Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
91/8745 0.00675 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
93/8745 0.00715 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
2/8706 0.00017 3 non_synonymous Benign
View X 77301954 77301954 A > G ATP7A NM_000052.5:c.4390A>G
NP_000043.3:p.Ile1464Val
8/8954 0.00067 5 non_synonymous Benign
View X 100630121 100630121 G > A BTK NM_000061.2:c.141+11C>T
93/8709 0.00712 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
923/8745 0.07318 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
64/6916 0.0068 5 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
54/8745 0.00395 5 non_synonymous Benign
View X 108924380 108924381 - > A ACSL4 ACSL4 NM_022977.2:c.640-16dupT
NM_004458.2:c.517-16dupT
116/8707 0.0081 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
5/6955 0.0005 5 non_synonymous Benign
View X 119005968 119005968 G > C NDUFA1 NM_004541.3:c.94G>C
NP_004532.1:p.Gly32Arg
73/8745 0.00497 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
71/6955 0.00654 5 Benign
View X 122551245 122551245 T > A GRIA3 GRIA3 ENST00000371256.5:c.1501-8T>A
ENST00000264357.5:c.1501-8T>A
99/6955 0.0092 5 polypyrimidine_tract 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=
33/8745 0.00246 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
59/6955 0.00568 5 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
41/8745 0.00292 5 non_synonymous Benign
View X 136648899 136648899 G > T ZIC3 NM_003413.3:c.49G>T
NP_003404.1:p.Gly17Cys
25/8745 0.00177 5 Benign
View X 139586919 139586919 G > T SOX3 NM_005634.2:c.307C>A
NP_005625.2:p.Pro103Thr
61/8745 0.00457 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
91/8745 0.00709 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
27/8745 0.00189 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
5/8745 0.00034 5 non_synonymous Benign
View X 152954025 152954025 A > G SLC6A8 SLC6A8 NM_005629.3:c.-5A>G
NM_001142805.1:c.-5A>G
5843/8745 0.66484 5 ClinVar Benign variant Benign
View X 152959900 152959900 C > T SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.1494C>T
NM_001142805.1:c.1464C>T
NM_001142806.1:c.1149C>T
NP_005620.1:p.Tyr498=
NP_001136277.1:p.Tyr488=
NP_001136278.1:p.Tyr383=
47/8745 0.00343 5 five_prime_exonic Benign
View X 152959980 152959980 C > T SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.1496-8C>T
NM_001142805.1:c.1466-8C>T
NM_001142806.1:c.1151-8C>T
14/8745 0.00091 5 Benign
View X 152969508 152969508 G > A BCAP31 BCAP31 BCAP31 BCAP31 NM_001256447.1:c.383C>T
NM_005745.7:c.383C>T
NM_001139441.1:c.383C>T
NM_001139457.2:c.584C>T
NP_001243376.1:p.Thr128Met
NP_005736.3:p.Thr128Met
NP_001132913.1:p.Thr128Met
NP_001132929.1:p.Thr195Met
26/6955 0.00259 5 non_synonymous Benign
View X 153130543 153130543 G > C L1CAM L1CAM L1CAM L1CAM NM_001143963.2:c.2857C>G
NM_001278116.1:c.2872C>G
NM_000425.4:c.2872C>G
NM_024003.3:c.2872C>G
NP_001137435.1:p.Leu953Val
NP_001265045.1:p.Leu958Val
NP_000416.1:p.Leu958Val
NP_076493.1:p.Leu958Val
23/8745 0.00172 5 non_synonymous Benign
View X 153132233 153132233 C > T L1CAM L1CAM L1CAM L1CAM NM_001143963.2:c.2287G>A
NM_001278116.1:c.2302G>A
NM_000425.4:c.2302G>A
NM_024003.3:c.2302G>A
NP_001137435.1:p.Val763Ile
NP_001265045.1:p.Val768Ile
NP_000416.1:p.Val768Ile
NP_076493.1:p.Val768Ile
44/8745 0.00332 5 Benign
View X 153141264 153141264 G > A L1CAM L1CAM L1CAM L1CAM NM_001143963.2:c.28C>T
