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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 93303114 93303114 A > G TRNAN-GUU RPL5 FAM69A NM_000969.3:c.629A>G
NM_001252273.1:c.475-4523T>C
NP_000960.2:p.Tyr210Cys
110/8685 0.00633 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
143/8685 0.00829 4 non_synonymous Likely Benign
View 1 98144726 98144726 T > C DPYD TRNAN-GUU ENST00000370192.3:c.775A>G
ENSP00000359211.3:p.Lys259Glu
125/10962 0.00584 4 Likely Benign
View 1 100343254 100343254 G > A AGL AGL TRNAN-GUU AGL AGL AGL AGL NM_000642.2:c.1481G>A
NM_000643.2:c.1481G>A
NM_000644.2:c.1481G>A
NM_000645.2:c.1430G>A
NM_000646.2:c.1433G>A
NM_000028.2:c.1481G>A
NP_000633.2:p.Arg494His
NP_000634.2:p.Arg494His
NP_000635.2:p.Arg494His
NP_000636.2:p.Arg477His
NP_000637.2:p.Arg478His
NP_000019.2:p.Arg494His
129/10521 0.00613 4 Likely Benign
View 1 100382236 100382236 C > G AGL AGL TRNAN-GUU AGL AGL AGL AGL NM_000642.2:c.4430C>G
NM_000643.2:c.4430C>G
NM_000644.2:c.4430C>G
NM_000645.2:c.4379C>G
NM_000646.2:c.4382C>G
NM_000028.2:c.4430C>G
NP_000633.2:p.Thr1477Ser
NP_000634.2:p.Thr1477Ser
NP_000635.2:p.Thr1477Ser
NP_000636.2:p.Thr1460Ser
NP_000637.2:p.Thr1461Ser
NP_000019.2:p.Thr1477Ser
37/10521 0.00176 3 non_synonymous Likely Benign
View 1 100671780 100671780 A > C TRNAN-GUU DBT ENST00000370132.4:c.1281+6T>G
231/10521 0.01198 4 five_prime_flank Likely Benign
View 1 103428196 103428196 A > G COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.3060+13T>C
NM_001854.3:c.3024+13T>C
NM_001190709.1:c.2907+13T>C
NM_080630.3:c.2676+13T>C
15/8646 0.00087 4 five_prime_intronic Likely Benign
View 1 103463928 103463929 - > A COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.2179-10dupT
NM_001854.3:c.2143-10dupT
NM_001190709.1:c.2026-10dupT
NM_080630.3:c.1795-10dupT
31/8685 0.00178 4 polypyrimidine_tract Likely Benign
View 1 103471460 103471462 CAT > - COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.1828-12_1828-10del
NM_001854.3:c.1792-12_1792-10del
NM_001190709.1:c.1675-12_1675-10del
NM_080630.3:c.1444-12_1444-10del
4392/8676 0.39949 4 polypyrimidine_tract Likely Benign
View 1 103544374 103544374 C > G COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.328G>C
NM_001854.3:c.328G>C
NM_001190709.1:c.328G>C
NM_080630.3:c.328G>C
NP_542196.2:p.Gly110Arg
NP_001845.3:p.Gly110Arg
NP_001177638.1:p.Gly110Arg
NP_542197.3:p.Gly110Arg
18/8685 0.00104 4 non_synonymous Likely Benign
View 1 109472327 109472327 C > T TRNAN-GUU CLCC1 GPSM2 CLCC1 CLCC1 CLCC1 NM_001278202.1:c.*2842G>A
NM_013296.4:c.1820C>T
NM_001278203.1:c.*2842G>A
NM_015127.4:c.*2842G>A
NM_001048210.2:c.*2842G>A
NP_037428.3:p.Ser607Phe
