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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 21 47545690 47545690 G > A COL6A2 COL6A2 COL6A2 NM_058175.2:c.1970-9G>A
NM_001849.3:c.1970-9G>A
NM_058174.2:c.1970-9G>A
2/6865 0.00015 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
74/6213 0.00596 1 Likely pathogenic
View 22 18908937 18908937 C > G PRODH PRODH ENST00000357068.6:c.930-1G>C
ENST00000334029.2:c.606-1G>C
2/6213 0.00016 2 acceptor_site Likely pathogenic
View 22 20783824 20783824 G > A SCARF2 SCARF2 NM_182895.2:c.1423C>T
NM_153334.4:c.1423C>T
NP_878315.1:p.Arg475Trp
NP_699165.2:p.Arg475Ter
2/6213 0.00016 2 premature_stop Likely pathogenic
View 22 21096950 21096950 G > A PI4KA NM_058004.3:c.3559C>T
NP_477352.3:p.Gln1187Ter
1/6213 8.0e-05 2 premature_stop 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
1/6213 8.0e-05 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
1/6213 8.0e-05 2 premature_stop Likely pathogenic
View 22 38129421 38129421 T > C TRIOBP NM_001039141.2:c.4062+2T>C
2/6213 0.00016 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
5/6213 0.0004 1 Likely pathogenic
View 22 51123083 51123083 A > G SHANK3 ENST00000262795.3:c.1030+4A>G
1/6213 8.0e-05 2 five_prime_flank Likely pathogenic
View 3 9781036 9781036 G > A BRPF1 BRPF1 NM_004634.2:c.953G>A
NM_001003694.1:c.953G>A
NP_004625.2:p.Arg318His
NP_001003694.1:p.Arg318His
1/6174 8.0e-05 3 non_synonymous Likely pathogenic
View 3 15683564 15683564 G > A BTD NM_000060.2:c.459G>A
NP_000051.1:p.Glu153=
1/8004 6.0e-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
1/6213 8.0e-05 1 Likely pathogenic
View 3 25770719 25770719 G > A NGLY1 NGLY1 NGLY1 NGLY1 NM_001145295.1:c.1516C>T
NM_018297.3:c.1516C>T
NM_001145294.1:c.1390C>T
NM_001145293.1:c.1462C>T
NP_001138767.1:p.Arg506Ter
NP_060767.2:p.Arg506Ter
NP_001138766.1:p.Arg464Ter
NP_001138765.1:p.Arg488Ter
3/6213 0.00024 2 premature_stop 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
2/6213 0.00016 2 premature_stop Likely pathogenic
View 3 180706018 180706018 C > T DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 DNAJC19 NR_033721.1:n.176-134G>A
NR_033722.1:n.176-1G>A
NM_145261.3:c.4-1G>A
NR_033723.1:n.176-1G>A
NR_046073.1:n.175+1370G>A
NM_001190233.1:c.-72-1G>A
3/8004 0.00019 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
2/6213 0.00016 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
1/6213 8.0e-05 2 premature_stop Likely pathogenic
View 4 103586010 103586010 C > A MANBA NM_005908.3:c.1318-1G>T
3/6213 0.00024 2 acceptor_site Likely pathogenic
View 4 107157915 107157915 C > T TBCK TBCK TBCK TBCK ENST00000394706.3:c.1103+1G>A
ENST00000361687.4:c.1031+1G>A
ENST00000394708.2:c.1220+1G>A
ENST00000432496.2:c.1220+1G>A
2/6213 0.00016 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
2/6213 0.00016 2 frameshift Likely pathogenic
View 4 108852776 108852807 del > - CYP2U1 NM_183075.2:c.-24_8del
2/6213 0.00016 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
2/6213 0.00016 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
2/6213 0.00016 2 frameshift Likely pathogenic
View 4 123855729 123855731 CAA > - SPATA5 NM_145207.2:c.989_991del
NP_660208.2:p.Thr330del
3/6174 0.00024 1 Likely pathogenic
View 4 146575151 146575152 - > A MMAA NM_172250.2:c.829dupA
NP_758454.1:p.Arg277LysfsTer14
3/8004 0.00019 2 frameshift Likely pathogenic
View 5 37180188 37180189 CA > - C5orf42 NM_023073.3:c.5667_5668del
NP_075561.3:p.Asp1890Ter
2/6213 0.00016 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
2/8004 0.00012 2 premature_stop Likely pathogenic
View 5 131705800 131705800 C > T SLC22A5 NM_003060.3:c.136C>T
NP_003051.1:p.Pro46Ser
20/8223 0.00122 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
2/6213 0.00016 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
