Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 151377422 151377422 A > C POGZ POGZ POGZ POGZ POGZ NM_207171.2:c.3930T>G
NM_001194937.1:c.4062T>G
NM_001194938.1:c.3903T>G
NM_015100.3:c.4089T>G
NM_145796.3:c.3804T>G
NP_997054.1:p.His1310Gln
NP_001181866.1:p.His1354Gln
NP_001181867.1:p.His1301Gln
NP_055915.2:p.His1363Gln
NP_665739.3:p.His1268Gln
33/13144 0.00126 4 curation Likely Benign
View 1 151384132 151384132 T > C POGZ POGZ POGZ POGZ POGZ NM_207171.2:c.1736A>G
NM_001194937.1:c.1868A>G
NM_001194938.1:c.1709A>G
NM_015100.3:c.1895A>G
NM_145796.3:c.1610A>G
NP_997054.1:p.Asn579Ser
NP_001181866.1:p.Asn623Ser
NP_001181867.1:p.Asn570Ser
NP_055915.2:p.Asn632Ser
NP_665739.3:p.Asn537Ser
15/13144 0.00061 4 curation Likely Benign
View 1 152279561 152279561 C > T FLG NM_002016.1:c.7801G>A
NP_002007.1:p.Asp2601Asn
47/13105 0.00179 4 curation Likely Benign
View 1 152283646 152283646 T > G FLG NM_002016.1:c.3716A>C
NP_002007.1:p.Glu1239Ala
16/13105 0.00061 4 curation Likely Benign
View 1 152284597 152284597 A > C FLG NM_002016.1:c.2765T>G
NP_002007.1:p.Ile922Ser
72/13105 0.00275 4 curation Likely Benign
View 1 153784559 153784559 G > A GATAD2B NM_020699.2:c.1469C>T
NP_065750.1:p.Ala490Val
168/13144 0.00639 4 curation Likely Benign
View 1 153790569 153790569 G > C GATAD2B NM_020699.2:c.676C>G
NP_065750.1:p.Pro226Ala
41/13144 0.00156 4 curation Likely Benign
View 1 154544490 154544490 G > C CHRNB2 NM_000748.2:c.1191G>C
NP_000739.1:p.Gln397His
242/13144 0.00928 4 curation Likely Benign
View 1 154544534 154544534 G > A CHRNB2 NM_000748.2:c.1235G>A
NP_000739.1:p.Gly412Asp
41/13144 0.00156 4 curation Likely Benign
View 1 154548331 154548331 T > C CHRNB2 NM_000748.2:c.1432T>C
NP_000739.1:p.Phe478Leu
63/13144 0.0024 4 curation Likely Benign
View 1 154570903 154570903 T > C ADAR ADAR ADAR ADAR ENST00000529168.1:c.1745A>G
NM_001025107.2:c.875A>G
ENST00000368474.4:c.1760A>G
NM_001193495.1:c.875A>G
ENSP00000431794.1:p.Tyr582Cys
NP_001020278.1:p.Tyr292Cys
ENSP00000357459.4:p.Tyr587Cys
NP_001180424.1:p.Tyr292Cys
82/13144 0.00316 4 curation Likely Benign
View 1 154574115 154574115 T > A ADAR ADAR ADAR ADAR ENST00000529168.1:c.988A>T
NM_001025107.2:c.118A>T
ENST00000368474.4:c.1003A>T
NM_001193495.1:c.118A>T
ENSP00000431794.1:p.Ile330Phe
NP_001020278.1:p.Ile40Phe
ENSP00000357459.4:p.Ile335Phe
NP_001180424.1:p.Ile40Phe
27/13144 0.00103 4 curation Likely Benign
View 1 154901525 154901525 A > G PMVK NM_006556.3:c.287T>C
NP_006547.1:p.Val96Ala
128/13105 0.00488 4 curation Likely Benign
View 1 155206037 155206037 G > A GBA GBA GBA GBA GBA NM_001171812.1:c.1076C>T
NM_001171811.1:c.962C>T
NM_001005741.2:c.1223C>T
NM_001005742.2:c.1223C>T
NM_000157.3:c.1223C>T
NP_001165283.1:p.Thr359Met
NP_001165282.1:p.Thr321Met
NP_001005741.1:p.Thr408Met
NP_001005742.1:p.Thr408Met
NP_000148.2:p.Thr408Met
152/14969 0.00511 4 curation Likely Benign
View 1 156100408 156100408 C > T LMNA LMNA LMNA LMNA LMNA LMNA NM_001257374.1:c.21C>T
NM_005572.3:c.357C>T
NR_047544.1:n.998C>T
NR_047545.1:n.245C>T
