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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 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
4/14969 0.00017 5 curation 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=
79/14969 0.00337 5 curation 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
19/13810 0.00083 5 curation 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
46/13144 0.00236 5 curation Benign
View X 152990759 152990759 A > C ABCD1 NM_000033.3:c.38A>C
NP_000024.2:p.Asn13Thr
40/14969 0.00177 5 curation Benign
View X 153008708 153008708 C > T ABCD1 NM_000033.3:c.1899C>T
NP_000024.2:p.Ser633=
98/14969 0.00337 5 curation Benign
View X 153070670 153070670 G > C PDZD4 NM_032512.2:c.652-8C>G
17/11946 0.0008 5 curation 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
53/14969 0.00247 5 curation 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
70/14969 0.00311 5 curation 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
55/14969 0.00247 5 curation Benign
View X 153200319 153200319 C > T NAA10 NAA10 NAA10 NM_003491.3:c.21+18G>A
NM_001256119.1:c.21+18G>A
NM_001256120.1:c.21+18G>A
38/11945 0.00197 5 curation Benign
View X 153216900 153216900 C > T HCFC1 NM_005334.2:c.5418G>A
NP_005325.2:p.Met1806Ile
27/13144 0.00126 5 curation Benign
View X 153220056 153220056 G > A HCFC1 NM_005334.2:c.3794C>T
NP_005325.2:p.Ser1265Leu
14/13144 0.00057 1 Benign
View X 153220282 153220282 C > T HCFC1 NM_005334.2:c.3568G>A
NP_005325.2:p.Gly1190Ser
84/13144 0.00434 5 curation Benign
View X 153223165 153223165 A > G HCFC1 NM_005334.2:c.2133+68T>C
86/11946 0.0046 5 curation 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
31/14969 0.0014 5 curation 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
5/14969 0.00027 5 curation 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
8/14969 0.00033 5 curation 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
27/14969 0.0011 5 curation 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
5/14969 0.00023 5 curation 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=
2/14969 0.0001 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
18/14969 0.00077 5 curation 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
26/14969 0.0011 4 curation Benign
View X 153577129 153577129 G > A FLNA FLNA NM_001456.3:c.*88C>T
NM_001110556.1:c.*88C>T
103/11951 0.00577 5 3 prime UTR 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
252/13144 0.01263 5 curation Benign
View X 153587375 153587375 T > C FLNA FLNA NM_001456.3:c.4451A>G
NM_001110556.1:c.4451A>G
NP_001447.2:p.Gln1484Arg
NP_001104026.1:p.Gln1484Arg
26/13144 0.00141 5 curation 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
254/13144 0.01274 5 curation 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
54/14969 0.00244 5 curation 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
104/14969 0.00454 5 curation Benign
View X 153760654 153760654 G > A G6PD G6PD NM_000402.3:c.1401C>T
NM_001042351.1:c.1311C>T
NP_000393.4:p.Tyr467=
NP_001035810.1:p.Tyr437=
3175/15597 0.14112 5 curation 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
36/14969 0.0016 5 curation Benign
View X 153993816 153993816 A > - DKC1 ENST00000369550.5:c.171+14del
25/13773 0.00123 5 curation Benign
View X 153997446 153997446 A > C DKC1 ENST00000369550.5:c.776A>C
ENSP00000358563.5:p.His259Pro
12/14969 0.00053 3 non_synonymous Benign
View X 154005092 154005094 AAG > - DKC1 ENST00000369550.5:c.1512_1514del
ENSP00000358563.5:p.Lys505del
39/14969 0.00134 5 Benign
View X 154189379 154189379 C > T F8 NM_000132.3:c.1508G>A
NP_000123.1:p.Arg503His
37/14969 0.00157 5 curation Benign
Displaying 1,200 through 1,235 of 1,235 variants