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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 76903237 76903237 A > T MYO7A MYO7A NM_000260.3:c.4066A>T
NM_001127180.1:c.4066A>T
NP_000251.3:p.Ser1356Cys
NP_001120652.1:p.Ser1356Cys
1/8745 6.0e-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
1/6955 7.0e-05 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
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 11 103153798 103153798 C > T DYNC2H1 DYNC2H1 NM_001080463.1:c.10895C>T
NM_001377.2:c.10874C>T
NP_001073932.1:p.Ala3632Val
NP_001368.2:p.Ala3625Val
2/8745 0.00011 3 non_synonymous Uncertain Significance
View 11 108018032 108018039 ATGCCTTG > - ACAT1 NM_000019.3:c.1200_1207del
NP_000010.1:p.His400GlnfsTer57
2/8745 0.00011 2 frameshift Uncertain Significance
View 11 108180945 108180945 G > C ATM ENST00000278616.4:c.5821G>C
ENSP00000278616.4:p.Val1941Leu
7/8745 0.0004 3 Uncertain Significance
View 11 108206648 108206648 C > T ATM ENST00000278616.4:c.8228C>T
ENSP00000278616.4:p.Thr2743Met
7/8745 0.0004 3 non_synonymous Uncertain Significance
View 11 111657193 111657193 A > G ALG9 ALG9 ALG9 ALG9 ENST00000531154.1:c.1272T>C
NM_001077691.1:c.1272T>C
NM_001077692.1:c.1251T>C
ENST00000398006.2:c.1251T>C
ENSP00000435517.1:p.Tyr424=
NP_001071159.1:p.Tyr424=
NP_001071160.1:p.Tyr417=
ENSP00000381090.2:p.Tyr417=
1/8745 6.0e-05 4 synonymous Uncertain Significance
View 11 111708280 111708280 G > A ALG9 ALG9 ALG9 ALG9 ENST00000531154.1:c.870C>T
NM_001077691.1:c.870C>T
NM_001077692.1:c.849C>T
ENST00000398006.2:c.849C>T
ENSP00000435517.1:p.Thr290=
NP_001071159.1:p.Thr290=
NP_001071160.1:p.Thr283=
ENSP00000381090.2:p.Thr283=
146/8745 0.00835 4 synonymous Uncertain Significance
View 11 111742157 111742157 C > G 2/8745 0.00011 4 Uncertain Significance
View 11 118221410 118221410 C > T CD3G NM_000073.2:c.439+12C>T
5/8706 0.00029 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
2/6955 0.00014 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
1/6955 7.0e-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
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 11 118461060 118461060 C > T ARCN1 ARCN1 NM_001142281.1:c.559C>T
NM_001655.4:c.823C>T
NP_001135753.1:p.His187Tyr
NP_001646.2:p.His275Tyr
1/6916 7.0e-05 3 non_synonymous Uncertain Significance
View 11 118972241 118972241 C > T DPAGT1 NM_001382.3:c.125G>A
NP_001373.2:p.Cys42Tyr
13/8745 0.00074 3 non_synonymous Uncertain Significance
View 11 119077252 119077252 A > T CBL NM_005188.3:c.125A>T
NP_005179.2:p.His42Leu
3/6955 0.00022 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
3/6955 0.00022 3 non_synonymous Uncertain Significance
View 11 121016463 121016463 C > T TECTA NM_005422.2:c.3743C>T
NP_005413.2:p.Pro1248Leu
10/6955 0.00072 3 Uncertain Significance
View 11 121039395 121039395 C > A TECTA NM_005422.2:c.5760C>A
NP_005413.2:p.Asn1920Lys
1/6955 7.0e-05 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
1/6955 7.0e-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
15/6955 0.00108 3 non_synonymous Uncertain Significance
View 11 126294582 126294582 C > G KIRREL3 NM_032531.3:c.2230G>C
NP_115920.1:p.Asp744His
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 11 128709105 128709105 T > C KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.1091A>G
NM_153767.3:c.1034A>G
NM_153766.2:c.1034A>G
NM_153764.2:c.1034A>G
NM_153765.2:c.1085A>G
NP_000211.1:p.Asp364Gly
NP_722451.1:p.Asp345Gly
NP_722450.1:p.Asp345Gly
NP_722448.1:p.Asp345Gly
NP_722449.3:p.Asp362Gly
4/8745 0.00023 3 non_synonymous Uncertain Significance
View 11 128709959 128709959 G > A KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.237C>T
NM_153767.3:c.180C>T
NM_153766.2:c.180C>T
NM_153764.2:c.180C>T
NM_153765.2:c.231C>T
NP_000211.1:p.Tyr79=
NP_722451.1:p.Tyr60=
NP_722450.1:p.Tyr60=
NP_722448.1:p.Tyr60=
NP_722449.3:p.Tyr77=
3/8745 0.00017 3 Uncertain Significance
View 12 4764023 4764023 C > T NDUFA9 NM_005002.4:c.253C>T
NP_004993.1:p.Arg85Trp
5/6955 0.00036 3 non_synonymous Uncertain Significance
View 12 7354874 7354874 T > C PEX5 PEX5 PEX5 PEX5 PEX5 NM_001131026.1:c.680T>C
