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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 108180945 108180945 G > C ATM ENST00000278616.4:c.5821G>C
ENSP00000278616.4:p.Val1941Leu
7/8004 0.00044 3 Uncertain Significance
View 11 108206648 108206648 C > T ATM ENST00000278616.4:c.8228C>T
ENSP00000278616.4:p.Thr2743Met
7/8004 0.00044 3 non_synonymous Uncertain Significance
View 11 111657193 111657193 A > G ALG9 ALG9 ALG9 ALG9 NM_001077691.1:c.1272T>C
NM_001077692.1:c.1251T>C
ENST00000531154.1:c.1272T>C
ENST00000398006.2:c.1251T>C
NP_001071159.1:p.Tyr424=
NP_001071160.1:p.Tyr417=
ENSP00000435517.1:p.Tyr424=
ENSP00000381090.2:p.Tyr417=
1/8004 6.0e-05 4 synonymous Uncertain Significance
View 11 111708280 111708280 G > A ALG9 ALG9 ALG9 ALG9 NM_001077691.1:c.870C>T
NM_001077692.1:c.849C>T
ENST00000531154.1:c.870C>T
ENST00000398006.2:c.849C>T
NP_001071159.1:p.Thr290=
NP_001071160.1:p.Thr283=
ENSP00000435517.1:p.Thr290=
ENSP00000381090.2:p.Thr283=
138/8004 0.00862 4 non_synonymous Uncertain Significance
View 11 111742157 111742157 C > G 2/8004 0.00012 4 Uncertain Significance
View 11 118221410 118221410 C > T CD3G NM_000073.2:c.439+12C>T
5/7965 0.00031 3 five_prime_intronic 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
2/6213 0.00016 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
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 11 118390503 118390503 C > T KMT2A KMT2A NM_001197104.1:c.11317C>T
NM_005933.3:c.11308C>T
NP_001184033.1:p.Leu3773Phe
NP_005924.2:p.Leu3770Phe
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 11 118461060 118461060 C > T ARCN1 ARCN1 NM_001655.4:c.823C>T
NM_001142281.1:c.559C>T
NP_001646.2:p.His275Tyr
NP_001135753.1:p.His187Tyr
1/6174 8.0e-05 3 non_synonymous Uncertain Significance
View 11 118972241 118972241 C > T DPAGT1 NM_001382.3:c.125G>A
NP_001373.2:p.Cys42Tyr
13/8004 0.00081 3 non_synonymous Uncertain Significance
View 11 119077252 119077252 A > T CBL NM_005188.3:c.125A>T
NP_005179.2:p.His42Leu
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 11 119216836 119216836 C > T MFRP C1QTNF5 NM_031433.3:c.191G>A
NM_015645.4:c.-2446G>A
NP_113621.1:p.Arg64His
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 11 121016463 121016463 C > T TECTA NM_005422.2:c.3743C>T
NP_005413.2:p.Pro1248Leu
7/6213 0.00056 3 Uncertain Significance
View 11 121039395 121039395 C > A TECTA NM_005422.2:c.5760C>A
NP_005413.2:p.Asn1920Lys
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 11 126145709 126145709 C > T FOXRED1 FOXRED1 FOXRED1 NR_037648.1:n.940C>T
NM_017547.3:c.754C>T
NR_037647.1:n.700C>T
NP_060017.1:p.Arg252Cys
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 11 126215285 126215285 G > A DCPS GSEC ENST00000263579.4:c.791G>A
NR_033839.1:n.147-3068C>T
ENSP00000263579.4:p.Arg264Gln
15/6213 0.00121 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
4/8004 0.00025 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
NP_000211.1:p.Tyr79=
NP_722449.3:p.Tyr77=
NP_722448.1:p.Tyr60=
NP_722450.1:p.Tyr60=
NP_722451.1:p.Tyr60=
2/8004 0.00012 3 Uncertain Significance
View 12 4764023 4764023 C > T NDUFA9 NM_005002.4:c.253C>T
NP_004993.1:p.Arg85Trp
5/6213 0.0004 3 non_synonymous Uncertain Significance
View 12 7354874 7354874 T > C PEX5 PEX5 PEX5 PEX5 PEX5 NM_001131023.1:c.725T>C
NM_000319.4:c.680T>C
NM_001131026.1:c.680T>C
NM_001131025.1:c.680T>C
NM_001131024.1:c.643-334T>C
NP_001124495.1:p.Val242Ala
NP_000310.2:p.Val227Ala
NP_001124498.1:p.Val227Ala
NP_001124497.1:p.Val227Ala
1/8004 6.0e-05 3 non_synonymous Uncertain Significance
View 12 7356150 7356150 G > A PEX5 PEX5 PEX5 PEX5 PEX5 NM_001131023.1:c.1011+3G>A
NM_000319.4:c.942+3G>A
NM_001131026.1:c.966+3G>A
NM_001131025.1:c.966+3G>A
NM_001131024.1:c.855+3G>A
4/8004 0.00025 3 five_prime_flank Uncertain Significance
View 12 13716179 13716179 C > T GRIN2B NM_000834.3:c.3993G>A
NP_000825.2:p.Met1331Ile
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 12 14778781 14778781 C > T GUCY2C NM_004963.3:c.2318G>A
NP_004954.2:p.Arg773Gln
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 12 14834395 14834395 C > T GUCY2C NM_004963.3:c.628G>A
