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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View X 10417749 10417749 T > C MID1 MID1 MID1 MID1 MID1 NM_033289.1:c.1549A>G
NM_001098624.2:c.1663A>G
NM_001193277.1:c.1663A>G
NM_033290.3:c.1663A>G
NM_000381.3:c.1663A>G
NP_150631.1:p.Ile517Val
NP_001092094.1:p.Ile555Val
NP_001180206.1:p.Ile555Val
NP_150632.1:p.Ile555Val
NP_000372.1:p.Ile555Val
4/14969 0.0002 1 Uncertain Significance
View X 12708353 12708353 G > C FRMPD4 NM_014728.3:c.721G>C
NP_055543.2:p.Gly241Arg
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View X 18643336 18643336 G > A CDKL5 CDKL5 NM_001037343.1:c.2465G>A
NM_003159.2:c.2465G>A
NP_001032420.1:p.Arg822His
NP_003150.1:p.Arg822His
4/13843 0.00022 3 non_synonymous Uncertain Significance
View X 19369513 19369513 G > A PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.406G>A
NM_001173456.1:c.406G>A
NM_001173455.1:c.427G>A
NM_001173454.1:c.520G>A
NP_000275.1:p.Ala136Thr
NP_001166927.1:p.Ala136Thr
NP_001166926.1:p.Ala143Thr
NP_001166925.1:p.Ala174Thr
8/14969 0.00037 3 curation Uncertain Significance
View X 19713860 19713860 C > T SH3KBP1 SH3KBP1 NM_031892.2:c.391-1G>A
NM_001024666.2:c.280-1G>A
2/11944 0.00013 2 acceptor_site Uncertain Significance
View X 21667134 21667134 A > C CNKSR2 CNKSR2 NM_001168647.1:c.2788A>C
NM_014927.3:c.2878A>C
NP_001162118.1:p.Ser930Arg
NP_055742.2:p.Ser960Arg
3/13144 0.00015 3 non_synonymous Uncertain Significance
View X 21871475 21871475 T > C MBTPS2 NM_015884.3:c.543-19T>C
3/13771 0.00011 3 three_prime_flank Uncertain Significance
View X 24089786 24089786 A > G EIF2S3 NM_001415.3:c.1124A>G
NP_001406.1:p.Tyr375Cys
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View X 25031889 25031889 A > C ARX NM_139058.2:c.223T>G
NP_620689.1:p.Phe75Val
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 25033764 25033764 T > G ARX NM_139058.2:c.91A>C
NP_620689.1:p.Ser31Arg
4/14969 0.00017 3 non_synonymous Uncertain Significance
View X 29935647 29935647 A > G IL1RAPL1 NM_014271.3:c.845A>G
NP_055086.1:p.Tyr282Cys
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 29973717 29973717 A > G IL1RAPL1 NM_014271.3:c.1871A>G
NP_055086.1:p.Tyr624Cys
1/14969 7.0e-05 3 Uncertain Significance
View X 32583970 32583970 T > G DMD DMD ENST00000378677.2:c.1829A>C
ENST00000357033.4:c.1841A>C
ENSP00000367948.2:p.Lys610Thr
ENSP00000354923.3:p.Lys614Thr
4/14969 0.0002 3 non_synonymous Uncertain Significance
View X 39933218 39933218 T > A BCOR BCOR BCOR BCOR NM_017745.5:c.1381A>T
NM_001123384.1:c.1381A>T
NM_001123383.1:c.1381A>T
NM_001123385.1:c.1381A>T
NP_060215.4:p.Met461Leu
NP_001116856.1:p.Met461Leu
NP_001116855.1:p.Met461Leu
NP_001116857.1:p.Met461Leu
1/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 40996261 40996261 C > G USP9X USP9X NM_001039590.2:c.640C>G
NM_001039591.2:c.640C>G
NP_001034679.2:p.Pro214Ala
NP_001034680.2:p.Pro214Ala
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View X 41055619 41055619 C > T USP9X USP9X NM_001039590.2:c.4086+7C>T
NM_001039591.2:c.4086+7C>T
4/11985 0.00025 3 five_prime_intronic Uncertain Significance
