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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
117/10521 0.00561 4 Likely Benign
View 1 158587368 158587368 T > C SPTA1 NM_003126.2:c.6559A>G
NP_003117.2:p.Lys2187Glu
46/8685 0.00271 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 160090708 160090708 T > A ATP1A2 NM_000702.3:c.25T>A
NP_000693.1:p.Tyr9Asn
64/8685 0.00368 4 Likely Benign
View 1 160093165 160093165 G > A ATP1A2 NM_000702.3:c.340G>A
NP_000693.1:p.Gly114Ser
14/8685 0.00081 4 non_synonymous Likely Benign
View 1 160099144 160099144 A > G ATP1A2 NM_000702.3:c.1415A>G
NP_000693.1:p.Asn472Ser
1/8685 6.0e-05 4 non_synonymous 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=
104/8686 0.00616 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous 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
90/8685 0.00518 4 five_prime_flank 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
69/8685 0.00409 4 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
50/8646 0.00312 4 three_prime_flank 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
17/8685 0.00098 4 non_synonymous Likely Benign
View 1 171605387 171605387 T > C MYOC NM_000261.1:c.1193A>G
NP_000252.1:p.Lys398Arg
111/8685 0.00651 4 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
163/8646 0.00943 4 non_synonymous Likely Benign
View 1 173823011 173823011 C > A DARS2 NM_018122.4:c.1642C>A
NP_060592.2:p.Leu548Met
53/8685 0.00305 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 193219854 193219854 C > A CDC73 NM_024529.4:c.*12C>A
54/8646 0.00312 4 Likely Benign
View 1 196757530 196757530 T > C CFHR3 CFHR3 NM_001166624.1:c.431-1645T>C
NM_021023.5:c.613+2T>C
31/8685 0.00213 4 donor_site Likely Benign
View 1 197059232 197059232 C > A ASPM ASPM NM_001206846.1:c.5075-18G>T
NM_018136.4:c.9830-18G>T
3/8647 0.00017 4 three_prime_flank 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
21/8685 0.00121 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous 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=
14/8685 0.00081 4 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
60/8685 0.00345 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous 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
31/8685 0.00178 4 non_synonymous 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
17/8685 0.00098 4 non_synonymous 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
83/8685 0.00484 4 non_synonymous 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
62/8685 0.00357 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 200534651 200534651 T > G KIF14 NM_014875.2:c.3808A>C
NP_055690.1:p.Ser1270Arg
89/8685 0.00518 4 non_synonymous Likely Benign
View 1 201046058 201046058 C > T CACNA1S NM_000069.2:c.1817G>A
NP_000060.2:p.Ser606Asn
136/8874 0.00766 4 Likely Benign
View 1 201046164 201046164 C > T CACNA1S NM_000069.2:c.1711G>A
NP_000060.2:p.Val571Ile
15/8874 0.00085 3 non_synonymous Likely Benign
View 1 201058391 201058391 A > G CACNA1S NM_000069.2:c.895T>C
NP_000060.2:p.Tyr299His
54/8874 0.00316 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 201058513 201058513 C > A CACNA1S NM_000069.2:c.773G>T
NP_000060.2:p.Gly258Val
2/8874 0.00011 4 non_synonymous 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
332/8647 0.03232 4 five_prime_intronic Likely Benign
View 1 204378654 204378654 G > C PPP1R15B NM_032833.3:c.1886C>G
NP_116222.3:p.Ser629Cys
31/8685 0.00178 4 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
32/8685 0.00184 4 non_synonymous Likely Benign
View 1 207780585 207780585 C > A CR1 CR1 NM_000651.4:c.5811-11C>A
NM_000573.3:c.4461-11C>A
146/8646 0.00856 4 polypyrimidine_tract Likely Benign
View 1 211652382 211652382 T > A RD3 RD3 NM_001164688.1:c.584A>T
NM_183059.2:c.584A>T
NP_001158160.1:p.Asp195Val
NP_898882.1:p.Asp195Val
165/8685 0.00956 4 Likely Benign
View 1 215848436 215848436 A > G USH2A ENST00000307340.3:c.12817T>C
ENSP00000305941.3:p.Tyr4273His
17/10521 0.00081 4 non_synonymous Likely Benign
View 1 216270422 216270422 T > C USH2A ENST00000307340.3:c.4758+3A>G
17/10521 0.00081 4 Likely Benign
View 1 216496932 216496932 C > G USH2A USH2A ENST00000366942.3:c.1434G>C
ENST00000307340.3:c.1434G>C
ENSP00000355909.3:p.Glu478Asp
ENSP00000305941.3:p.Glu478Asp
319/10521 0.01526 4 Likely Benign
View 1 218607532 218607532 G > C TGFB2 TGFB2 NM_001135599.2:c.703G>C