37/8685 0.00213 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 110740918 110740918 A > G TRNAN-GUU SLC6A17 NM_001010898.2:c.2036A>G
NP_001010898.1:p.Lys679Arg
91/8685 0.00524 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 111144701 111144701 G > A TRNAN-GUU KCNA2 NM_001204269.1:c.986C>T
NP_001191198.1:p.Ala329Val
12/8676 0.00069 4 non_synonymous Likely Benign
View 1 114380740 114380741 - > ATT PTPN22 TRNAN-GUU PTPN22 ENST00000359785.5:c.1279_1281dupAAT
ENST00000528414.1:c.1114_1116dupAAT
ENSP00000352833.5:p.Asn427dup
ENSP00000435176.1:p.Asn372dup
19/8685 0.00109 4 in_frame_indel Likely Benign
View 1 114438448 114438448 T > C TRNAN-GUU AP4B1 AP4B1 AP4B1-AS1 AP4B1 NM_006594.3:c.1723A>G
NM_001253853.1:c.1426A>G
NR_037864.1:n.247-2042T>C
NM_001253852.1:c.1723A>G
NP_006585.2:p.Ile575Val
NP_001240782.1:p.Ile476Val
NP_001240781.1:p.Ile575Val
81/8685 0.00466 4 non_synonymous Likely Benign
View 1 114445358 114445358 T > C TRNAN-GUU AP4B1 AP4B1 AP4B1 NM_006594.3:c.240A>G
NM_001253853.1:c.-56-2A>G
NM_001253852.1:c.240A>G
NP_006585.2:p.Pro80=
NP_001240781.1:p.Pro80=
45/8686 0.00265 4 acceptor_site Likely Benign
View 1 115226990 115226991 - > A TRNAN-GUU AMPD1 AMPD1 NM_000036.2:c.481-6dupT
NM_001172626.1:c.469-6dupT
100/8685 0.00576 4 polypyrimidine_tract Likely Benign
View 1 115229413 115229413 C > T TRNAN-GUU AMPD1 AMPD1 NM_000036.2:c.433G>A
NM_001172626.1:c.421G>A
NP_000027.2:p.Val145Met
NP_001166097.1:p.Val141Met
12/8685 0.00069 4 non_synonymous Likely Benign
View 1 116206351 116206351 A > G TRNAN-GUU VANGL1 VANGL1 VANGL1 NM_001172412.1:c.274A>G
NM_001172411.1:c.268A>G
NM_138959.2:c.274A>G
NP_001165883.1:p.Ile92Val
NP_001165882.1:p.Ile90Val
NP_620409.1:p.Ile92Val
20/8685 0.00115 4 non_synonymous Likely Benign
View 1 116206400 116206400 A > G TRNAN-GUU VANGL1 VANGL1 VANGL1 NM_001172412.1:c.323A>G
NM_001172411.1:c.317A>G
NM_138959.2:c.323A>G
NP_001165883.1:p.Lys108Arg
NP_001165882.1:p.Lys106Arg
NP_620409.1:p.Lys108Arg
27/8685 0.00155 4 non_synonymous Likely Benign
View 1 119683231 119683231 A > C TRNAN-GUU WARS2 WARS2 NM_201263.2:c.37T>G
NM_015836.3:c.37T>G
NP_957715.1:p.Trp13Gly
NP_056651.1:p.Trp13Gly
73/8646 0.00422 4 non_synonymous Likely Benign
View 1 120269457 120269457 T > C TRNAN-GUU PHGDH NM_006623.3:c.357-17T>C
39/8646 0.00231 4 Common ExAC MAF original cat: TYPE_3 - three_prime_flank Likely Benign
View 1 120298113 120298113 G > C TRNAN-GUU HMGCS2 HMGCS2 NM_001166107.1:c.998C>G
NM_005518.3:c.1124C>G
NP_001159579.1:p.Ser333Cys
NP_005509.1:p.Ser375Cys
2/8685 0.00012 4 non_synonymous Likely Benign
View 1 120458122 120458122 A > T TRNAN-GUU NOTCH2 NM_024408.3:c.7223T>A
NP_077719.2:p.Leu2408His
41/8685 0.00236 4 Likely Benign
View 1 120458270 120458270 G > C TRNAN-GUU NOTCH2 NM_024408.3:c.7075C>G