NM_170707.3:c.357C>T
NM_170708.3:c.357C>T
NP_001244303.1:p.Cys7=
NP_005563.1:p.Arg119=
NP_733821.1:p.Arg119=
NP_733822.1:p.Arg119=
75/13844 0.00274 4 curation Likely Benign
View 1 156104965 156104965 T > A LMNA LMNA LMNA LMNA LMNA LMNA NM_001257374.1:c.475-13T>A
NM_005572.3:c.811-13T>A
NR_047544.1:n.1452-13T>A
NR_047545.1:n.699-13T>A
NM_170707.3:c.811-13T>A
NM_170708.3:c.811-13T>A
111/12654 0.00443 4 curation Likely Benign
View 1 156851382 156851382 G > A NTRK1 NTRK1 NTRK1 NM_001007792.1:c.2231G>A
NM_002529.3:c.2339G>A
NM_001012331.1:c.2321G>A
NP_001007793.1:p.Arg744Gln
NP_002520.2:p.Arg780Gln
NP_001012331.1:p.Arg774Gln
171/14969 0.00575 4 curation Likely Benign
View 1 158587368 158587368 T > C SPTA1 NM_003126.2:c.6559A>G
NP_003117.2:p.Lys2187Glu
69/13144 0.00266 4 curation Likely Benign
View 1 160090708 160090708 T > A ATP1A2 NM_000702.3:c.25T>A
NP_000693.1:p.Tyr9Asn
93/13144 0.00358 4 curation Likely Benign
View 1 160093165 160093165 G > A ATP1A2 NM_000702.3:c.340G>A
NP_000693.1:p.Gly114Ser
21/13144 0.0008 4 curation Likely Benign
View 1 160099144 160099144 A > G ATP1A2 NM_000702.3:c.1415A>G
NP_000693.1:p.Asn472Ser
1/13144 4.0e-05 4 curation Likely Benign
View 1 160249362 160249362 A > G PEX19 PEX19 PEX19 PEX19 NM_001193644.1:c.827T>C
NM_002857.3:c.879T>C
NR_036493.1:n.820T>C
NR_036492.1:n.796T>C
NP_001180573.1:p.Val276Ala
NP_002848.1:p.Gly293=
166/13144 0.00639 4 curation Likely Benign
View 1 160249857 160249857 T > C PEX19 PEX19 PEX19 PEX19 NM_001193644.1:c.771+3A>G
NM_002857.3:c.771+3A>G
NR_036493.1:n.712+3A>G
NR_036492.1:n.688+3A>G
141/11994 0.00588 4 curation Likely Benign
View 1 161180482 161180482 G > A NDUFS2 NDUFS2 NM_001166159.1:c.968G>A
NM_004550.4:c.968G>A
NP_001159631.1:p.Arg323Gln
NP_004541.1:p.Arg323Gln
111/13144 0.00422 4 curation Likely Benign
View 1 161309335 161309336 - > T SDHC SDHC SDHC SDHC SDHC SDHC NM_003001.3:c.180-1038dupT
NM_001035511.1:c.180-1038dupT
NM_001035513.1:c.21-1038dupT
NM_001278172.1:c.78-1038dupT
NM_001035512.1:c.78-1038dupT
NR_103459.1:n.210-6dupT
60/11944 0.00268 4 curation Likely Benign
View 1 162740180 162740180 C > T DDR2 DDR2 NM_001014796.1:c.1382C>T
NM_006182.2:c.1382C>T
NP_001014796.1:p.Ser461Leu
NP_006173.2:p.Ser461Leu
26/13144 0.00099 4 curation Likely Benign
View 1 171605387 171605387 T > C MYOC NM_000261.1:c.1193A>G
NP_000252.1:p.Lys398Arg
169/13144 0.0065 4 curation Likely Benign
View 1 172411087 172411087 G > A C1orf105 PIGC PIGC NM_139240.3:c.22-3126G>A
NM_002642.3:c.676C>T
NM_153747.1:c.676C>T
NP_002633.1:p.Arg226Trp
NP_714969.1:p.Arg226Trp
244/13105 0.00931 4 curation Likely Benign
View 1 173823011 173823011 C > A DARS2 NM_018122.4:c.1642C>A
NP_060592.2:p.Leu548Met
70/13144 0.00266 4 curation Likely Benign
View 1 181724549 181724549 G > A CACNA1E CACNA1E CACNA1E NM_001205294.1:c.3932+16G>A
NM_001205293.1:c.3989+16G>A
NM_000721.3:c.3989+16G>A
120/11959 0.00506 4 curation Likely Benign
View 1 193219854 193219854 C > A CDC73 NM_024529.4:c.*12C>A
73/11947 0.00306 4 curation Likely Benign