1/6865 7.0e-05 2 non_synonymous Likely pathogenic
View 6 30691372 30691372 C > G TUBB NM_178014.2:c.533C>G
NP_821133.1:p.Thr178Ser
1/6213 8.0e-05 1 non_synonymous Likely pathogenic
View 6 42937486 42937486 G > - PEX6 NM_000287.3:c.1287del
NP_000278.3:p.Trp430GlyfsTer20
2/6213 0.00016 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
2/6213 0.00016 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
2/6213 0.00016 1 Likely pathogenic
View 6 86246509 86246509 C > G SNX14 SNX14 NM_020468.3:c.1449+1G>C
NM_153816.3:c.1608+1G>C
4/6213 0.00032 2 donor_site Likely pathogenic
View 6 99323430 99323447 GCTGCTCTGCAGAGTTGG > - FBXL4 FBXL4 FBXL4 NM_001278716.1:c.1546_1563del
NM_012160.4:c.1546_1563del
NR_103836.1:n.1591_1608del
NP_001265645.1:p.Pro516_Ser521del
NP_036292.2:p.Pro516_Ser521del
2/6213 0.00016 1 Likely pathogenic
View 6 99323549 99323549 G > A FBXL4 FBXL4 FBXL4 NM_001278716.1:c.1444C>T
NM_012160.4:c.1444C>T
NR_103836.1:n.1489C>T
NP_001265645.1:p.Arg482Trp
NP_036292.2:p.Arg482Trp
3/6213 0.00024 1 Likely pathogenic
View 6 99323552 99323553 - > T FBXL4 FBXL4 FBXL4 NM_001278716.1:c.1440dupA
NM_012160.4:c.1440dupA
NR_103836.1:n.1485dupA
NP_001265645.1:p.Leu481ThrfsTer10
NP_036292.2:p.Leu481ThrfsTer10
2/6213 0.00016 2 frameshift Likely pathogenic
View 6 105564658 105564661 AAGA > - BVES BVES BVES NM_001199563.1:c.731_734del
NM_147147.3:c.731_734del
NM_007073.4:c.731_734del
NP_001186492.1:p.Phe244CysfsTer20
NP_671488.1:p.Phe244CysfsTer20
NP_009004.2:p.Phe244CysfsTer20
1/6213 8.0e-05 2 frameshift Likely pathogenic
View 6 121768709 121768709 G > A GJA1 NM_000165.3:c.716G>A
NP_000156.1:p.Arg239Gln
1/6213 8.0e-05 1 Likely pathogenic
View 6 131923522 131923522 C > T MED23 MED23 MED23 MED23 NM_001270522.1:c.1932-1G>A
NM_015979.3:c.1950-1G>A
NM_004830.3:c.1932-1G>A
NM_001270521.1:c.1932-1G>A
2/6213 0.00016 2 acceptor_site Likely pathogenic
View 6 132211480 132211480 G > A ENPP1 NM_006208.2:c.2608-1G>A
1/8004 6.0e-05 2 acceptor_site Likely pathogenic
View 6 152560836 152560836 G > C SYNE1 SYNE1 NM_182961.3:c.19899C>G
NM_033071.3:c.19686C>G
NP_892006.3:p.Tyr6633Ter
NP_149062.1:p.Tyr6562Ter
2/6213 0.00016 2 premature_stop Likely pathogenic
View 6 158541464 158541464 G > A SERAC1 SERAC1 NM_032861.3:c.1159C>T
NR_073096.1:n.1187C>T
NP_116250.3:p.Arg387Ter
1/6213 8.0e-05 2 premature_stop Likely pathogenic
View 7 65546812 65546812 G > A ASL ASL ASL ASL NM_001024946.1:c.35G>A
NM_000048.3:c.35G>A
NM_001024944.1:c.35G>A
NM_001024943.1:c.35G>A
NP_001020117.1:p.Arg12Gln
NP_000039.2:p.Arg12Gln
NP_001020115.1:p.Arg12Gln
NP_001020114.1:p.Arg12Gln
31/8004 0.00194 2 Likely pathogenic
View 7 97483937 97483938 - > A ASNS ASNS ASNS ASNS ASNS ASNS NM_133436.3:c.1192dupT
NM_001673.4:c.1192dupT
NM_183356.3:c.1192dupT
NM_001178076.1:c.943dupT
NM_001178075.1:c.1129dupT
NM_001178077.1:c.943dupT
NP_597680.2:p.Tyr398LeufsTer4
NP_001664.3:p.Tyr398LeufsTer4
NP_899199.2:p.Tyr398LeufsTer4
NP_001171547.1:p.Tyr315LeufsTer4
NP_001171546.1:p.Tyr377LeufsTer4
NP_001171548.1:p.Tyr315LeufsTer4
3/6213 0.00024 2 frameshift Likely pathogenic
View 7 97488213 97488213 A > G ASNS ASNS ASNS ASNS ASNS ASNS NM_133436.3:c.728T>C
NM_001673.4:c.728T>C
NM_183356.3:c.728T>C
NM_001178076.1:c.479T>C
NM_001178075.1:c.665T>C
NM_001178077.1:c.479T>C
NP_597680.2:p.Val243Ala
NP_001664.3:p.Val243Ala
NP_899199.2:p.Val243Ala
NP_001171547.1:p.Val160Ala
NP_001171546.1:p.Val222Ala
NP_001171548.1:p.Val160Ala
3/6213 0.00024 1 non_synonymous Likely pathogenic
View 7 117149143 117149143 C > T CFTR NM_000492.3:c.220C>T
NP_000483.3:p.Arg74Trp
38/8223 0.00231 1 Likely pathogenic
View 7 117232470 117232470 C > T CFTR NM_000492.3:c.2249C>T
NP_000483.3:p.Pro750Leu
13/8223 0.00079 1 Likely pathogenic
Displaying 100 through 150 of 180 variants