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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 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
2/6955 0.00022 3 non_synonymous Uncertain Significance
View X 67293014 67293014 G > A OPHN1 NM_002547.2:c.1814C>T
NP_002538.1:p.Ser605Phe
1/8745 6.0e-05 3 non_synonymous Uncertain Significance
View X 69607098 69607098 G > A KIF4A ENST00000374403.3:c.2183G>A
ENSP00000363524.3:p.Arg728Gln
3/6955 0.00029 3 non_synonymous Uncertain Significance
View X 70344113 70344113 A > G MED12 NM_005120.2:c.1849A>G
NP_005111.2:p.Thr617Ala
5/8745 0.00034 3 non_synonymous Uncertain Significance
View X 70389753 70389753 C > T NLGN3 NLGN3 NLGN3 NM_018977.3:c.2293C>T
NM_001166660.1:c.2233C>T
NM_181303.1:c.2353C>T
NP_061850.2:p.Arg765Cys
NP_001160132.1:p.Arg745Cys
NP_851820.1:p.Arg785Cys
3/6955 0.00029 3 non_synonymous Uncertain Significance
View X 71787760 71787760 C > G HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 NM_001166418.1:c.164+4147G>C
NM_001166419.1:c.416G>C
NM_018486.2:c.416G>C
NM_001166448.1:c.164+4147G>C
NM_001166420.1:c.416G>C
NM_001166422.1:c.416G>C
NR_051952.1:n.637+844G>C
NP_001159891.1:p.Gly139Ala
NP_060956.1:p.Gly139Ala
NP_001159892.1:p.Gly139Ala
NP_001159894.1:p.Gly139Ala
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View X 76849151 76849151 T > C ATRX ATRX NM_138270.2:c.5996+15A>G
NM_000489.3:c.6110+15A>G
2/8706 0.00011 3 five_prime_intronic Uncertain Significance
View X 76937461 76937461 A > C ATRX ATRX NM_138270.2:c.3173T>G
NM_000489.3:c.3287T>G
NP_612114.1:p.Leu1058Trp
NP_000480.2:p.Leu1096Trp
1/8745 0.00011 3 non_synonymous Uncertain Significance
View X 76937657 76937657 C > T ATRX ATRX NM_138270.2:c.2977G>A
NM_000489.3:c.3091G>A
NP_612114.1:p.Gly993Ser
NP_000480.2:p.Gly1031Ser
3/8745 0.00029 3 non_synonymous Uncertain Significance
View X 99663268 99663268 T > C PCDH19 PCDH19 PCDH19 NM_001105243.1:c.328A>G
NM_001184880.1:c.328A>G
NM_020766.2:c.328A>G
NP_001098713.1:p.Met110Val
NP_001171809.1:p.Met110Val
NP_065817.2:p.Met110Val
2/8745 0.00011 3 non_synonymous Uncertain Significance
View X 100652895 100652895 C > T GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.1192G>A
NM_001199973.1:c.408+2450C>T
NM_001199974.1:c.285+6085C>T
NP_000160.1:p.Glu398Lys
2/8745 0.00017 3 Uncertain Significance
View X 107420104 107420104 C > A COL4A6 COL4A6 NM_001847.2:c.2656G>T
NM_033641.2:c.2653G>T
NP_001838.2:p.Val886Phe
NP_378667.1:p.Val885Phe
3/6955 0.00022 3 non_synonymous Uncertain Significance
View X 128724236 128724236 G > A OCRL OCRL NM_000276.3:c.2695G>A
NM_001587.3:c.2671G>A
NP_000267.2:p.Glu899Lys
NP_001578.2:p.Glu891Lys
4/8745 0.00034 3 non_synonymous Uncertain Significance
View X 129281749 129281749 C > T AIFM1 AIFM1 AIFM1 AIFM1 NM_001130847.3:c.452G>A
NM_145813.2:c.107-10589G>A
NM_004208.3:c.452G>A
NM_145812.2:c.440G>A
NP_001124319.1:p.Arg151Gln
NP_004199.1:p.Arg151Gln
NP_665811.1:p.Arg147Gln
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View X 129290514 129290514 G > C AIFM1 AIFM1 AIFM1 AIFM1 NM_001130847.3:c.170C>G
NM_145813.2:c.106+9011C>G
NM_004208.3:c.170C>G
NM_145812.2:c.107-1253C>G
NP_001124319.1:p.Ser57Cys
NP_004199.1:p.Ser57Cys
2/6955 0.00022 3 non_synonymous Uncertain Significance
View X 130413173 130413173 A > C IGSF1 IGSF1 ENST00000370910.1:c.1691-24T>G
ENST00000370903.3:c.1718-9T>G
1/6955 7.0e-05 3 polypyrimidine_tract Uncertain Significance
View X 147744174 147744174 T > C AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.914T>C
NM_001169124.1:c.926T>C
NM_001169123.1:c.914T>C
NM_001169125.1:c.914T>C
NM_002025.3:c.926T>C
NP_001162593.1:p.Ile305Thr
NP_001162595.1:p.Ile309Thr
NP_001162594.1:p.Ile305Thr
NP_001162596.1:p.Ile305Thr
NP_002016.2:p.Ile309Thr
2/8745 0.00017 3 non_synonymous Uncertain Significance
View X 152954297 152954297 T > C SLC6A8 SLC6A8 NM_005629.3:c.262+6T>C
NM_001142805.1:c.262+6T>C
40/8745 0.00229 3 five_prime_flank Uncertain Significance
View X 153217045 153217045 C > A HCFC1 NM_005334.2:c.5374G>T
NP_005325.2:p.Gly1792Cys
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View X 153296191 153296191 T > G MECP2 MECP2 NM_001110792.1:c.1124A>C
NM_004992.3:c.1088A>C
NP_001104262.1:p.Lys375Thr
NP_004983.1:p.Lys363Thr
1/8745 6.0e-05 3 non_synonymous Uncertain Significance
View X 153580613 153580613 T > G FLNA FLNA NM_001456.3:c.6681A>C
NM_001110556.1:c.6705A>C
NP_001447.2:p.Glu2227Asp
NP_001104026.1:p.Glu2235Asp
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View X 153599549 153599549 T > C FLNA FLNA NM_001456.3:c.65A>G
NM_001110556.1:c.65A>G
NP_001447.2:p.Asp22Gly
NP_001104026.1:p.Asp22Gly
4/6955 0.00043 3 non_synonymous Uncertain Significance
View X 153628971 153628971 T > A RPL10 RPL10 RPL10 NM_001256580.1:c.384+4T>A
NM_001256577.1:c.330-72T>A
NM_006013.3:c.492+4T>A
2/8745 0.00017 3 five_prime_flank Uncertain Significance
View X 153629212 153629213 - > C RPL10 RPL10 RPL10 NM_001256580.1:c.*23dupC
NM_001256577.1:c.505dupC
NM_006013.3:c.*23dupC
NP_001243506.1:p.Leu169ProfsTer7
1/8745 6.0e-05 3 frameshift Uncertain Significance
View X 153667183 153667183 C > G GDI1 NM_001493.2:c.226C>G
NP_001484.1:p.Leu76Val
5/8745 0.00034 3 non_synonymous Uncertain Significance
Displaying 1,100 through 1,125 of 1,125 variants