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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 71791979 71791979 A > - HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 NM_001166418.1:c.112-17del
NM_001166419.1:c.112-17del
NM_018486.2:c.112-17del
NM_001166448.1:c.112-17del
NM_001166420.1:c.112-17del
NM_001166422.1:c.112-17del
NR_051952.1:n.454-17del
8/11946 0.00033 5 curation Benign
View X 71792592 71792592 G > C HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 NM_001166418.1:c.20C>G
NM_001166419.1:c.20C>G
NM_018486.2:c.20C>G
NM_001166448.1:c.20C>G
NM_001166420.1:c.20C>G
NM_001166422.1:c.20C>G
NR_051952.1:n.362C>G
NP_001159890.1:p.Pro7Arg
NP_001159891.1:p.Pro7Arg
NP_060956.1:p.Pro7Arg
NP_001159920.1:p.Pro7Arg
NP_001159892.1:p.Pro7Arg
NP_001159894.1:p.Pro7Arg
6/13144 0.00027 5 curation Benign
View X 73960146 73960146 G > A NEXMIF NM_001008537.2:c.4246C>T
NP_001008537.1:p.Pro1416Ser
79/13144 0.00388 5 curation Benign
View X 76856021 76856021 T > C ATRX ATRX NM_138270.2:c.5465A>G
NM_000489.3:c.5579A>G
NP_612114.1:p.Asn1822Ser
NP_000480.2:p.Asn1860Ser
172/14969 0.00745 5 curation Benign
View X 76938153 76938153 G > C ATRX ATRX NM_138270.2:c.2481C>G
NM_000489.3:c.2595C>G
NP_612114.1:p.His827Gln
NP_000480.2:p.His865Gln
184/14969 0.00808 5 curation Benign
View X 76939115 76939115 G > C ATRX ATRX NM_138270.2:c.1519C>G
NM_000489.3:c.1633C>G
NP_612114.1:p.Gln507Glu
NP_000480.2:p.Gln545Glu
34/14969 0.00154 5 curation Benign
View X 76939325 76939325 G > C ATRX ATRX NM_138270.2:c.1309C>G
NM_000489.3:c.1423C>G
NP_612114.1:p.His437Asp
NP_000480.2:p.His475Asp
9/14969 0.0003 4 curation Benign
View X 77224487 77224487 C > T ATP7A PGAM4 NM_000052.5:c.-21-2631C>T
NM_001029891.2:c.649G>A
NP_001025062.1:p.Val217Ile
4/14930 0.0002 3 non_synonymous Benign
View X 77264659 77264659 A > G ATP7A NM_000052.5:c.1768A>G
NP_000043.3:p.Arg590Gly
7/15408 0.00032 5 curation Benign
View X 77294411 77294411 A > G ATP7A NM_000052.5:c.3589A>G
NP_000043.3:p.Asn1197Asp
13/15408 0.00049 5 curation Benign
View X 77301954 77301954 A > G ATP7A NM_000052.5:c.4390A>G
NP_000043.3:p.Ile1464Val
15/15408 0.00075 5 curation Benign
View X 85156199 85156201 AAG > - CHM NM_000390.2:c.1245-8_1245-6del
18/11987 0.00104 5 polypyrimidine_tract Benign
View X 100630121 100630121 G > A BTK NM_000061.2:c.141+11C>T
158/13788 0.00769 5 curation Benign
View X 100662901 100662901 G > A GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.-10C>T
NM_001199973.1:c.409-4023G>A
NM_001199974.1:c.286-4023G>A
1511/13937 0.07541 5 Common ExAC MAF original cat: TYPE_4 - intronic Benign
View X 100663660 100663660 C > G HNRNPH2 RPL36A-HNRNPH2 RPL36A-HNRNPH2 HNRNPH2 NM_001032393.2:c.-54+365C>G
NM_001199973.1:c.409-3264C>G
NM_001199974.1:c.286-3264C>G
NM_019597.4:c.-54+353C>G
158/11944 0.00929 5 curation Benign
View X 102192422 102192422 A > G RAB40AL NM_001031834.1:c.176A>G
NP_001027004.1:p.Asp59Gly
67/13144 0.00323 5 curation Benign
View X 102192423 102192423 C > A RAB40AL NM_001031834.1:c.177C>A
NP_001027004.1:p.Asp59Glu