View X 41077775 41077775 A > G USP9X USP9X NM_001039590.2:c.6360A>G
NM_001039591.2:c.6360A>G
NP_001034679.2:p.Ile2120Met
NP_001034680.2:p.Ile2120Met
4/13144 0.00027 3 Uncertain Significance
View X 41084042 41084042 C > T USP9X USP9X NM_001039590.2:c.6799C>T
NM_001039591.2:c.6799C>T
NP_001034679.2:p.Pro2267Ser
NP_001034680.2:p.Pro2267Ser
4/13144 0.00023 3 non_synonymous Uncertain Significance
View X 41390309 41390309 C > T CASK CASK CASK NM_003688.3:c.2456G>A
NM_001126054.2:c.2387G>A
NM_001126055.2:c.2384G>A
NP_003679.2:p.Arg819Gln
NP_001119526.1:p.Arg796Gln
NP_001119527.1:p.Arg795Gln
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 41419052 41419052 T > A CASK CASK CASK NM_003688.3:c.1717A>T
NM_001126054.2:c.1717A>T
NM_001126055.2:c.1699A>T
NP_003679.2:p.Thr573Ser
NP_001119526.1:p.Thr573Ser
NP_001119527.1:p.Thr567Ser
1/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 43809062 43809062 C > T NDP NM_000266.3:c.385G>A
NP_000257.1:p.Glu129Lys
3/14969 0.00013 3 curation Uncertain Significance
View X 44922709 44922709 C > A KDM6A NM_021140.2:c.1570C>A
NP_066963.2:p.Pro524Thr
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View X 47030503 47030503 C > T RBM10 RBM10 RBM10 RBM10 RBM10 NM_152856.2:c.201+1606C>T
NM_001204466.1:c.201+1606C>T
NM_001204467.1:c.278C>T
NM_001204468.1:c.473C>T
NM_005676.4:c.278C>T
NP_001191396.1:p.Pro93Leu
NP_001191397.1:p.Pro158Leu
NP_005667.2:p.Pro93Leu
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View X 47041026 47041026 G > T RBM10 RBM10 RBM10 RBM10 RBM10 NM_152856.2:c.1322G>T
NM_001204466.1:c.1325G>T
NM_001204467.1:c.1553G>T
NM_001204468.1:c.1751G>T
NM_005676.4:c.1556G>T
NP_690595.1:p.Gly441Val
NP_001191395.1:p.Gly442Val
NP_001191396.1:p.Gly518Val
NP_001191397.1:p.Gly584Val
NP_005667.2:p.Gly519Val
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View X 47062920 47062922 TCT > - UBA1 UBA1 NM_003334.3:c.1420-16_1420-14del
NM_153280.2:c.1420-16_1420-14del
4/13771 0.00022 3 three_prime_flank Uncertain Significance
View X 47434159 47434159 C > A SYN1 SYN1 NM_133499.2:c.1321G>T
NM_006950.3:c.1321G>T
NP_598006.1:p.Ala441Ser
NP_008881.2:p.Ala441Ser
3/13144 0.00019 3 non_synonymous Uncertain Significance
View X 47434649 47434649 T > C SYN1 SYN1 NM_133499.2:c.1183A>G
NM_006950.3:c.1183A>G
NP_598006.1:p.Ile395Val
NP_008881.2:p.Ile395Val
6/13144 0.0003 3 non_synonymous Uncertain Significance
View X 48546743 48546743 G > A WAS NM_000377.2:c.832G>A
NP_000368.1:p.Glu278Lys
1/14969 7.0e-05 3 Uncertain Significance
View X 49104908 49104908 C > T CCDC22 NM_014008.3:c.1253C>T
NP_054727.1:p.Ala418Val
3/13144 0.00015 3 non_synonymous Uncertain Significance
View X 49855377 49855377 T > G CLCN5 CLCN5 CLCN5 CLCN5 NR_073607.1:n.2275T>G
NM_001127898.2:c.2194T>G
NM_001127899.2:c.2194T>G
NM_000084.3:c.1984T>G
NP_001121370.1:p.Phe732Val
NP_001121371.1:p.Phe732Val
NP_000075.1:p.Phe662Val
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 50345632 50345632 C > T SHROOM4 SHROOM4 NM_020717.3:c.3942+1G>A
NR_027121.1:n.3968+1G>A
2/13810 0.00011 3 curation Uncertain Significance
View X 53223826 53223826 G > A KDM5C KDM5C NM_001146702.1:c.3332C>T
NM_004187.3:c.3533C>T
