Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 17 59926587 59926588 TT > - BRIP1 NM_032043.2:c.409_410del
NP_114432.2:p.Lys137ValfsTer4
1/5119 0.0001 2 frameshift Likely pathogenic
View 17 61561231 61561232 - > CAGTTC ACE NM_000789.3:c.1617_1622dupGTTCCA
NP_000780.1:p.Gln539_Phe540dup
2/5400 0.00019 1 in_frame_indel Likely pathogenic
View 17 62019215 62019215 A > G SCN4A NM_000334.4:c.4427T>C
NP_000325.4:p.Met1476Thr
2/5119 0.0002 1 non_synonymous Likely pathogenic
View 17 73953546 73953546 C > T ACOX1 ACOX1 ACOX1 NM_007292.5:c.532G>A
NM_001185039.1:c.418G>A
NM_004035.6:c.532G>A
NP_009223.2:p.Gly178Ser
NP_001171968.1:p.Gly140Ser
NP_004026.2:p.Gly178Ser
1/6913 7.0e-05 1 Likely pathogenic
View 18 9122642 9122643 CT > - NDUFV2 NM_021074.4:c.434_435del
NP_066552.2:p.Ser145Ter
2/5119 0.0002 2 frameshift Likely pathogenic
View 19 7625651 7625651 G > A PNPLA6 PNPLA6 PNPLA6 PNPLA6 PNPLA6 NM_001166111.1:c.3846+1G>A
NM_001166112.1:c.3621+1G>A
NM_001166113.1:c.3702+1G>A
NM_001166114.1:c.3816+1G>A
NM_006702.4:c.3702+1G>A
2/5119 0.0002 2 donor_site Likely pathogenic
View 19 12921138 12921138 G > A RNASEH2A NM_006397.2:c.557G>A
NP_006388.2:p.Arg186Gln
2/6913 0.00022 1 Likely pathogenic
View 19 18897065 18897077 CACAAGCATCTCC > - COMP NM_000095.2:c.1279_1291del
NP_000086.2:p.Gly427ThrfsTer84
2/5119 0.0002 1 Likely pathogenic
View 19 41928258 41928258 A > G BCKDHA BCKDHA NM_001164783.1:c.836A>G
NM_000709.3:c.836A>G
NP_001158255.1:p.Tyr279Cys
NP_000700.1:p.Tyr279Cys
1/6913 7.0e-05 1 non_synonymous Likely pathogenic
View 19 50368616 50368617 - > C PNKP NM_007254.3:c.265dupG
NP_009185.2:p.Val89GlyfsTer41
2/5119 0.0002 2 frameshift Likely pathogenic
View 2 1915795 1915795 C > T MYT1L NM_015025.2:c.1700G>A
NP_055840.2:p.Arg567Gln
1/5119 0.0001 1 non_synonymous Likely pathogenic
View 2 32353512 32353512 C > - SPAST SPAST NM_014946.3:c.1209del
NM_199436.1:c.1113del
NP_055761.2:p.Phe404LeufsTer3
NP_955468.1:p.Phe372LeufsTer3
2/5119 0.0002 2 frameshift Likely pathogenic
View 2 88885358 88885358 C > T EIF2AK3 NM_004836.5:c.1650+1G>A
2/6913 0.00014 2 donor_site Likely pathogenic
View 2 138762746 138762746 C > - HNMT NM_006895.2:c.475del
NP_008826.1:p.His159IlefsTer4
2/5211 0.00019 2 frameshift Likely pathogenic
View 2 166915128 166915128 G > A SCN1A SCN1A SCN1A SCN1A NM_001165964.1:c.335C>T
NM_001202435.1:c.335C>T
NM_001165963.1:c.335C>T
NM_006920.4:c.335C>T
NP_001159436.1:p.Thr112Ile
NP_001189364.1:p.Thr112Ile
NP_001159435.1:p.Thr112Ile
NP_008851.3:p.Thr112Ile
1/5211 0.0001 1 Likely pathogenic
View 2 197081790 197081790 C > T HECW2 NM_020760.1:c.4436G>A
NP_065811.1:p.Arg1479Gln
1/5101 0.0001 1 non_synonymous Likely pathogenic
View 2 228176567 228176567 G > A COL4A3 LOC654841 NM_000091.4:c.4994G>A
NR_102371.1:n.48-6196C>T
NP_000082.2:p.Cys1665Tyr
2/6913 0.00014 1 Likely pathogenic
View 2 241810850 241810850 G > A AGXT NM_000030.2:c.508G>A
NP_000021.1:p.Gly170Arg
7/5119 0.00068 1 Likely pathogenic
View 20 32880181 32880181 T > C AHCY AHCY NM_001161766.1:c.344A>G
