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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 2 37349743 37349743 C > T EIF2AK2 EIF2AK2 EIF2AK2 NM_001135651.2:c.973G>A
NM_001135652.2:c.850G>A
NM_002759.3:c.973G>A
NP_001129123.1:p.Gly325Ser
NP_001129124.1:p.Gly284Ser
NP_002750.1:p.Gly325Ser
1/13105 4.0e-05 2 non_synonymous Likely pathogenic
View 2 50779753 50779754 AT > - NRXN1 NRXN1 NM_001135659.1:c.1850_1851del
NM_004801.4:c.1730_1731del
NP_001129131.1:p.His617ArgfsTer26
NP_004792.1:p.His577ArgfsTer26
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 2 58388668 58388670 ATA > - FANCL FANCL NM_001114636.1:c.1022_1024del
NM_018062.3:c.1007_1009del
NP_001108108.1:p.Ile341_Cys342del
NP_060532.2:p.Ile336_Cys337del
13/13144 0.00049 1 Likely pathogenic
View 2 71778182 71778183 - > TGGG DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF NM_001130455.1:c.1538_1541dupTGGG
NM_001130979.1:c.1628_1631dupTGGG
NM_001130978.1:c.1535_1538dupTGGG
NM_003494.3:c.1535_1538dupTGGG
NM_001130980.1:c.1586_1589dupTGGG
NM_001130987.1:c.1589_1592dupTGGG
NM_001130977.1:c.1493_1496dupTGGG
NM_001130985.1:c.1589_1592dupTGGG
NM_001130976.1:c.1493_1496dupTGGG
NM_001130986.1:c.1496_1499dupTGGG
NM_001130983.1:c.1538_1541dupTGGG
NM_001130984.1:c.1496_1499dupTGGG
NM_001130981.1:c.1586_1589dupTGGG
NM_001130982.1:c.1631_1634dupTGGG
NP_001123927.1:p.Phe515GlyfsTer57
NP_001124451.1:p.Phe545GlyfsTer57
NP_001124450.1:p.Phe514GlyfsTer57
NP_003485.1:p.Phe514GlyfsTer57
NP_001124452.1:p.Phe531GlyfsTer57
NP_001124459.1:p.Phe532GlyfsTer57
NP_001124449.1:p.Phe500GlyfsTer57
NP_001124457.1:p.Phe532GlyfsTer57
NP_001124448.1:p.Phe500GlyfsTer57
NP_001124458.1:p.Phe501GlyfsTer57
NP_001124455.1:p.Phe515GlyfsTer57
NP_001124456.1:p.Phe501GlyfsTer57
NP_001124453.1:p.Phe531GlyfsTer57
NP_001124454.1:p.Phe546GlyfsTer57
2/13144 8.0e-05 1 ClinVar pathogenic variant Likely pathogenic
View 2 72360180 72360189 CGGTAGCCGC > - CYP26B1 CYP26B1 NM_001277742.1:c.884_893del
NM_019885.3:c.1109_1118del
NP_001264671.1:p.Gly295AlafsTer37
NP_063938.1:p.Gly370AlafsTer37
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 2 80782921 80782921 T > - CTNNA2 CTNNA2 NM_001164883.1:c.1644del
NM_004389.3:c.1644del
NP_001158355.1:p.Arg549GlufsTer33
NP_004380.2:p.Arg549GlufsTer33
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 2 84668442 84668442 G > A SUCLG1 NM_003849.3:c.460C>T
NP_003840.2:p.Arg154Ter
2/14969 7.0e-05 2 premature_stop Likely pathogenic
View 2 85786166 85786166 G > A GGCX GGCX ENST00000233838.4:c.247C>T
ENST00000430215.3:c.76C>T
ENSP00000233838.3:p.Arg83Trp
ENSP00000408045.3:p.Arg26Trp
10/13585 0.00037 1 Likely pathogenic
View 2 86302276 86302276 C > A POLR1A NM_015425.3:c.1488G>T
NP_056240.2:p.Met496Ile
1/13105 4.0e-05 1 non_synonymous Likely pathogenic
