T > - LIG4 LIG4 LIG4 NM_002312.3:c.1904del
NM_206937.1:c.1904del
NM_001098268.1:c.1904del
NP_002303.2:p.Lys635ArgfsTer10
NP_996820.1:p.Lys635ArgfsTer10
NP_001091738.1:p.Lys635ArgfsTer10
2/6913 0.00014 1 Pathogenic
View 14 24729019 24729019 T > C TGM1 NM_000359.2:c.877-2A>G
12/6913 0.00087 1 Pathogenic
View 14 24729150 24729150 C > T TGM1 NM_000359.2:c.872G>A
NP_000350.1:p.Gly291Asp
2/6913 0.00014 1 Pathogenic
View 14 50628269 50628269 G > C SOS2 NM_006939.2:c.1127C>G
NP_008870.2:p.Thr376Ser
1/5119 0.0001 1 Pathogenic
Displaying 50 through 100 of 332 variants