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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 45827853 45827855 CTT > - SLC35C1 SLC35C1 SLC35C1 NM_001145265.1:c.464_466del
NM_018389.4:c.503_505del
NM_001145266.1:c.464_466del
NP_001138737.1:p.Phe155del
NP_060859.4:p.Phe168del
NP_001138738.1:p.Phe155del
7/6913 0.00051 3 Uncertain Significance
View 11 62459866 62459866 G > A BSCL2 BSCL2 HNRNPUL2-BSCL2 BSCL2 BSCL2 BSCL2 NM_032667.6:c.653C>T
NR_037949.1:n.1447C>T
NR_037946.1:n.3365C>T
NM_001130702.2:c.653C>T
NM_001122955.3:c.845C>T
NR_037948.1:n.1447C>T
NP_116056.3:p.Ala218Val
NP_001124174.2:p.Ala218Val
NP_001116427.1:p.Ala282Val
14/5119 0.00137 3 non_synonymous Uncertain Significance
View 11 65487792 65487792 T > A RNASEH2C NM_032193.3:c.269A>T
NP_115569.2:p.Lys90Met
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View 11 65487793 65487793 T > C RNASEH2C NM_032193.3:c.268A>G
NP_115569.2:p.Lys90Glu
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View 11 66113701 66113701 A > G B4GAT1 NM_006876.2:c.1067T>C
NP_006867.1:p.Leu356Pro
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 11 66282033 66282033 C > G BBS1 NM_024649.4:c.316C>G
NP_078925.3:p.Leu106Val
5/5119 0.00049 3 non_synonymous Uncertain Significance
View 11 66293661 66293661 G > A BBS1 NM_024649.4:c.1178G>A
NP_078925.3:p.Arg393Gln
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 11 66616478 66616478 C > A PC PC PC NM_000920.3:c.3429G>T
NM_022172.2:c.3429G>T
NM_001040716.1:c.3429G>T
NP_000911.2:p.Met1143Ile
NP_071504.2:p.Met1143Ile
NP_001035806.1:p.Met1143Ile
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 11 66617122 66617122 C > T PC PC PC NM_000920.3:c.3107G>A
NM_022172.2:c.3107G>A
NM_001040716.1:c.3107G>A
NP_000911.2:p.Arg1036His
NP_071504.2:p.Arg1036His
NP_001035806.1:p.Arg1036His
19/6913 0.00137 3 non_synonymous Uncertain Significance
View 11 66631259 66631259 C > T PC PC PC NM_000920.3:c.1354G>A
NM_022172.2:c.1354G>A
NM_001040716.1:c.1354G>A
NP_000911.2:p.Val452Ile
NP_071504.2:p.Val452Ile
NP_001035806.1:p.Val452Ile
5/6913 0.00036 3 non_synonymous Uncertain Significance
View 11 66633650 66633653 CCGC > - PC PC PC NM_000920.3:c.1185+5_1185+8del
NM_022172.2:c.1185+5_1185+8del
NM_001040716.1:c.1185+5_1185+8del
6/6913 0.00043 3 five_prime_flank Uncertain Significance
View 11 67763325 67763325 G > C UNC93B1 NM_030930.2:c.1119C>G
NP_112192.2:p.Ser373Arg
12/6913 0.00087 3 non_synonymous Uncertain Significance
View 11 67800683 67800683 G > A NDUFS8 NM_002496.3:c.305G>A
NP_002487.1:p.Arg102His
4/6913 0.00029 3 Uncertain Significance
View 11 67814983 67814983 G > A TCIRG1 TCIRG1 ENST00000265686.3:c.1249G>A
ENST00000532635.1:c.601G>A
ENSP00000265686.3:p.Ala417Thr
ENSP00000434407.1:p.Ala201Thr
61/6913 0.00441 3 Uncertain Significance
View 11 68566781 68566781 T > C CPT1A CPT1A ENST00000376618.2:c.598A>G
ENST00000265641.5:c.598A>G
ENSP00000365803.2:p.Lys200Glu
ENSP00000265641.4:p.Lys200Glu
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View 11 68566822 68566822 T > C CPT1A CPT1A ENST00000376618.2:c.557A>G
ENST00000265641.5:c.557A>G
ENSP00000365803.2:p.Tyr186Cys
ENSP00000265641.4:p.Tyr186Cys
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View 11 68678898 68678898 T > G IGHMBP2 NM_002180.2:c.548-10T>G
15/6913 0.00108 3 polypyrimidine_tract Uncertain Significance