NP_001140174.1:p.Ser1111Leu
NP_004178.2:p.Ser1178Leu
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 53240674 53240674 C > T KDM5C KDM5C NM_001146702.1:c.1200+5G>A
NM_004187.3:c.1401+5G>A
2/13810 7.0e-05 3 five_prime_flank Uncertain Significance
View X 53243968 53243968 C > A KDM5C KDM5C NM_001146702.1:c.824G>T
NM_004187.3:c.1025G>T
NP_001140174.1:p.Cys275Phe
NP_004178.2:p.Cys342Phe
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 53265641 53265641 T > C IQSEC2 IQSEC2 NM_001111125.2:c.3314A>G
NM_015075.1:c.2699A>G
NP_001104595.1:p.Asn1105Ser
NP_055890.1:p.Asn900Ser
2/13144 0.00015 3 non_synonymous Uncertain Significance
View X 53280364 53280365 - > G IQSEC2 IQSEC2 NM_001111125.2:c.1402-9dupC
NM_015075.1:c.787-9dupC
3/11983 0.00017 3 polypyrimidine_tract Uncertain Significance
View X 53618049 53618049 T > A HUWE1 NM_031407.5:c.4006A>T
NP_113584.3:p.Met1336Leu
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 53631663 53631663 C > A HUWE1 NM_031407.5:c.2629G>T
NP_113584.3:p.Ala877Ser
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View X 53641530 53641530 A > T HUWE1 NM_031407.5:c.2226T>A
NP_113584.3:p.Asn742Lys
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View X 54069181 54069181 G > T PHF8 PHF8 PHF8 PHF8 NM_001184898.1:c.-20C>A
NM_001184897.1:c.-20C>A
NM_015107.2:c.-20C>A
NM_001184896.1:c.89C>A
NP_001171825.1:p.Thr30Lys
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View X 54496640 54496640 C > T FGD1 NM_004463.2:c.910G>A
NP_004454.2:p.Gly304Arg
7/14969 0.00037 3 non_synonymous Uncertain Significance
View X 54521747 54521747 G > A FGD1 NM_004463.2:c.119C>T
NP_004454.2:p.Pro40Leu
5/14969 0.0003 3 non_synonymous Uncertain Significance
View X 62875547 62875547 A > G ARHGEF9 ARHGEF9 ARHGEF9 NM_001173480.1:c.821T>C
NM_001173479.1:c.968T>C
NM_015185.2:c.1127T>C
NP_001166951.1:p.Ile274Thr
NP_001166950.1:p.Ile323Thr
NP_056000.1:p.Ile376Thr
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View X 64738289 64738289 C > G LAS1L LAS1L LAS1L NM_031206.4:c.1505G>C
NM_001170649.1:c.1454G>C
NM_001170650.1:c.1328G>C
NP_112483.1:p.Arg502Pro
NP_001164120.1:p.Arg485Pro
NP_001164121.1:p.Arg443Pro
4/13144 0.00023 3 non_synonymous Uncertain Significance
View X 67293014 67293014 G > A OPHN1 NM_002547.2:c.1814C>T
NP_002538.1:p.Ser605Phe
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View X 67331712 67331712 T > C OPHN1 NM_002547.2:c.1510A>G
NP_002538.1:p.Ile504Val
6/14969 0.00033 3 non_synonymous Uncertain Significance
View X 67333024 67333024 G > A OPHN1 NM_002547.2:c.1419C>T
NP_002538.1:p.Ala473=
3/14969 0.00013 3 five_prime_exonic Uncertain Significance
View X 67333081 67333081 C > G OPHN1 NM_002547.2:c.1362G>C
NP_002538.1:p.Arg454Ser
2/14969 0.0001 3 non_synonymous Uncertain Significance
View X 69503221 69503221 C > A RAB41 NM_001032726.2:c.338C>A
NP_001027898.2:p.Thr113Lys
1/13105 4.0e-05 3 non_synonymous Uncertain Significance
View X 69607098 69607098 G > A KIF4A ENST00000374403.3:c.2183G>A
ENSP00000363524.3:p.Arg728Gln
3/13144 0.00015 3 non_synonymous Uncertain Significance
Displaying 2,000 through 2,050 of 2,237 variants