66/13144 0.0032 5 curation Benign
View X 107433669 107433669 C > T COL4A6 COL4A6 NM_001847.2:c.1382G>A
NM_033641.2:c.1379G>A
NP_001838.2:p.Arg461Gln
NP_378667.1:p.Arg460Gln
178/13144 0.00905 5 curation Benign
View X 107816826 107816826 T > C COL4A5 COL4A5 NM_000495.4:c.488T>C
NM_033380.2:c.488T>C
NP_000486.1:p.Met163Thr
NP_203699.1:p.Met163Thr
2/14969 0.0001 5 non_synonymous Benign
View X 107834411 107834411 C > A COL4A5 COL4A5 NM_000495.4:c.1289C>A
NM_033380.2:c.1289C>A
NP_000486.1:p.Ala430Asp
NP_203699.1:p.Ala430Asp
96/14969 0.00421 5 curation Benign
View X 108924380 108924381 - > A ACSL4 ACSL4 NM_022977.2:c.640-16dupT
NM_004458.2:c.517-16dupT
182/13779 0.00871 5 curation Benign
View X 110980029 110980029 G > C ALG13 ALG13 ALG13 ALG13 ALG13 NM_001257231.1:c.2383G>C
NM_001257234.1:c.2305G>C
NM_001257237.1:c.2305G>C
NM_001099922.2:c.2617G>C
NM_001257230.1:c.2305G>C
NP_001244160.1:p.Ala795Pro
NP_001244163.1:p.Ala769Pro
NP_001244166.1:p.Ala769Pro
NP_001093392.1:p.Ala873Pro
NP_001244159.1:p.Ala769Pro
28/13144 0.00148 5 curation Benign
View X 110988000 110988002 CCT > - ALG13 ALG13 ALG13 ALG13 ALG13 NM_001257231.1:c.2599_2601del
NM_001257234.1:c.2383+7926_2383+7928del
NM_001257237.1:c.2383+7926_2383+7928del
NM_001099922.2:c.2833_2835del
NM_001257230.1:c.2383+7926_2383+7928del
NP_001244160.1:p.Pro867del
NP_001093392.1:p.Pro945del
67/13144 0.00289 5 curation Benign
View X 119005968 119005968 G > C NDUFA1 NM_004541.3:c.94G>C
NP_004532.1:p.Gly32Arg
162/14969 0.00695 5 curation Benign
View X 119573071 119573071 C > T LAMP2 LAMP2 LAMP2 NM_001122606.1:c.1093+2514G>A
NM_002294.2:c.1093+2514G>A
NM_013995.2:c.1171G>A
NP_054701.1:p.Val391Ile
126/13144 0.00631 5 curation Benign
View X 119581776 119581776 C > T LAMP2 LAMP2 LAMP2 NM_001122606.1:c.661G>A
NM_002294.2:c.661G>A
NM_013995.2:c.661G>A
NP_001116078.1:p.Gly221Arg
NP_002285.1:p.Gly221Arg
NP_054701.1:p.Gly221Arg
39/13144 0.00198 5 curation Benign
View X 122551245 122551245 T > A GRIA3 GRIA3 ENST00000371256.5:c.1501-8T>A
ENST00000264357.5:c.1501-8T>A
173/11995 0.0095 5 curation Benign
View X 123020281 123020281 C > G XIAP XIAP XIAP NM_001167.3:c.769C>G
NR_037916.1:n.128-2188C>G
NM_001204401.1:c.769C>G
NP_001158.2:p.Pro257Ala
NP_001191330.1:p.Pro257Ala
22/14969 0.00117 5 Benign
View X 123184951 123184952 - > T STAG2 STAG2 STAG2 STAG2 NM_001042749.1:c.1018-3dupT
NM_006603.4:c.1018-3dupT
NM_001042751.1:c.1018-3dupT
NM_001042750.1:c.1018-3dupT
242/11997 0.01034 5 curation Benign
View X 123480540 123480540 C > T SH2D1A SH2D1A NM_001114937.2:c.48C>T
NM_002351.4:c.48C>T
NP_001108409.1:p.Gly16=
NP_002342.1:p.Gly16=
52/14969 0.00237 5 curation Benign
View X 130409217 130409217 C > G IGSF1 IGSF1 ENST00000370910.1:c.3201G>C
ENST00000370903.3:c.3243G>C
ENSP00000359947.1:p.Met1067Ile
ENSP00000359940.3:p.Met1081Ile
101/13144 0.00514 5 curation Benign
View X 130409697 130409697 A > G IGSF1 IGSF1 ENST00000370910.1:c.2912T>C
ENST00000370903.3:c.2954T>C
ENSP00000359947.1:p.Val971Ala
ENSP00000359940.3:p.Val985Ala
121/13144 0.00609 5 curation Benign