NM_003238.3:c.619G>C
NP_001129071.1:p.Val235Leu
NP_003229.1:p.Val207Leu
78/8685 0.00449 4 Likely Benign
View 1 220101127 220101127 T > C SLC30A10 SLC30A10 NR_046437.1:n.851+16A>G
NM_018713.2:c.640+16A>G
73/8646 0.0044 4 five_prime_intronic Likely Benign
View 1 225592184 225592184 A > C LBR LBR NM_194442.2:c.1609T>G
NM_002296.3:c.1609T>G
NP_919424.1:p.Ser537Ala
NP_002287.2:p.Ser537Ala
34/10521 0.00162 4 non_synonymous Likely Benign
View 1 226026573 226026573 T > C EPHX1 EPHX1 NM_000120.3:c.583T>C
NM_001136018.2:c.583T>C
NP_000111.1:p.Ser195Pro
NP_001129490.1:p.Ser195Pro
22/8939 0.00123 4 non_synonymous Likely Benign
View 1 227152761 227152761 C > T COQ8A NM_020247.4:c.238C>T
NP_064632.2:p.His80Tyr
29/10521 0.00138 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 228345567 228345567 C > T GJC2 NM_020435.3:c.108C>T
NP_065168.2:p.Ile36=
76/10521 0.00371 4 Likely Benign
View 1 228346652 228346652 C > T GJC2 NM_020435.3:c.1193C>T
NP_065168.2:p.Thr398Ile
31/10521 0.00152 4 Likely Benign
View 1 231114945 231114945 T > C ARV1 NM_022786.1:c.94T>C
NP_073623.1:p.Tyr32His
45/8685 0.00259 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 231830012 231830012 C > T DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 NM_001164540.1:c.508C>T
NM_001164541.1:c.508C>T
NM_001164544.1:c.508C>T
NM_001164545.1:c.508C>T
NM_001164542.1:c.508C>T
NM_001164548.1:c.508C>T
NM_001164549.1:c.508C>T
NM_001164546.1:c.508C>T
NM_001164547.1:c.508C>T
NR_028400.1:n.1336C>T
NM_001164539.1:c.508C>T
NM_001012957.1:c.508C>T
NM_001012958.1:c.508C>T
NM_001012959.1:c.508C>T
NM_001164551.1:c.508C>T
NM_001164552.1:c.508C>T
NM_001164550.1:c.508C>T
NM_001164555.1:c.508C>T
NM_001164556.1:c.68-55660C>T
NM_018662.2:c.508C>T
NM_001164553.1:c.508C>T
NM_001164554.1:c.508C>T
NM_001164538.1:c.508C>T
NM_001164537.1:c.508C>T
NR_028394.1:n.1357C>T
NR_028395.1:n.1357C>T
NR_028393.1:n.1229C>T
NR_028398.1:n.848C>T
NR_028399.1:n.1464C>T
NR_028396.1:n.1229C>T
NR_028397.1:n.1094C>T
NP_001158012.1:p.Arg170Cys
NP_001158013.1:p.Arg170Cys
NP_001158016.1:p.Arg170Cys
NP_001158017.1:p.Arg170Cys
NP_001158014.1:p.Arg170Cys
NP_001158020.1:p.Arg170Cys
NP_001158021.1:p.Arg170Cys
NP_001158018.1:p.Arg170Cys
NP_001158019.1:p.Arg170Cys
NP_001158011.1:p.Arg170Cys
NP_001012975.1:p.Arg170Cys
NP_001012976.1:p.Arg170Cys
NP_001012977.1:p.Arg170Cys
NP_001158023.1:p.Arg170Cys
NP_001158024.1:p.Arg170Cys
NP_001158022.1:p.Arg170Cys
NP_001158027.1:p.Arg170Cys
NP_061132.2:p.Arg170Cys
NP_001158025.1:p.Arg170Cys
NP_001158026.1:p.Arg170Cys
NP_001158010.1:p.Arg170Cys
NP_001158009.1:p.Arg170Cys
26/8685 0.00155 4 non_synonymous Likely Benign
View 1 231902975 231902975 C > T DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 DISC1 NM_001012959.1:c.1358C>T
NM_001164540.1:c.1268+17153C>T
NM_001164541.1:c.1358C>T
NM_001164544.1:c.1358C>T
NM_001164545.1:c.1358C>T
NM_001164556.1:c.308C>T
NM_018662.2:c.1358C>T
NM_001164542.1:c.1358C>T
NM_001164548.1:c.1358C>T
NM_001164549.1:c.1358C>T
NM_001164538.1:c.1358C>T
NM_001164546.1:c.1358C>T
NM_001164537.1:c.1454C>T
NM_001164547.1:c.1358C>T
NM_001164539.1:c.1358C>T
NR_028394.1:n.2207C>T
NR_028395.1:n.2207C>T
NR_028393.1:n.2079C>T
NR_028398.1:n.1698C>T
NR_028396.1:n.2079C>T
NR_028397.1:n.1944C>T
NM_001012957.1:c.1358C>T
NP_001012977.1:p.Thr453Met
NP_001158013.1:p.Thr453Met
NP_001158016.1:p.Thr453Met
NP_001158017.1:p.Thr453Met
NP_001158028.1:p.Thr103Met
NP_061132.2:p.Thr453Met
NP_001158014.1:p.Thr453Met
NP_001158020.1:p.Thr453Met
NP_001158021.1:p.Thr453Met
NP_001158010.1:p.Thr453Met
NP_001158018.1:p.Thr453Met
NP_001158009.1:p.Thr485Met
NP_001158019.1:p.Thr453Met
NP_001158011.1:p.Thr453Met
NP_001012975.1:p.Thr453Met
32/8685 0.00184 4 non_synonymous Likely Benign
View 1 235543481 235543498 TGTGTGTGTGTGTGTGTG > - TBCE TBCE NM_001079515.1:c.100+48_100+65del
NM_003193.3:c.100+48_100+65del
261/10482 0.01293 4 five_prime_intronic Likely Benign
View 1 235600671 235600671 G > C TBCE TBCE NM_001079515.1:c.998G>C
NM_003193.3:c.998G>C
NP_001072983.1:p.Ser333Thr
NP_003184.1:p.Ser333Thr
66/10521 0.00318 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 235840495 235840495 G > T LYST NM_000081.3:c.10941-7C>A
171/10521 0.00817 4 polypyrimidine_tract Likely Benign
View 1 235938329 235938329 A > C LYST NM_000081.3:c.5518T>G
NP_000072.2:p.Ser1840Ala
117/10521 0.00561 4 non_synonymous Likely Benign
Displaying 150 through 200 of 2,719 variants