View 2 88885358 88885358 C > T EIF2AK3 NM_004836.5:c.1650+1G>A
2/13810 7.0e-05 2 donor_site Likely pathogenic
View 2 99778789 99778789 G > - LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 NR_037935.1:n.854del
NM_015929.3:c.369del
NR_037936.1:n.530del
NM_001204830.1:c.369del
NM_145198.2:c.369del
NM_145199.2:c.369del
NM_145197.2:c.369del
NP_057013.1:p.Lys123AsnfsTer8
NP_001191759.1:p.Lys123AsnfsTer8
NP_660199.1:p.Lys123AsnfsTer8
NP_660200.1:p.Lys123AsnfsTer8
NP_660198.1:p.Lys123AsnfsTer8
30/13144 0.00114 2 frameshift Likely pathogenic
View 2 121743949 121743949 G > - GLI2 NM_005270.4:c.2055del
NP_005261.2:p.Thr686ArgfsTer9
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 2 122288463 122288463 C > T CLASP1 CLASP1 CLASP1 RNU4ATAC CLASP1 NM_001142273.1:c.196-562G>A
NM_001207051.1:c.196-562G>A
NM_001142274.1:c.196-562G>A
NR_023343.1:n.8C>T
NM_015282.2:c.196-562G>A
7/11983 0.00029 1 Likely pathogenic
View 2 138762746 138762746 C > - HNMT NM_006895.2:c.475del
NP_008826.1:p.His159IlefsTer4
3/13585 0.00011 2 frameshift Likely pathogenic
View 2 166172125 166172125 C > T SCN2A SCN2A SCN2A NM_001040143.1:c.1528C>T
NM_001040142.1:c.1528C>T
NM_021007.2:c.1528C>T
NP_001035233.1:p.Gln510Ter
NP_001035232.1:p.Gln510Ter
NP_066287.2:p.Gln510Ter
1/13144 4.0e-05 2 premature_stop Likely pathogenic
View 2 166785711 166785711 A > - TTC21B NM_024753.4:c.1320del
NP_079029.3:p.Phe440LeufsTer4
2/13144 8.0e-05 1 Likely pathogenic
View 2 166915128 166915128 G > A SCN1A SCN1A SCN1A SCN1A NM_001202435.1:c.335C>T
NM_006920.4:c.335C>T
NM_001165963.1:c.335C>T
NM_001165964.1:c.335C>T
NP_001189364.1:p.Thr112Ile
NP_008851.3:p.Thr112Ile
NP_001159435.1:p.Thr112Ile
NP_001159436.1:p.Thr112Ile
1/13585 4.0e-05 1 Likely pathogenic
View 2 166930082 166930082 A > C SCN1A SCN1A SCN1A SCN1A NM_001202435.1:c.50T>G
NM_006920.4:c.50T>G
NM_001165963.1:c.50T>G
NM_001165964.1:c.50T>G
NP_001189364.1:p.Phe17Cys
NP_008851.3:p.Phe17Cys
NP_001159435.1:p.Phe17Cys
NP_001159436.1:p.Phe17Cys
1/13585 4.0e-05 2 non_synonymous Likely pathogenic
View 2 167055740 167055741 AG > - SCN9A ENST00000409672.1:c.5375_5376del
ENSP00000386306.1:p.Ser1792Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 2 167142920 167142920 T > - SCN9A ENST00000409672.1:c.1528del
ENSP00000386306.1:p.Arg510GlufsTer55
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 2 170063340 170063340 A > T LRP2 NM_004525.2:c.6890T>A
NP_004516.2:p.Leu2297Ter
1/14969 3.0e-05 2 premature_stop Likely pathogenic
View 2 179446718 179446719 AT > - TTN TTN TTN TTN TTN TTN TTN-AS1 TTN-AS1 NM_133437.3:c.39758_39759del
NM_001267550.1:c.66377_66378del
NM_001256850.1:c.61454_61455del
NM_003319.4:c.39182_39183del
NM_133378.4:c.58673_58674del
NM_133432.3:c.39557_39558del
NR_038271.1:n.596+10544_596+10545del
NR_038272.1:n.2044-579_2044-578del