View 1 196757530 196757530 T > C CFHR3 CFHR3 NM_001166624.1:c.431-1645T>C
NM_021023.5:c.613+2T>C
44/11988 0.00217 4 curation Likely Benign
View 1 197059232 197059232 C > A ASPM ASPM NM_001206846.1:c.5075-18G>T
NM_018136.4:c.9830-18G>T
11/11946 0.00046 4 curation Likely Benign
View 1 197059382 197059382 T > C ASPM ASPM NM_001206846.1:c.5018A>G
NM_018136.4:c.9773A>G
NP_001193775.1:p.His1673Arg
NP_060606.3:p.His3258Arg
38/13144 0.00145 4 curation Likely Benign
View 1 197060124 197060124 A > G ASPM ASPM NM_001206846.1:c.4737T>C
NM_018136.4:c.9492T>C
NP_001193775.1:p.Tyr1579=
NP_060606.3:p.Tyr3164=
19/13144 0.00072 4 curation Likely Benign
View 1 197070594 197070594 A > G ASPM ASPM NM_001206846.1:c.4066-5300T>C
NM_018136.4:c.7787T>C
NP_060606.3:p.Val2596Ala
99/13144 0.00377 4 curation Likely Benign
View 1 197071654 197071654 C > A ASPM ASPM NM_001206846.1:c.4066-6360G>T
NM_018136.4:c.6727G>T
NP_060606.3:p.Val2243Leu
40/13144 0.00152 4 curation Likely Benign
View 1 197072640 197072640 T > C ASPM ASPM NM_001206846.1:c.4066-7346A>G
NM_018136.4:c.5741A>G
NP_060606.3:p.Gln1914Arg
26/13144 0.00099 4 curation Likely Benign
View 1 197074168 197074168 G > A ASPM ASPM NM_001206846.1:c.4066-8874C>T
NM_018136.4:c.4213C>T
NP_060606.3:p.Arg1405Cys
125/13144 0.00479 4 curation Likely Benign
View 1 197115345 197115345 C > T ASPM ASPM NM_001206846.1:c.223G>A
NM_018136.4:c.223G>A
NP_001193775.1:p.Ala75Thr
NP_060606.3:p.Ala75Thr
87/13144 0.00331 4 curation Likely Benign
View 1 200534651 200534651 T > G KIF14 NM_014875.2:c.3808A>C
NP_055690.1:p.Ser1270Arg
154/13144 0.0059 4 curation Likely Benign
View 1 201046058 201046058 C > T CACNA1S NM_000069.2:c.1817G>A
NP_000060.2:p.Ser606Asn
221/13381 0.00826 4 curation Likely Benign
View 1 201046164 201046164 C > T CACNA1S NM_000069.2:c.1711G>A
NP_000060.2:p.Val571Ile
24/13381 0.0009 3 non_synonymous Likely Benign
View 1 201058391 201058391 A > G CACNA1S NM_000069.2:c.895T>C
NP_000060.2:p.Tyr299His
78/13381 0.00299 4 curation Likely Benign
View 1 201058513 201058513 C > A CACNA1S NM_000069.2:c.773G>T
NP_000060.2:p.Gly258Val
2/13381 7.0e-05 4 curation Likely Benign
View 1 202572108 202572109 CC > - SYT2 SYT2 NM_177402.4:c.465+20_465+21del
NM_001136504.1:c.465+20_465+21del
715/12058 0.051 4 curation Likely Benign
View 1 204378654 204378654 G > C PPP1R15B NM_032833.3:c.1886C>G
NP_116222.3:p.Ser629Cys
34/13144 0.00129 4 curation Likely Benign
View 1 204966474 204966474 G > A NFASC NFASC NFASC NFASC NM_001005388.2:c.2959G>A
NM_001160331.1:c.3136+6040G>A
NM_001160332.1:c.3091+6040G>A
NM_015090.3:c.3076+8540G>A
NP_001005388.2:p.Ala987Thr
137/13105 0.00523 3 non_synonymous Likely Benign
View 1 205128698 205128698 G > A DSTYK DSTYK NM_199462.2:c.2215C>T
NM_015375.2:c.2215C>T
NP_955749.1:p.Arg739Trp
NP_056190.1:p.Arg739Trp
48/13144 0.00183 4 curation Likely Benign
View 1 207780585 207780585 C > A CR1 CR1 NM_000651.4:c.5811-11C>A
NM_000573.3:c.4461-11C>A
220/11968 0.00932 4 curation Likely Benign
Displaying 150 through 200 of 3,378 variants