NM_000687.2:c.428A>G
NP_001155238.1:p.Tyr115Cys
NP_000678.1:p.Tyr143Cys
7/5119 0.00068 1 Likely pathogenic
View 20 44592290 44592290 C > T ZNF335 NM_022095.3:c.1356-1G>A
1/5119 0.0001 2 acceptor_site Likely pathogenic
View 20 47612367 47612367 C > T ARFGEF2 NM_006420.2:c.3169C>T
NP_006411.2:p.Gln1057Ter
1/5119 0.0001 2 premature_stop Likely pathogenic
View 20 62044927 62044927 G > A KCNQ2 KCNQ2 KCNQ2 KCNQ2 NM_172106.1:c.1585C>T
NM_172108.3:c.1546C>T
NM_172107.2:c.1639C>T
NM_004518.4:c.1555C>T
NP_742104.1:p.Arg529Trp
NP_742106.1:p.Arg516Trp
NP_742105.1:p.Arg547Trp
NP_004509.2:p.Arg519Trp
1/5119 0.0001 1 Likely pathogenic
View 21 47545690 47545690 G > A COL6A2 COL6A2 COL6A2 NM_001849.3:c.1970-9G>A
NM_058175.2:c.1970-9G>A
NM_058174.2:c.1970-9G>A
2/5771 0.00017 1 Likely pathogenic
View 22 18905934 18905934 A > G PRODH PRODH NM_016335.4:c.1322T>C
ENST00000334029.2:c.998T>C
NP_057419.4:p.Leu441Pro
ENSP00000334726.2:p.Leu333Pro
61/5119 0.00596 1 Likely pathogenic
View 22 24175859 24175859 A > G SMARCB1 SMARCB1 NM_003073.3:c.1087A>G
NM_001007468.1:c.1060A>G
NP_003064.2:p.Lys363Glu
NP_001007469.1:p.Lys354Glu
1/5119 0.0001 1 non_synonymous Likely pathogenic
View 22 31013475 31013475 G > T TCN2 TCN2 NM_000355.3:c.1099G>T
NM_001184726.1:c.1018G>T
NP_000346.2:p.Gly367Ter
NP_001171655.1:p.Gly340Ter
1/5119 0.0001 2 premature_stop Likely pathogenic
View 22 38129421 38129421 T > C TRIOBP NM_001039141.2:c.4062+2T>C
2/5119 0.0002 2 donor_site Likely pathogenic
View 22 40761034 40761034 T > C ADSL ADSL NM_000026.2:c.1342T>C
NM_001123378.1:c.1191+665T>C
NP_000017.1:p.Ser448Pro
5/5119 0.00049 1 Likely pathogenic
View 22 51123083 51123083 A > G SHANK3 ENST00000262795.3:c.1030+4A>G
1/5119 0.0001 2 five_prime_flank Likely pathogenic
View 3 15683564 15683564 G > A BTD NM_000060.2:c.459G>A
NM_000060.2:c.459G>A(p.=)
1/6913 7.0e-05 1 Likely pathogenic
View 3 24169140 24169140 C > T THRB THRB THRB THRB NM_001252634.1:c.994G>A
NM_001128176.2:c.994G>A
NM_000461.4:c.994G>A
NM_001128177.1:c.994G>A
NP_001239563.1:p.Gly332Arg
NP_001121648.1:p.Gly332Arg
NP_000452.2:p.Gly332Arg
NP_001121649.1:p.Gly332Arg
1/5119 0.0001 1 Likely pathogenic
View 3 49059888 49059889 - > A NDUFAF3 NDUFAF3 NDUFAF3 NDUFAF3 NM_199070.1:c.17dupA
NM_199073.1:c.17dupA
NM_199074.1:c.17dupA
NM_199069.1:c.188dupA
NP_951033.1:p.Tyr6Ter
NP_951047.1:p.Tyr6Ter
NP_951056.1:p.Tyr6Ter
NP_951032.1:p.Tyr63Ter
1/5119 0.0001 2 premature_stop Likely pathogenic
View 3 180706018 180706018 C > T DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 NM_001190233.1:c.-72-1G>A
NR_046073.1:n.175+1370G>A
NR_033722.1:n.176-1G>A
NR_033723.1:n.176-1G>A
NR_033721.1:n.176-134G>A
NM_145261.3:c.4-1G>A
3/6913 0.00022 2 acceptor_site Likely pathogenic
View 4 6279306 6279306 C > T WFS1 WFS1 NM_001145853.1:c.124C>T
NM_006005.3:c.124C>T
NP_001139325.1:p.Arg42Ter
NP_005996.2:p.Arg42Ter
2/5119 0.0002 1 ClinVar pathogenic variant Likely pathogenic
View 4 15480407 15480407 C > T CC2D2A CC2D2A CC2D2A NM_020785.2:c.100C>T