NP_004954.2:p.Glu210Lys
2/6213 0.00016 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
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 12 21008031 21008031 A > G SLCO1B3 ENST00000381545.3:c.154A>G
ENSP00000370956.3:p.Ile52Val
10/6624 0.00075 3 non_synonymous Uncertain Significance
View 12 21715958 21715958 T > A GYS2 NM_021957.3:c.956A>T
NP_068776.2:p.Asp319Val
1/6213 8.0e-05 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_152438.1:c.1160_1165del
NM_001257144.1:c.1160_1165del
NP_004390.3:p.Asp387_Gln388del
NP_001244074.1:p.Asp361_Gln362del
NP_085911.2:p.Asp387_Gln388del
NP_689651.1:p.Asp387_Gln388del
NP_001244073.1:p.Asp387_Gln388del
2/6213 0.00016 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
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 12 32777929 32777929 A > G FGD4 NM_139241.2:c.1562A>G
NP_640334.2:p.Asp521Gly
8/8004 0.0005 3 non_synonymous Uncertain Significance
View 12 32900298 32900299 - > T YARS2 NM_001040436.2:c.1275-2dupA
18/6213 0.00145 2 acceptor_site Uncertain Significance
View 12 42854070 42854070 T > G PRICKLE1 PRICKLE1 PRICKLE1 PRICKLE1 NM_153026.2:c.2037A>C
NM_001144883.1:c.2037A>C
NM_001144882.1:c.2037A>C
NM_001144881.1:c.2037A>C
NP_694571.2:p.Arg679Ser
NP_001138355.1:p.Arg679Ser
NP_001138354.1:p.Arg679Ser
NP_001138353.1:p.Arg679Ser
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 12 49425854 49425854 G > A KMT2D NM_003482.3:c.12634C>T
NP_003473.3:p.Arg4212Trp
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 12 49427210 49427210 C > T KMT2D NM_003482.3:c.11278G>A
NP_003473.3:p.Gly3760Ser
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 12 49428255 49428255 C > T KMT2D NM_003482.3:c.10445G>A
NP_003473.3:p.Arg3482Gln
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 12 49430947 49430947 T > G KMT2D NM_003482.3:c.10192A>C
NP_003473.3:p.Met3398Leu
9/6213 0.00072 1 Uncertain Significance
View 12 49431477 49431477 G > T KMT2D NM_003482.3:c.9662C>A
NP_003473.3:p.Thr3221Asn
4/6213 0.00032 4 non_synonymous Uncertain Significance
View 12 49432561 49432561 G > A KMT2D NM_003482.3:c.8578C>T
NP_003473.3:p.Arg2860Cys
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 12 49434324 49434324 C > T KMT2D NM_003482.3:c.7229G>A
NP_003473.3:p.Arg2410Gln
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 12 49434522 49434522 C > T KMT2D NM_003482.3:c.7031G>A
NP_003473.3:p.Gly2344Asp
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 12 49440056 49440056 G > A KMT2D NM_003482.3:c.4570C>T
NP_003473.3:p.Arg1524Cys
4/6213 0.00032 3 non_synonymous Uncertain Significance
View 12 51072543 51072543 G > C DIP2B NM_173602.2:c.998G>C
NP_775873.2:p.Cys333Ser
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 12 52162895 52162895 G > A SCN8A SCN8A NM_014191.3:c.3148G>A
NM_001177984.2:c.3148G>A
NP_055006.1:p.Gly1050Ser
NP_001171455.1:p.Gly1050Ser
4/6213 0.00032 3 Uncertain Significance
View 12 52163014 52163014 C > A SCN8A SCN8A NM_014191.3:c.3267C>A
NM_001177984.2:c.3267C>A
NP_055006.1:p.Asn1089Lys
NP_001171455.1:p.Asn1089Lys
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 12 52183055 52183055 C > G SCN8A SCN8A NM_014191.3:c.4282-10C>G
NM_001177984.2:c.4159-10C>G
2/6213 0.00016 3 polypyrimidine_tract Uncertain Significance
View 12 52307831 52307831 G > A ACVRL1 ACVRL1 NM_001077401.1:c.599G>A
NM_000020.2:c.599G>A
NP_001070869.1:p.Arg200Gln
NP_000011.2:p.Arg200Gln
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 12 56398479 56398479 G > A SUOX SUOX SUOX NM_001032386.1:c.1306G>A
NM_000456.2:c.1306G>A
NM_001032387.1:c.1306G>A
NP_001027558.1:p.Glu436Lys
NP_000447.2:p.Glu436Lys
NP_001027559.1:p.Glu436Lys
4/8004 0.00025 3 non_synonymous Uncertain Significance
View 12 56749319 56749320 - > A STAT2 STAT2 NM_198332.1:c.370-4dupT
NM_005419.3:c.382-4dupT
2/6213 0.00016 3 polypyrimidine_tract Uncertain Significance
View 12 57975714 57975714 C > A KIF5A NM_004984.2:c.2971C>A
NP_004975.2:p.Gln991Lys
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
Displaying 150 through 200 of 1,072 variants