NP_597681.3:p.Tyr13253Ter
NP_001254479.1:p.Tyr22126Ter
NP_001243779.1:p.Tyr20485Ter
NP_003310.4:p.Tyr13061Ter
NP_596869.4:p.Tyr19558Ter
NP_597676.3:p.Tyr13186Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 2 191109651 191109651 G > A HIBCH HIBCH NM_198047.2:c.853C>T
NM_014362.3:c.853C>T
NP_932164.1:p.Gln285Ter
NP_055177.2:p.Gln285Ter
3/14969 0.0001 2 premature_stop Likely pathogenic
View 2 197081790 197081790 C > T HECW2 ENST00000260983.3:c.4436G>A
ENSP00000260983.2:p.Arg1479Gln
1/13105 4.0e-05 1 curation Likely pathogenic
View 2 197183585 197183585 G > A HECW2 ENST00000260983.3:c.2029C>T
ENSP00000260983.2:p.Gln677Ter
1/13105 4.0e-05 2 premature_stop Likely pathogenic
View 2 207014609 207014609 T > C NDUFS1 NDUFS1 NDUFS1 NDUFS1 NDUFS1 NM_001199983.1:c.23A>G
NM_001199982.1:c.6-2051A>G
NM_001199981.1:c.154-789A>G
NM_005006.6:c.194A>G
NM_001199984.1:c.236A>G
NP_001186912.1:p.Tyr8Cys
NP_004997.4:p.Tyr65Cys
NP_001186913.1:p.Tyr79Cys
3/13144 0.00015 2 curation Likely pathogenic
View 2 210843359 210843359 G > A UNC80 UNC80 NM_182587.3:c.8832G>A
NM_032504.1:c.8847G>A
NP_872393.3:p.Trp2944Ter
NP_115893.1:p.Trp2949Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 2 219513435 219513435 T > - ZNF142 ZNF142 ZNF142 NR_073599.1:n.1943del
NR_073600.1:n.1776del
NM_001105537.2:c.1196del
NP_001099007.1:p.Lys399ArgfsTer43
1/13105 4.0e-05 2 frameshift Likely pathogenic
View 2 219646974 219646974 C > - CYP27A1 NM_000784.3:c.69del
NP_000775.1:p.His23GlnfsTer35
2/15408 6.0e-05 2 curation Likely pathogenic
View 2 219754816 219754816 C > T WNT10A NM_025216.2:c.487C>T
NP_079492.2:p.Arg163Trp
13/14969 0.00043 1 Likely pathogenic
View 2 228176567 228176567 G > A LOC654841 COL4A3 NR_102371.1:n.48-6196C>T
NM_000091.4:c.4994G>A
NP_000082.2:p.Cys1665Tyr
2/14969 7.0e-05 1 Likely pathogenic
View 2 241666296 241666296 G > A KIF1A KIF1A NM_001244008.1:c.4069C>T
NM_004321.6:c.3766C>T
NP_001230937.1:p.Arg1357Trp
NP_004312.2:p.Arg1256Trp
2/13144 8.0e-05 2 curation Likely pathogenic
View 20 3899366 3899366 A > G PANK2 PANK2 PANK2 NM_153640.2:c.712A>G
NM_024960.4:c.712A>G
NM_153638.2:c.1585A>G
NP_705904.1:p.Ile238Val
NP_079236.3:p.Ile238Val
NP_705902.2:p.Ile529Val
4/14969 0.00013 1 Likely pathogenic
View 20 9389349 9389349 C > T PLCB4 PLCB4 PLCB4 NM_182797.2:c.1823C>T
NM_000933.3:c.1823C>T
NM_001172646.1:c.1859C>T
NP_877949.2:p.Ala608Val
NP_000924.3:p.Ala608Val
NP_001166117.1:p.Ala620Val
1/13144 4.0e-05 1 non_synonymous Likely pathogenic
View 20 31369218 31369218 C > T DNMT3B DNMT3B DNMT3B DNMT3B DNMT3B DNMT3B NM_175850.2:c.238C>T
NM_006892.3:c.202C>T
NM_175849.1:c.202C>T
NM_175848.1:c.202C>T
NM_001207056.1:c.202C>T
NM_001207055.1:c.202C>T
NP_787046.1:p.Gln80Ter
NP_008823.1:p.Gln68Ter
NP_787045.1:p.Gln68Ter
NP_787044.1:p.Gln68Ter
NP_001193985.1:p.Gln68Ter
NP_001193984.1:p.Gln68Ter