View 11 68703821 68703821 A > G IGHMBP2 NM_002180.2:c.1873A>G
NP_002171.2:p.Thr625Ala
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 11 68704308 68704308 C > T IGHMBP2 NM_002180.2:c.2360C>T
NP_002171.2:p.Pro787Leu
8/6913 0.00058 3 non_synonymous Uncertain Significance
View 11 71150037 71150037 T > C DHCR7 DHCR7 NM_001163817.1:c.719A>G
NM_001360.2:c.719A>G
NP_001157289.1:p.Asn240Ser
NP_001351.2:p.Asn240Ser
6/6913 0.00051 3 Uncertain Significance
View 11 71906793 71906793 T > C FOLR1 FOLR1 FOLR1 FOLR1 NM_000802.3:c.493+2T>C
NM_016724.2:c.493+2T>C
NM_016725.2:c.493+2T>C
NM_016729.2:c.493+2T>C
39/6913 0.00289 1 Uncertain Significance
View 11 76903237 76903237 A > T MYO7A MYO7A NM_001127180.1:c.4066A>T
NM_000260.3:c.4066A>T
NP_001120652.1:p.Ser1356Cys
NP_000251.3:p.Ser1356Cys
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View 11 78277185 78277185 A > T NARS2 NARS2 NM_024678.5:c.506T>A
NM_001243251.1:c.-176T>A
NP_078954.4:p.Phe169Tyr
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 11 78285487 78285487 G > A NARS2 NARS2 NM_024678.5:c.47C>T
NM_001243251.1:c.-541+387C>T
NP_078954.4:p.Ser16Phe
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 11 103153798 103153798 C > T DYNC2H1 DYNC2H1 NM_001377.2:c.10874C>T
NM_001080463.1:c.10895C>T
NP_001368.2:p.Ala3625Val
NP_001073932.1:p.Ala3632Val
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 11 108018032 108018039 ATGCCTTG > - ACAT1 NM_000019.3:c.1200_1207del
NP_000010.1:p.His400GlnfsTer57
2/6913 0.00014 2 frameshift Uncertain Significance
View 11 108180945 108180945 G > C ATM ENST00000278616.4:c.5821G>C
ENSP00000278616.4:p.Val1941Leu
7/6913 0.00051 3 Uncertain Significance
View 11 108206648 108206648 C > T ATM ENST00000278616.4:c.8228C>T
ENSP00000278616.4:p.Thr2743Met
7/6913 0.00051 3 non_synonymous Uncertain Significance
View 11 111657193 111657193 A > G ALG9 ALG9 ALG9 ALG9 NM_024740.2:c.1786T>C
NM_001077691.1:c.1272T>C
NM_001077692.1:c.1251T>C
NM_001077690.1:c.1765T>C
NP_079016.2:p.Tyr596His
NM_001077691.1:c.1272T>C(p.=)
NM_001077692.1:c.1251T>C(p.=)
NP_001071158.1:p.Tyr589His
1/6913 7.0e-05 3 non_synonymous Uncertain Significance
View 11 111708280 111708280 G > A ALG9 ALG9 ALG9 ALG9 NM_024740.2:c.1384C>T
NM_001077691.1:c.870C>T
NM_001077692.1:c.849C>T
NM_001077690.1:c.1363C>T
NP_079016.2:p.His462Tyr
NM_001077691.1:c.870C>T(p.=)
NM_001077692.1:c.849C>T(p.=)
NP_001071158.1:p.His455Tyr
122/6913 0.00882 4 non_synonymous Uncertain Significance
View 11 111742157 111742157 C > G ALG9 ALG9 NM_024740.2:c.50G>C
NM_001077690.1:c.50G>C
NP_079016.2:p.Ser17Thr
NP_001071158.1:p.Ser17Thr
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 11 118344855 118344857 CTT > - KMT2A KMT2A NM_001197104.1:c.2982_2984del
NM_005933.3:c.2982_2984del
NP_001184033.1:p.Ser997del
NP_005924.2:p.Ser997del
2/5119 0.0002 3 in_frame_indel Uncertain Significance
View 11 118373128 118373128 C > T KMT2A KMT2A NM_001197104.1:c.6521C>T
NM_005933.3:c.6512C>T
NP_001184033.1:p.Thr2174Ile
NP_005924.2:p.Thr2171Ile
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 11 118972241 118972241 C > T DPAGT1 NM_001382.3:c.125G>A
NP_001373.2:p.Cys42Tyr
12/6913 0.00087 3 non_synonymous Uncertain Significance
View 11 119077252 119077252 A > T CBL NM_005188.3:c.125A>T
NP_005179.2:p.His42Leu
