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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 63063616 63063616 C > T TRNAN-GUU DOCK7 ANGPTL3 NM_033407.3:c.1683-11321G>A
NM_001272000.1:c.1683-11321G>A
NM_001271999.1:c.1683-11321G>A
NM_001272001.1:c.1683-11321G>A
NM_014495.3:c.379C>T
NM_001272002.1:c.1683-11321G>A
NP_055310.1:p.Leu127Phe
71/5120 0.00703 4 non_synonymous Likely Benign
View 1 63091086 63091086 A > - DOCK7 TRNAN-GUU NM_001272002.1:c.1283-14del
NM_001272001.1:c.1283-14del
NM_001271999.1:c.1283-14del
NM_001272000.1:c.1283-14del
NM_033407.3:c.1283-14del
74/5101 0.00735 4 polypyrimidine_tract Likely Benign
View 1 63877667 63877667 A > G TRNAN-GUU ALG6 NM_013339.3:c.751A>G
NP_037471.2:p.Thr251Ala
33/6913 0.00246 4 non_synonymous Likely Benign
View 1 65855298 65855298 C > T DNAJC6 TRNAN-GUU NM_001256864.1:c.1456C>T
NM_001256865.1:c.1246C>T
NM_014787.3:c.1285C>T
NP_001243793.1:p.Leu486Phe
NP_001243794.1:p.Leu416Phe
NP_055602.1:p.Leu429Phe
25/5119 0.00244 4 non_synonymous Likely Benign
View 1 93303114 93303114 A > G TRNAN-GUU FAM69A RPL5 NM_001252273.1:c.475-4523T>C
NM_000969.3:c.629A>G
NP_000960.2:p.Tyr210Cys
78/5119 0.00762 4 non_synonymous Likely Benign
View 1 95538424 95538424 C > T TRNAN-GUU ALG14 NM_144988.3:c.31G>A
NP_659425.1:p.Ala11Thr
88/5119 0.0086 4 non_synonymous Likely Benign
View 1 98144726 98144726 T > C TRNAN-GUU DPYD ENST00000370192.3:c.775A>G
ENSP00000359211.3:p.Lys259Glu
88/7192 0.00633 4 Likely Benign
View 1 100382236 100382236 C > G AGL TRNAN-GUU NM_000642.2:c.4430C>G
NM_000644.2:c.4430C>G
NM_000646.2:c.4382C>G
NM_000645.2:c.4379C>G
NM_000028.2:c.4430C>G
NM_000643.2:c.4430C>G
NP_000633.2:p.Thr1477Ser
NP_000635.2:p.Thr1477Ser
NP_000637.2:p.Thr1461Ser
NP_000636.2:p.Thr1460Ser
NP_000019.2:p.Thr1477Ser
NP_000634.2:p.Thr1477Ser
23/6913 0.00166 3 non_synonymous Likely Benign
View 1 100671780 100671780 A > C DBT TRNAN-GUU ENST00000370132.4:c.1281+6T>G
141/6913 0.01099 4 five_prime_flank Likely Benign
View 1 103544374 103544374 C > G COL11A1 TRNAN-GUU NM_001190709.1:c.328G>C
NM_080629.2:c.328G>C
NM_080630.3:c.328G>C
NM_001854.3:c.328G>C
NP_001177638.1:p.Gly110Arg
NP_542196.2:p.Gly110Arg
NP_542197.3:p.Gly110Arg
NP_001845.3:p.Gly110Arg
10/5119 0.00098 4 non_synonymous Likely Benign
View 1 109472327 109472327 C > T CLCC1 GPSM2 TRNAN-GUU NM_015127.4:c.*2842G>A
NM_001048210.2:c.*2842G>A
NM_001278203.1:c.*2842G>A
NM_013296.4:c.1820C>T
NM_001278202.1:c.*2842G>A
NP_037428.3:p.Ser607Phe
20/5119 0.00195 4 non_synonymous Likely Benign
View 1 110740918 110740918 A > G SLC6A17 TRNAN-GUU NM_001010898.2:c.2036A>G
NP_001010898.1:p.Lys679Arg
53/5119 0.00518 4 non_synonymous Likely Benign
View 1 114438448 114438448 T > C AP4B1 TRNAN-GUU AP4B1-AS1 NM_001253852.1:c.1723A>G
NM_001253853.1:c.1426A>G
NR_037864.1:n.247-2042T>C
NM_006594.3:c.1723A>G
NP_001240781.1:p.Ile575Val
NP_001240782.1:p.Ile476Val
NP_006585.2:p.Ile575Val
55/5119 0.00537 4 non_synonymous Likely Benign
View 1 114445358 114445358 T > C AP4B1 TRNAN-GUU NM_006594.3:c.240A>G
NM_001253853.1:c.-56-2A>G
NM_001253852.1:c.240A>G
NM_006594.3:c.240A>G(p.%3D)
NM_001253852.1:c.240A>G(p.%3D)
24/5120 0.00244 4 acceptor_site Likely Benign
View 1 115226990 115226991 - > A AMPD1 TRNAN-GUU NM_001172626.1:c.469-6dupT