2/14969 7.0e-05 2 premature_stop Likely pathogenic
View 20 32881889 32881889 G > A AHCY AHCY NM_000687.2:c.293C>T
NM_001161766.1:c.209C>T
NP_000678.1:p.Pro98Leu
NP_001155238.1:p.Pro70Leu
3/13144 0.00011 1 Likely pathogenic
View 20 33000447 33000447 T > C ITCH ITCH ITCH NM_001257138.1:c.7+2T>C
NM_001257137.1:c.337+2T>C
NM_031483.5:c.337+2T>C
2/11983 8.0e-05 2 donor_site Likely pathogenic
View 20 35526363 35526363 C > A SAMHD1 NM_015474.3:c.1609-1G>T
2/13810 7.0e-05 2 Likely pathogenic
View 20 35533834 35533834 A > G SAMHD1 NM_015474.3:c.1343T>C
NP_056289.2:p.Ile448Thr
3/14969 0.0001 1 Likely pathogenic
View 20 44592290 44592290 C > T ZNF335 NM_022095.3:c.1356-1G>A
1/11983 4.0e-05 2 acceptor_site Likely pathogenic
View 20 47612367 47612367 C > T ARFGEF2 NM_006420.2:c.3169C>T
NP_006411.2:p.Gln1057Ter
1/13144 4.0e-05 2 premature_stop Likely pathogenic
View 20 49510578 49510578 G > A ADNP ADNP NM_015339.2:c.673C>T
NM_181442.1:c.673C>T
NP_056154.1:p.Arg225Ter
NP_852107.1:p.Arg225Ter
2/13144 8.0e-05 1 Likely pathogenic
View 20 62044927 62044927 G > A KCNQ2 KCNQ2 KCNQ2 KCNQ2 NM_004518.4:c.1555C>T
NM_172108.3:c.1546C>T
NM_172107.2:c.1639C>T
NM_172106.1:c.1585C>T
NP_004509.2:p.Arg519Trp
NP_742106.1:p.Arg516Trp
NP_742105.1:p.Arg547Trp
NP_742104.1:p.Arg529Trp
1/13144 4.0e-05 1 Likely pathogenic
View 20 62076174 62076174 G > - KCNQ2 KCNQ2 KCNQ2 KCNQ2 KCNQ2 NM_004518.4:c.528del
NM_172108.3:c.528del
NM_172107.2:c.528del
NM_172109.1:c.528del
NM_172106.1:c.528del
NP_004509.2:p.Ile177SerfsTer32
NP_742106.1:p.Ile177SerfsTer32
NP_742105.1:p.Ile177SerfsTer32
NP_742107.1:p.Ile177SerfsTer32
NP_742104.1:p.Ile177SerfsTer32
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 21 47545690 47545690 G > A COL6A2 COL6A2 COL6A2 NM_058174.2:c.1970-9G>A
NM_001849.3:c.1970-9G>A
NM_058175.2:c.1970-9G>A
2/12682 8.0e-05 1 Likely pathogenic
View 22 18905934 18905934 A > G PRODH PRODH ENST00000357068.6:c.1322T>C
ENST00000334029.2:c.998T>C
ENSP00000349577.6:p.Leu441Pro
ENSP00000334726.2:p.Leu333Pro
174/13144 0.00666 1 Likely pathogenic
View 22 18907229 18907229 A > - PRODH PRODH ENST00000357068.6:c.1094del
ENST00000334029.2:c.770del
ENSP00000349577.6:p.Val365AlafsTer13
ENSP00000334726.2:p.Val257AlafsTer13
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 22 18908937 18908937 C > G PRODH PRODH ENST00000357068.6:c.930-1G>C
ENST00000334029.2:c.606-1G>C
2/11983 8.0e-05 2 acceptor_site Likely pathogenic
View 22 20783824 20783824 G > A SCARF2 SCARF2 NM_153334.4:c.1423C>T
NM_182895.2:c.1423C>T
NP_699165.2:p.Arg475Ter
NP_878315.1:p.Arg475Trp
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 22 21096950 21096950 G > A PI4KA NM_058004.3:c.3559C>T
NP_477352.3:p.Gln1187Ter
1/13144 4.0e-05 2 premature_stop Likely pathogenic
Displaying 250 through 300 of 530 variants