NM_001278116.1:c.28C>T
NM_000425.4:c.28C>T
NM_024003.3:c.28C>T
NP_001137435.1:p.Pro10Ser
NP_001265045.1:p.Pro10Ser
NP_000416.1:p.Pro10Ser
NP_076493.1:p.Pro10Ser
32/8745 0.00246 5 non_synonymous Benign
View X 153216900 153216900 C > T HCFC1 NM_005334.2:c.5418G>A
NP_005325.2:p.Met1806Ile
14/6955 0.00122 5 non_synonymous Benign
View X 153220056 153220056 G > A HCFC1 NM_005334.2:c.3794C>T
NP_005325.2:p.Ser1265Leu
8/6955 0.00065 3 non_synonymous Benign
View X 153220282 153220282 C > T HCFC1 NM_005334.2:c.3568G>A
NP_005325.2:p.Gly1190Ser
47/6955 0.0046 5 non_synonymous Benign
View X 153295949 153295949 C > T MECP2 MECP2 NM_001110792.1:c.1366G>A
NM_004992.3:c.1330G>A
NP_001104262.1:p.Ala456Thr
NP_004983.1:p.Ala444Thr
21/8745 0.00172 5 non_synonymous Benign
View X 153296071 153296071 G > A MECP2 MECP2 NM_001110792.1:c.1244C>T
NM_004992.3:c.1208C>T
NP_001104262.1:p.Pro415Leu
NP_004983.1:p.Pro403Leu
5/8745 0.00046 5 non_synonymous Benign
View X 153296106 153296111 AGGTGG > - MECP2 MECP2 NM_001110792.1:c.1204_1209del
NM_004992.3:c.1168_1173del
NP_001104262.1:p.Pro402_Pro403del
NP_004983.1:p.Pro390_Pro391del
8/8745 0.00057 5 Benign
View X 153296153 153296153 G > A MECP2 MECP2 NM_001110792.1:c.1162C>T
NM_004992.3:c.1126C>T
NP_001104262.1:p.Pro388Ser
NP_004983.1:p.Pro376Ser
21/8745 0.00137 5 Benign
View X 153296249 153296249 G > A MECP2 MECP2 NM_001110792.1:c.1066C>T
NM_004992.3:c.1030C>T
NP_001104262.1:p.Arg356Trp
NP_004983.1:p.Arg344Trp
5/8745 0.0004 5 Benign
View X 153296283 153296283 G > A MECP2 MECP2 NM_001110792.1:c.1032C>T
NM_004992.3:c.996C>T
NP_001104262.1:p.Ser344=
NP_004983.1:p.Ser332=
2/8745 0.00017 1 Benign
View X 153296596 153296596 G > C MECP2 MECP2 NM_001110792.1:c.719C>G
NM_004992.3:c.683C>G
NP_001104262.1:p.Thr240Ser
NP_004983.1:p.Thr228Ser
8/8745 0.00063 5 Benign
View X 153296677 153296677 G > A MECP2 MECP2 NM_001110792.1:c.638C>T
NM_004992.3:c.602C>T
NP_001104262.1:p.Ala213Val
NP_004983.1:p.Ala201Val
17/8745 0.00126 4 Benign
View X 153583007 153583007 C > T FLNA FLNA NM_001456.3:c.5266G>A
NM_001110556.1:c.5290G>A
NP_001447.2:p.Ala1756Thr
NP_001104026.1:p.Ala1764Thr
124/6955 0.01157 5 Benign
View X 153589848 153589848 G > A FLNA FLNA NM_001456.3:c.3035C>T
NM_001110556.1:c.3035C>T
NP_001447.2:p.Ser1012Leu
NP_001104026.1:p.Ser1012Leu
124/6955 0.01165 5 Benign
View X 153629294 153629294 T > A RPL10 RPL10 RPL10 NM_001256580.1:c.*99T>A
NM_001256577.1:c.581T>A
NM_006013.3:c.*99T>A
NP_001243506.1:p.Leu194His
34/8745 0.00263 5 non_synonymous Benign
View X 153642450 153642450 T > C TAZ TAZ TAZ TAZ TAZ NR_024048.1:n.780+546T>C
NM_181311.2:c.370+546T>C
NM_181312.2:c.383T>C
NM_000116.3:c.383T>C
NM_181313.2:c.370+546T>C
NP_851829.1:p.Phe128Ser
NP_000107.1:p.Phe128Ser
63/8745 0.00492 5 Benign
View X 153780386 153780386 G > A IKBKG IKBKG IKBKG IKBKG NM_001145255.1:c.169G>A
NM_001099856.2:c.373G>A
NM_001099857.1:c.169G>A
NM_003639.3:c.169G>A
NP_001138727.1:p.Glu57Lys
NP_001093326.2:p.Glu125Lys
NP_001093327.1:p.Glu57Lys
NP_003630.1:p.Glu57Lys
21/8745 0.0016 5 Benign
View X 153993816 153993816 A > - DKC1 ENST00000369550.5:c.171+14del
16/8706 0.00126 5 five_prime_intronic Benign
View X 153997446 153997446 A > C DKC1 ENST00000369550.5:c.776A>C
ENSP00000358563.5:p.His259Pro
7/8745 0.00051 3 non_synonymous Benign
View X 154189379 154189379 C > T F8 NM_000132.3:c.1508G>A
NP_000123.1:p.Arg503His
24/8745 0.00172 5 Benign
Displaying 750 through 797 of 797 variants