NM_001131025.1:c.680T>C
NM_000319.4:c.680T>C
NM_001131024.1:c.643-334T>C
NM_001131023.1:c.725T>C
NP_001124498.1:p.Val227Ala
NP_001124497.1:p.Val227Ala
NP_000310.2:p.Val227Ala
NP_001124495.1:p.Val242Ala
1/8745 6.0e-05 3 non_synonymous Uncertain Significance
View 12 7356150 7356150 G > A PEX5 PEX5 PEX5 PEX5 PEX5 NM_001131026.1:c.966+3G>A
NM_001131025.1:c.966+3G>A
NM_000319.4:c.942+3G>A
NM_001131024.1:c.855+3G>A
NM_001131023.1:c.1011+3G>A
4/8745 0.00023 3 five_prime_flank Uncertain Significance
View 12 13716179 13716179 C > T GRIN2B NM_000834.3:c.3993G>A
NP_000825.2:p.Met1331Ile
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 12 14778781 14778781 C > T GUCY2C NM_004963.3:c.2318G>A
NP_004954.2:p.Arg773Gln
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 12 14834395 14834395 C > T GUCY2C NM_004963.3:c.628G>A
NP_004954.2:p.Glu210Lys
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 12 15037817 15037817 C > G MGP MGP NM_001190839.1:c.66G>C
NM_000900.3:c.62-638G>C
NP_001177768.1:p.Glu22Asp
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 12 21008031 21008031 A > G SLCO1B3 ENST00000381545.3:c.154A>G
ENSP00000370956.3:p.Ile52Val
13/7355 0.00088 3 non_synonymous Uncertain Significance
View 12 21715958 21715958 T > A GYS2 NM_021957.3:c.956A>T
NP_068776.2:p.Asp319Val
1/6955 7.0e-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_001257144.1:c.1160_1165del
NM_030653.3:c.1160_1165del
NM_152438.1:c.1160_1165del
NP_004390.3:p.Asp387_Gln388del
NP_001244074.1:p.Asp361_Gln362del
NP_001244073.1:p.Asp387_Gln388del
NP_085911.2:p.Asp387_Gln388del
NP_689651.1:p.Asp387_Gln388del
2/6955 0.00014 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_001257144.1:c.1523T>G
NM_030653.3:c.1523T>G
NM_152438.1:c.1523T>G
NP_004390.3:p.Leu508Arg
NP_001244074.1:p.Leu482Arg
NP_001244073.1:p.Leu508Arg
NP_085911.2:p.Leu508Arg
NP_689651.1:p.Leu508Arg
2/6955 0.00014 1 Uncertain Significance
View 12 32777929 32777929 A > G FGD4 NM_139241.2:c.1562A>G
NP_640334.2:p.Asp521Gly
8/8745 0.00046 3 non_synonymous Uncertain Significance
View 12 32900298 32900299 - > T YARS2 NM_001040436.2:c.1275-2dupA
22/6955 0.00158 2 acceptor_site Uncertain Significance
View 12 42854070 42854070 T > G PRICKLE1 PRICKLE1 PRICKLE1 PRICKLE1 NM_001144882.1:c.2037A>C
NM_001144881.1:c.2037A>C
NM_001144883.1:c.2037A>C
NM_153026.2:c.2037A>C
NP_001138354.1:p.Arg679Ser
NP_001138353.1:p.Arg679Ser
NP_001138355.1:p.Arg679Ser
NP_694571.2:p.Arg679Ser
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 12 49425854 49425854 G > A KMT2D NM_003482.3:c.12634C>T
NP_003473.3:p.Arg4212Trp
3/6955 0.00022 3 non_synonymous Uncertain Significance
View 12 49427210 49427210 C > T KMT2D NM_003482.3:c.11278G>A
NP_003473.3:p.Gly3760Ser
3/6955 0.00022 3 non_synonymous Uncertain Significance
View 12 49428255 49428255 C > T KMT2D NM_003482.3:c.10445G>A
NP_003473.3:p.Arg3482Gln
3/6955 0.00022 3 non_synonymous Uncertain Significance
View 12 49428389 49428389 G > C KMT2D NM_003482.3:c.10416C>G
NP_003473.3:p.Asn3472Lys
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 12 49430947 49430947 T > G KMT2D NM_003482.3:c.10192A>C
NP_003473.3:p.Met3398Leu
9/6955 0.00065 1 Uncertain Significance
View 12 49431477 49431477 G > T KMT2D NM_003482.3:c.9662C>A
NP_003473.3:p.Thr3221Asn
4/6955 0.00029 4 non_synonymous Uncertain Significance
View 12 49432561 49432561 G > A KMT2D NM_003482.3:c.8578C>T
NP_003473.3:p.Arg2860Cys
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 12 49434324 49434324 C > T KMT2D NM_003482.3:c.7229G>A
NP_003473.3:p.Arg2410Gln
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 12 49434522 49434522 C > T KMT2D NM_003482.3:c.7031G>A
NP_003473.3:p.Gly2344Asp
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 12 49440056 49440056 G > A KMT2D NM_003482.3:c.4570C>T
NP_003473.3:p.Arg1524Cys
4/6955 0.00029 3 non_synonymous Uncertain Significance
View 12 51072543 51072543 G > C DIP2B NM_173602.2:c.998G>C
NP_775873.2:p.Cys333Ser
2/6955 0.00014 3 non_synonymous Uncertain Significance
Displaying 150 through 200 of 1,125 variants