NM_000036.2:c.481-6dupT
93/5119 0.00908 4 polypyrimidine_tract Likely Benign
View 1 116206351 116206351 A > G VANGL1 TRNAN-GUU NM_001172412.1:c.274A>G
NM_138959.2:c.274A>G
NM_001172411.1:c.268A>G
NP_001165883.1:p.Ile92Val
NP_620409.1:p.Ile92Val
NP_001165882.1:p.Ile90Val
12/5119 0.00117 4 non_synonymous Likely Benign
View 1 116206400 116206400 A > G VANGL1 TRNAN-GUU NM_001172412.1:c.323A>G
NM_138959.2:c.323A>G
NM_001172411.1:c.317A>G
NP_001165883.1:p.Lys108Arg
NP_620409.1:p.Lys108Arg
NP_001165882.1:p.Lys106Arg
21/5119 0.00205 4 non_synonymous Likely Benign
View 1 120269457 120269457 T > C PHGDH TRNAN-GUU NM_006623.3:c.357-17T>C
23/5101 0.00225 4 three_prime_flank Likely Benign
View 1 120298113 120298113 G > C TRNAN-GUU HMGCS2 NM_001166107.1:c.998C>G
NM_005518.3:c.1124C>G
NP_001159579.1:p.Ser333Cys
NP_005509.1:p.Ser375Cys
1/5119 0.0001 4 non_synonymous Likely Benign
View 1 150484844 150484844 A > T ECM1 NM_022664.2:c.725A>T
NM_004425.3:c.1100A>T
NM_001202858.1:c.1181A>T
NP_073155.2:p.Asp242Val
NP_004416.2:p.Asp367Val
NP_001189787.1:p.Asp394Val
87/5119 0.0085 4 non_synonymous Likely Benign
View 1 151377422 151377422 A > C POGZ NM_015100.3:c.4089T>G
NM_207171.2:c.3930T>G
NM_145796.3:c.3804T>G
NM_001194937.1:c.4062T>G
NM_001194938.1:c.3903T>G
NP_055915.2:p.His1363Gln
NP_997054.1:p.His1310Gln
NP_665739.3:p.His1268Gln
NP_001181866.1:p.His1354Gln
NP_001181867.1:p.His1301Gln
19/5119 0.00186 4 non_synonymous Likely Benign
View 1 152279561 152279561 C > T FLG NM_002016.1:c.7801G>A
NP_002007.1:p.Asp2601Asn
23/5101 0.00225 4 non_synonymous Likely Benign
View 1 153784559 153784559 G > A GATAD2B NM_020699.2:c.1469C>T
NP_065750.1:p.Ala490Val
78/5119 0.00762 4 non_synonymous Likely Benign
View 1 153790569 153790569 G > C GATAD2B NM_020699.2:c.676C>G
NP_065750.1:p.Pro226Ala
10/5120 0.00107 4 non_synonymous Likely Benign
View 1 154544490 154544490 G > C CHRNB2 NM_000748.2:c.1191G>C
NP_000739.1:p.Gln397His
98/5119 0.00987 4 non_synonymous Likely Benign
View 1 154570903 154570903 T > C ADAR NM_001025107.2:c.875A>G
ENST00000529168.1:c.1745A>G
ENST00000368474.4:c.1760A>G
NM_001193495.1:c.875A>G
NP_001020278.1:p.Tyr292Cys
ENSP00000431794.1:p.Tyr582Cys
ENSP00000357459.4:p.Tyr587Cys
NP_001180424.1:p.Tyr292Cys
25/5119 0.00254 4 non_synonymous Likely Benign
View 1 154574115 154574115 T > A ADAR NM_001025107.2:c.118A>T
ENST00000529168.1:c.988A>T
ENST00000368474.4:c.1003A>T
NM_001193495.1:c.118A>T
NP_001020278.1:p.Ile40Phe
ENSP00000431794.1:p.Ile330Phe
ENSP00000357459.4:p.Ile335Phe
NP_001180424.1:p.Ile40Phe
15/5119 0.00147 4 non_synonymous Likely Benign
View 1 154901525 154901525 A > G PMVK NM_006556.3:c.287T>C
NP_006547.1:p.Val96Ala
49/5101 0.0048 4 non_synonymous Likely Benign
View 1 155206037 155206037 G > A GBA NM_001005742.2:c.1223C>T
NM_001171812.1:c.1076C>T
NM_000157.3:c.1223C>T
NM_001171811.1:c.962C>T
NM_001005741.2:c.1223C>T
NP_001005742.1:p.Thr408Met
NP_001165283.1:p.Thr359Met
NP_000148.2:p.Thr408Met
NP_001165282.1:p.Thr321Met
NP_001005741.1:p.Thr408Met
66/6913 0.00477 4 Likely Benign
View 1 156100408 156100408 C > T LMNA NM_170707.3:c.357C>T
NR_047544.1:n.998C>T
NM_001257374.1:c.21C>T
NR_047545.1:n.245C>T
NM_170708.3:c.357C>T
NM_005572.3:c.357C>T