View X 132670325 132670328 TCAA > - GPC3 GPC3 GPC3 GPC3 NM_004484.3:c.1574-7_1574-4del
NM_001164618.1:c.1526-7_1526-4del
NM_001164619.1:c.1412-7_1412-4del
NM_001164617.1:c.1643-7_1643-4del
24/13812 0.00112 3 polypyrimidine_tract Benign
View X 135067686 135067686 G > T SLC9A6 SLC9A6 SLC9A6 NM_001177651.1:c.-57+50G>T
NM_001042537.1:c.25G>T
NM_006359.2:c.25G>T
NP_001036002.1:p.Ala9Ser
NP_006350.1:p.Ala9Ser
86/14969 0.00351 5 curation Benign
View X 135112332 135112332 G > A SLC9A6 SLC9A6 SLC9A6 NM_001177651.1:c.1491+11G>A
NM_001042537.1:c.1647+11G>A
NM_006359.2:c.1551+11G>A
6/13771 0.00029 5 five_prime_intronic Benign
View X 135126891 135126891 A > T SLC9A6 SLC9A6 SLC9A6 NM_001177651.1:c.*8A>T
NM_001042537.1:c.*8A>T
NM_006359.2:c.*8A>T
47/13813 0.00228 5 Benign
View X 135741330 135741330 G > A CD40LG NM_000074.2:c.542G>A
NP_000065.1:p.Arg181Gln
17/14969 0.0008 5 Benign
View X 135954484 135954486 ATA > - RBMX NM_001164803.1:c.559_561del
NP_001158275.1:p.Tyr187del
111/13105 0.0053 5 curation Benign
View X 136648899 136648899 G > T ZIC3 NM_003413.3:c.49G>T
NP_003404.1:p.Gly17Cys
52/14969 0.00227 5 curation Benign
View X 139586919 139586919 G > T SOX3 NM_005634.2:c.307C>A
NP_005625.2:p.Pro103Thr
120/14969 0.00541 5 curation Benign
View X 139587099 139587099 C > T SOX3 NM_005634.2:c.127G>A
NP_005625.2:p.Ala43Thr
164/14969 0.00745 5 curation Benign
View X 139587212 139587212 C > T SOX3 NM_005634.2:c.14G>A
NP_005625.2:p.Arg5Gln
43/14969 0.00174 5 curation Benign
View X 147919205 147919205 C > A AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.1075-5285C>A
NM_001169124.1:c.1087-5285C>A
NM_001169123.1:c.1109C>A
NM_001170628.1:c.97-5285C>A
NM_001169125.1:c.1075-5285C>A
NM_002025.3:c.1121C>A
NP_001162594.1:p.Ser370Tyr
NP_002016.2:p.Ser374Tyr
5/14969 0.0002 5 curation Benign
View X 148039954 148039954 C > G AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.2557C>G
NM_001169124.1:c.2551C>G
NM_001169123.1:c.2626C>G
NM_001170628.1:c.1579C>G
NM_001169125.1:c.2539C>G
NM_002025.3:c.2656C>G
NP_001162593.1:p.Pro853Ala
NP_001162595.1:p.Pro851Ala
NP_001162594.1:p.Pro876Ala
NP_001164099.1:p.Pro527Ala
NP_001162596.1:p.Pro847Ala
NP_002016.2:p.Pro886Ala
43/14969 0.00174 5 curation Benign
View X 150572228 150572228 T > G VMA21 NM_001017980.3:c.163+16T>G
93/11955 0.00514 3 five_prime_intronic Benign
View X 152483225 152483225 T > - MAGEA1 NM_004988.4:c.-138-2del
119/11965 0.00698 5 acceptor_site Benign
View X 152807810 152807810 A > C ATP2B3 ATP2B3 NM_001001344.2:c.694A>C
NM_021949.3:c.694A>C
NP_001001344.1:p.Ile232Leu
NP_068768.2:p.Ile232Leu
73/13144 0.00365 5 curation Benign
View X 152845611 152845611 C > T ATP2B3 ATP2B3 NM_001001344.2:c.3518C>T
NM_021949.3:c.*150C>T
NP_001001344.1:p.Ala1173Val
67/13144 0.0035 5 curation Benign
View X 152860096 152860096 C > T CCNQ ENST00000406277.2:c.332G>A
ENSP00000384396.2:p.Arg111His
79/13144 0.00396 5 curation Benign
View X 152954025 152954025 A > G SLC6A8 SLC6A8 NM_005629.3:c.-5A>G
NM_001142805.1:c.-5A>G
10770/14849 0.72416 5 curation Benign
Displaying 1,150 through 1,200 of 1,342 variants