NM_001080522.2:c.100C>T
NM_001164720.1:c.100C>T
NP_065836.2:p.Arg34Ter
NP_001073991.2:p.Arg34Ter
NP_001158192.1:p.Arg34Ter
1/5119 0.0001 2 premature_stop Likely pathogenic
View 4 107157915 107157915 C > T TBCK TBCK TBCK TBCK NM_001163437.1:c.1103+1G>A
NM_033115.3:c.1031+1G>A
NM_001163436.1:c.1220+1G>A
NM_001163435.1:c.1220+1G>A
2/5119 0.0002 2 donor_site Likely pathogenic
View 4 107249367 107249371 GAAAA > - AIMP1 AIMP1 AIMP1 NM_001142415.1:c.362_366del
NM_001142416.1:c.434_438del
NM_004757.3:c.362_366del
NP_001135887.1:p.Lys121SerfsTer6
NP_001135888.1:p.Lys145SerfsTer6
NP_004748.2:p.Lys121SerfsTer6
2/5119 0.0002 2 frameshift Likely pathogenic
View 4 108852776 108852807 del > - CYP2U1 NM_183075.2:c.-24_8del
2/5119 0.0002 2 loss_of_initiation Likely pathogenic
View 4 113568112 113568112 G > T LARP7 LARP7 LARP7 LARP7 NM_001267039.1:c.573+1G>T
NR_049768.1:n.727+1G>T
NM_016648.3:c.552+1G>T
NM_015454.2:c.552+1G>T
2/5119 0.0002 2 donor_site Likely pathogenic
View 4 113570753 113570754 - > A LARP7 LARP7 LARP7 LARP7 NM_001267039.1:c.1234dupA
NR_049768.1:n.1388dupA
NM_016648.3:c.1213dupA
NM_015454.2:c.1213dupA
NP_001253968.1:p.Thr412AsnfsTer26
NP_057732.2:p.Thr405AsnfsTer26
NP_056269.1:p.Thr405AsnfsTer26
2/5119 0.0002 2 frameshift Likely pathogenic
View 4 123855729 123855731 CAA > - SPATA5 NM_145207.2:c.989_991del
NP_660208.2:p.Thr330del
3/5101 0.00029 1 Likely pathogenic
View 5 37180188 37180189 CA > - C5orf42 NM_023073.3:c.5667_5668del
NP_075561.3:p.Asp1890Ter
2/5119 0.0002 2 frameshift Likely pathogenic
View 5 90149131 90149131 T > G ADGRV1 ADGRV1 NR_003149.1:n.17248T>G
NM_032119.3:c.17235T>G
NP_115495.3:p.Tyr5745Ter
2/6913 0.00014 2 premature_stop Likely pathogenic
View 5 131705800 131705800 C > T SLC22A5 NM_003060.3:c.136C>T
NP_003051.1:p.Pro46Ser
18/7003 0.00129 1 Likely pathogenic
View 5 151239449 151239449 C > T GLRA1 GLRA1 NM_000171.3:c.373G>A
NM_001146040.1:c.373G>A
NP_000162.2:p.Asp125Asn
NP_001139512.1:p.Asp125Asn
2/5119 0.0002 2 non_synonymous Likely pathogenic
View 5 176684104 176684104 T > A NSD1 NSD1 NM_022455.4:c.4918T>A
NM_172349.2:c.4111T>A
NP_071900.2:p.Cys1640Ser
NP_758859.1:p.Cys1371Ser
1/5771 9.0e-05 2 non_synonymous Likely pathogenic
View 6 30691372 30691372 C > G TUBB NM_178014.2:c.533C>G
NP_821133.1:p.Thr178Ser
1/5119 0.0001 1 non_synonymous Likely pathogenic
View 6 42937486 42937486 G > - PEX6 NM_000287.3:c.1287del
NP_000278.3:p.Trp430GlyfsTer20
2/5119 0.0002 2 frameshift Likely pathogenic
View 6 74191826 74191826 C > T MTO1 MTO1 MTO1 NM_012123.3:c.1324C>T
NM_133645.2:c.1399C>T
NM_001123226.1:c.1444C>T
NP_036255.2:p.Arg442Ter
NP_598400.1:p.Arg467Ter
NP_001116698.1:p.Arg482Ter
2/5119 0.0002 2 premature_stop Likely pathogenic
View 6 74191932 74191932 G > A MTO1 MTO1 MTO1 NM_012123.3:c.1430G>A
NM_133645.2:c.1505G>A
NM_001123226.1:c.1550G>A
NP_036255.2:p.Arg477His
NP_598400.1:p.Arg502His
NP_001116698.1:p.Arg517His
2/5119 0.0002 1 Likely pathogenic
Displaying 50 through 100 of 137 variants