NM_170707.3:c.357C>T(p.%3D)
NM_001257374.1:c.21C>T(p.%3D)
NM_170708.3:c.357C>T(p.%3D)
NM_005572.3:c.357C>T(p.%3D)
33/5772 0.00295 4 Likely Benign
View 1 156851382 156851382 G > A 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
101/6913 0.00738 4 Likely Benign
View 1 158587368 158587368 T > C SPTA1 NM_003126.2:c.6559A>G
NP_003117.2:p.Lys2187Glu
25/5119 0.00244 4 non_synonymous Likely Benign
View 1 160090708 160090708 T > A ATP1A2 NM_000702.3:c.25T>A
NP_000693.1:p.Tyr9Asn
42/5119 0.0041 4 Likely Benign
View 1 160093165 160093165 G > A ATP1A2 NM_000702.3:c.340G>A
NP_000693.1:p.Gly114Ser
7/5119 0.00068 4 non_synonymous Likely Benign
View 1 160249362 160249362 A > G PEX19 NR_036492.1:n.796T>C
NR_036493.1:n.820T>C
NM_001193644.1:c.827T>C
NM_002857.3:c.879T>C
NP_001180573.1:p.Val276Ala
NM_002857.3:c.879T>C(p.%3D)
60/5120 0.00596 4 non_synonymous Likely Benign
View 1 160249857 160249857 T > C PEX19 NM_002857.3:c.771+3A>G
NR_036493.1:n.712+3A>G
NM_001193644.1:c.771+3A>G
NR_036492.1:n.688+3A>G
50/5119 0.00488 4 five_prime_flank Likely Benign
View 1 161180482 161180482 G > A NDUFS2 NM_001166159.1:c.968G>A
NM_004550.4:c.968G>A
NP_001159631.1:p.Arg323Gln
NP_004541.1:p.Arg323Gln
43/5119 0.0044 4 Likely Benign
View 1 162740180 162740180 C > T DDR2 NM_006182.2:c.1382C>T
NM_001014796.1:c.1382C>T
NP_006173.2:p.Ser461Leu
NP_001014796.1:p.Ser461Leu
14/5119 0.00137 4 non_synonymous Likely Benign
View 1 171605387 171605387 T > C MYOC NM_000261.1:c.1193A>G
NP_000252.1:p.Lys398Arg
65/5119 0.00635 4 Likely Benign
View 1 173823011 173823011 C > A DARS2 NM_018122.4:c.1642C>A
NP_060592.2:p.Leu548Met
30/5119 0.00293 4 non_synonymous Likely Benign
View 1 193219854 193219854 C > A CDC73 NM_024529.4:c.*12C>A
27/5101 0.00265 4 Likely Benign
View 1 197059382 197059382 T > C ASPM NM_001206846.1:c.5018A>G
NM_018136.4:c.9773A>G
NP_001193775.1:p.His1673Arg
NP_060606.3:p.His3258Arg
11/5119 0.00107 4 non_synonymous Likely Benign
View 1 197070594 197070594 A > G ASPM NM_018136.4:c.7787T>C
NM_001206846.1:c.4066-5300T>C
NP_060606.3:p.Val2596Ala
26/5119 0.00254 4 non_synonymous Likely Benign
View 1 197071654 197071654 C > A ASPM NM_018136.4:c.6727G>T
NM_001206846.1:c.4066-6360G>T
NP_060606.3:p.Val2243Leu
16/5119 0.00156 4 non_synonymous Likely Benign
View 1 197072640 197072640 T > C ASPM NM_018136.4:c.5741A>G
NM_001206846.1:c.4066-7346A>G
NP_060606.3:p.Gln1914Arg
10/5119 0.00098 4 non_synonymous Likely Benign
View 1 197074168 197074168 G > A ASPM NM_018136.4:c.4213C>T
NM_001206846.1:c.4066-8874C>T
NP_060606.3:p.Arg1405Cys
56/5119 0.00557 4 non_synonymous Likely Benign
View 1 197115345 197115345 C > T ASPM NM_001206846.1:c.223G>A
NM_018136.4:c.223G>A
NP_001193775.1:p.Ala75Thr
NP_060606.3:p.Ala75Thr
29/5119 0.00283 4 non_synonymous Likely Benign
View 1 200534651 200534651 T > G KIF14 NM_014875.2:c.3808A>C
NP_055690.1:p.Ser1270Arg
56/5119 0.00547 4 non_synonymous Likely Benign
View 1 201046164 201046164 C > T CACNA1S NM_000069.2:c.1711G>A
NP_000060.2:p.Val571Ile
9/5308 0.00085 3 non_synonymous Likely Benign
View 1 207780585 207780585 C > A CR1 NM_000651.4:c.5811-11C>A
NM_000573.3:c.4461-11C>A
90/5101 0.00892 4 polypyrimidine_tract Likely Benign
Displaying 50 through 100 of 1,587 variants