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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 53263460 53263460 C > T IQSEC2 IQSEC2 NM_001111125.2:c.4408G>A
NM_015075.1:c.*893G>A
NP_001104595.1:p.Ala1470Thr
130/9594 0.0086 5 non_synonymous Benign
View X 53602185 53602185 A > T HUWE1 NM_031407.5:c.6031-4T>A
63/11422 0.00376 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View X 53607786 53607786 C > T HUWE1 NM_031407.5:c.5716+5G>A
61/11422 0.00363 5 five_prime_flank Benign
View X 53635887 53635887 G > T HUWE1 NM_031407.5:c.2262-17C>A
61/11383 0.00378 5 three_prime_flank Benign
View X 66942625 66942625 G > A AR AR NM_000044.3:c.2450-44G>A
NM_001011645.2:c.854-44G>A
318/11386 0.01831 5 Benign
View X 67426446 67426446 G > A OPHN1 NM_002547.2:c.902C>T
NP_002538.1:p.Thr301Met
23/11422 0.00144 5 non_synonymous Benign
View X 68059812 68059812 C > T EFNB1 NM_004429.4:c.509C>T
NP_004420.1:p.Ala170Val
33/11422 0.00193 5 non_synonymous Benign
View X 68836358 68836358 G > T EDA EDA EDA EDA EDA NM_001005609.1:c.206G>T
NM_001005613.2:c.206G>T
NM_001005610.2:c.206G>T
NM_001005612.2:c.206G>T
NM_001399.4:c.206G>T
NP_001005609.1:p.Arg69Leu
NP_001005613.1:p.Arg69Leu
NP_001005610.2:p.Arg69Leu
NP_001005612.2:p.Arg69Leu
NP_001390.1:p.Arg69Leu
85/11422 0.00521 4 Benign
View X 69176938 69176938 G > A EDA EDA EDA NM_001005609.1:c.458G>A
NM_001005612.2:c.458G>A
NM_001399.4:c.458G>A
NP_001005609.1:p.Arg153His
NP_001005612.2:p.Arg153His
NP_001390.1:p.Arg153His
36/11422 0.00214 5 Benign
View X 69563562 69563562 G > T KIF4A ENST00000374403.3:c.1276G>T
ENSP00000363524.3:p.Ala426Ser
29/9594 0.00198 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 69665355 69665355 G > A DLG3 NM_021120.3:c.304G>A
NP_066943.2:p.Gly102Ser
64/11422 0.00372 5 non_synonymous Benign
View X 70357135 70357135 G > A MED12 NM_005120.2:c.5650G>A
NP_005111.2:p.Gly1884Ser
33/11422 0.00206 5 non_synonymous Benign
View X 70444261 70444261 T > G GJB1 GJB1 NM_000166.5:c.704T>G
NM_001097642.2:c.704T>G
NP_000157.1:p.Phe235Cys
NP_001091111.1:p.Phe235Cys
9/9594 0.00052 5 Benign
View X 71791977 71791978 - > A HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 NM_001166418.1:c.112-17dupT
NM_001166419.1:c.112-17dupT
NM_018486.2:c.112-17dupT
NM_001166448.1:c.112-17dupT
NM_001166420.1:c.112-17dupT
NM_001166422.1:c.112-17dupT
NR_051952.1:n.454-17dupT
34/9555 0.00178 5 three_prime_flank 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
5/9594 0.00031 5 non_synonymous Benign
View X 73960146 73960146 G > A NEXMIF NM_001008537.2:c.4246C>T
NP_001008537.1:p.Pro1416Ser
58/9594 0.0037 5 non_synonymous 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
118/11422 0.0067 5 ClinVar pathogenic variant 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
128/11422 0.00735 5 non_synonymous 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
25/11422 0.00144 5 non_synonymous 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
3/11383 0.00018 3 non_synonymous Benign
View X 77294411 77294411 A > G ATP7A NM_000052.5:c.3589A>G
NP_000043.3:p.Asn1197Asp
6/11765 0.0003 5 non_synonymous Benign
View X 77301954 77301954 A > G ATP7A NM_000052.5:c.4390A>G
NP_000043.3:p.Ile1464Val
11/11765 0.00072 5 non_synonymous Benign
View X 100630121 100630121 G > A BTK NM_000061.2:c.141+11C>T
120/11386 0.00685 5 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
1141/11422 0.06912 5 ClinVar Benign variant 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
85/9555 0.00659 5 Benign
View X 102192422 102192422 A > G RAB40AL NM_001031834.1:c.176A>G
NP_001027004.1:p.Asp59Gly
38/9594 0.00261 5 non_synonymous Benign
View X 102192423 102192423 C > A RAB40AL NM_001031834.1:c.177C>A
NP_001027004.1:p.Asp59Glu
37/9594 0.00255 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
72/11422 0.00416 5 non_synonymous Benign
View X 108924380 108924381 - > A ACSL4 ACSL4 NM_022977.2:c.640-16dupT
NM_004458.2:c.517-16dupT
149/11384 0.00835 5 three_prime_flank 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
7/9594 0.00057 5 non_synonymous 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
40/9594 0.00229 5 in_frame_indel Benign
View X 119005968 119005968 G > C NDUFA1 NM_004541.3:c.94G>C
NP_004532.1:p.Gly32Arg
104/11422 0.00569 5 ClinVar pathogenic variant 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
101/9594 0.00683 5 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
27/9594 0.00188 5 Benign
View X 122551245 122551245 T > A GRIA3 GRIA3 ENST00000371256.5:c.1501-8T>A
ENST00000264357.5:c.1501-8T>A
135/9594 0.00902 5 polypyrimidine_tract 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
102/9555 0.00539 5 three_prime_flank 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=
43/11422 0.0025 5 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
88/9594 0.00615 5 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
18/11422 0.00096 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
59/11422 0.00315 5 non_synonymous Benign
View X 135954484 135954486 ATA > - RBMX NM_001164803.1:c.559_561del
NP_001158275.1:p.Tyr187del
89/9555 0.00576 5 in_frame_indel Benign
View X 136648899 136648899 G > T ZIC3 NM_003413.3:c.49G>T
NP_003404.1:p.Gly17Cys
42/11422 0.00241 5 Benign
View X 139586919 139586919 G > T SOX3 NM_005634.2:c.307C>A
NP_005625.2:p.Pro103Thr
90/11422 0.0053 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 139587099 139587099 C > T SOX3 NM_005634.2:c.127G>A
NP_005625.2:p.Ala43Thr
117/11422 0.007 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 139587212 139587212 C > T SOX3 NM_005634.2:c.14G>A
NP_005625.2:p.Arg5Gln
34/11422 0.00179 5 non_synonymous 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
5/11422 0.00026 5 non_synonymous 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
50/9594 0.0036 5 non_synonymous Benign
View X 152860096 152860096 C > T CCNQ ENST00000406277.2:c.332G>A
ENSP00000384396.2:p.Arg111His
59/9594 0.00396 5 non_synonymous Benign
View X 152954025 152954025 A > G SLC6A8 SLC6A8 NM_005629.3:c.-5A>G
NM_001142805.1:c.-5A>G
7812/11422 0.68119 5 ClinVar Benign variant Benign
View X 152959380 152959380 G > A SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.1162G>A
NM_001142805.1:c.1132G>A
NM_001142806.1:c.817G>A
NP_005620.1:p.Ala388Thr
NP_001136277.1:p.Ala378Thr
NP_001136278.1:p.Ala273Thr
4/11422 0.00022 5 non_synonymous Benign
Displaying 950 through 1,000 of 1,030 variants