3/5119 0.00029 3 non_synonymous Uncertain Significance
View 11 121039395 121039395 C > A TECTA NM_005422.2:c.5760C>A
NP_005413.2:p.Asn1920Lys
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 11 126145709 126145709 C > T FOXRED1 FOXRED1 FOXRED1 NM_017547.3:c.754C>T
NR_037648.1:n.940C>T
NR_037647.1:n.700C>T
NP_060017.1:p.Arg252Cys
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 11 126215285 126215285 G > A DCPS ST3GAL4-AS1 NM_014026.3:c.791G>A
NR_033839.1:n.147-3068C>T
NP_054745.1:p.Arg264Gln
14/5119 0.00137 3 non_synonymous Uncertain Significance
View 11 128709105 128709105 T > C KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.1091A>G
NM_153765.2:c.1085A>G
NM_153764.2:c.1034A>G
NM_153766.2:c.1034A>G
NM_153767.3:c.1034A>G
NP_000211.1:p.Asp364Gly
NP_722449.3:p.Asp362Gly
NP_722448.1:p.Asp345Gly
NP_722450.1:p.Asp345Gly
NP_722451.1:p.Asp345Gly
3/6913 0.00022 3 non_synonymous Uncertain Significance
View 11 128709959 128709959 G > A KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.237C>T
NM_153765.2:c.231C>T
NM_153764.2:c.180C>T
NM_153766.2:c.180C>T
NM_153767.3:c.180C>T
NM_000220.4:c.237C>T(p.=)
NM_153765.2:c.231C>T(p.=)
NM_153764.2:c.180C>T(p.=)
NM_153766.2:c.180C>T(p.=)
NM_153767.3:c.180C>T(p.=)
2/6913 0.00014 3 Uncertain Significance
View 12 4764023 4764023 C > T NDUFA9 NM_005002.4:c.253C>T
NP_004993.1:p.Arg85Trp
3/5119 0.00029 3 non_synonymous Uncertain Significance
View 12 7356150 7356150 G > A PEX5 PEX5 PEX5 PEX5 PEX5 NM_000319.4:c.942+3G>A
NM_001131024.1:c.855+3G>A
NM_001131025.1:c.966+3G>A
NM_001131026.1:c.966+3G>A
NM_001131023.1:c.1011+3G>A
4/6913 0.00029 3 five_prime_flank Uncertain Significance
View 12 13716179 13716179 C > T GRIN2B NM_000834.3:c.3993G>A
NP_000825.2:p.Met1331Ile
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 12 14778781 14778781 C > T GUCY2C NM_004963.3:c.2318G>A
NP_004954.2:p.Arg773Gln
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 12 14834395 14834395 C > T GUCY2C NM_004963.3:c.628G>A
NP_004954.2:p.Glu210Lys
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 12 15037817 15037817 C > G MGP MGP NM_000900.3:c.62-638G>C
NM_001190839.1:c.66G>C
NP_001177768.1:p.Glu22Asp
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 12 21008031 21008031 A > G SLCO1B3 ENST00000381545.3:c.154A>G
ENSP00000370956.3:p.Ile52Val
9/5400 0.00083 3 non_synonymous Uncertain Significance
View 12 21715958 21715958 T > A GYS2 NM_021957.3:c.956A>T
NP_068776.2:p.Asp319Val
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 12 31244719 31244724 CAGGAC > - DDX11 DDX11 DDX11 DDX11 DDX11 NM_004399.2:c.1160_1165del
NM_001257145.1:c.1082_1087del
NM_030653.3:c.1160_1165del
NM_001257144.1:c.1160_1165del
NM_152438.1:c.1160_1165del
NP_004390.3:p.Asp387_Gln388del
NP_001244074.1:p.Asp361_Gln362del
NP_085911.2:p.Asp387_Gln388del
NP_001244073.1:p.Asp387_Gln388del
NP_689651.1:p.Asp387_Gln388del
2/5119 0.0002 3 in_frame_indel Uncertain Significance
View 12 31249572 31249572 T > G DDX11 DDX11 DDX11 DDX11 DDX11 NM_004399.2:c.1523T>G
NM_001257145.1:c.1445T>G
NM_030653.3:c.1523T>G
NM_152438.1:c.1523T>G
NM_001257144.1:c.1523T>G
NP_004390.3:p.Leu508Arg
NP_001244074.1:p.Leu482Arg
NP_085911.2:p.Leu508Arg
NP_689651.1:p.Leu508Arg
NP_001244073.1:p.Leu508Arg
2/5119 0.0002 3 non_synonymous Uncertain Significance
Displaying 100 through 150 of 896 variants