NP_077719.2:p.Pro2359Ala
91/8685 0.00524 4 non_synonymous Likely Benign
View 1 120459122 120459122 C > T TRNAN-GUU NOTCH2 NM_024408.3:c.6223G>A
NP_077719.2:p.Val2075Met
35/8685 0.00213 4 non_synonymous Likely Benign
View 1 120468201 120468201 A > T TRNAN-GUU NOTCH2 NM_024408.3:c.4238T>A
NP_077719.2:p.Leu1413His
77/8685 0.00443 4 non_synonymous Likely Benign
View 1 120478125 120478125 A > C NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.3625T>G
NM_024408.3:c.3625T>G
NP_001186930.1:p.Phe1209Val
NP_077719.2:p.Phe1209Val
38/8685 0.00225 4 Likely Benign
View 1 120508991 120508991 G > A NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.1567+8C>T
NM_024408.3:c.1567+8C>T
12/8685 0.00069 4 five_prime_intronic Likely Benign
View 1 120512286 120512286 T > C NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.956A>G
NM_024408.3:c.956A>G
NP_001186930.1:p.Asn319Ser
NP_077719.2:p.Asn319Ser
2/8685 0.00012 4 non_synonymous Likely Benign
View 1 120539711 120539711 G > T NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.660C>A
NM_024408.3:c.660C>A
NP_001186930.1:p.Ser220Arg
NP_077719.2:p.Ser220Arg
68/8685 0.00391 4 non_synonymous Likely Benign
View 1 150470019 150470019 A > G TARS2 TARS2 TARS2 TARS2 TARS2 NR_073514.1:n.996A>G
NM_025150.4:c.1034A>G
NM_001271896.1:c.644A>G
NM_001271895.1:c.788A>G
NR_073513.1:n.520A>G
NP_079426.2:p.His345Arg
NP_001258825.1:p.His215Arg
NP_001258824.1:p.His263Arg
84/8685 0.00495 4 non_synonymous Likely Benign
View 1 150484317 150484317 C > T ECM1 ECM1 ECM1 NM_001202858.1:c.1164+10C>T
NM_004425.3:c.1083+10C>T
NM_022664.2:c.709-511C>T
54/8685 0.00311 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 1 150484844 150484844 A > T ECM1 ECM1 ECM1 NM_001202858.1:c.1181A>T
NM_004425.3:c.1100A>T
NM_022664.2:c.725A>T
NP_001189787.1:p.Asp394Val
NP_004416.2:p.Asp367Val
NP_073155.2:p.Asp242Val
151/8685 0.00875 4 non_synonymous Likely Benign
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
26/8685 0.0015 4 non_synonymous 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
7/8685 0.00046 4 non_synonymous Likely Benign
View 1 152279561 152279561 C > T FLG NM_002016.1:c.7801G>A
NP_002007.1:p.Asp2601Asn
34/8646 0.00197 4 non_synonymous Likely Benign
View 1 152283646 152283646 T > G FLG NM_002016.1:c.3716A>C
NP_002007.1:p.Glu1239Ala
8/8646 0.00046 4 non_synonymous Likely Benign
View 1 152284597 152284597 A > C FLG NM_002016.1:c.2765T>G
NP_002007.1:p.Ile922Ser
70/8646 0.00405 4 non_synonymous Likely Benign
View 1 153784559 153784559 G > A GATAD2B NM_020699.2:c.1469C>T
NP_065750.1:p.Ala490Val
122/8685 0.00702 4 non_synonymous Likely Benign
View 1 153790569 153790569 G > C GATAD2B NM_020699.2:c.676C>G
NP_065750.1:p.Pro226Ala
31/8686 0.00184 4 non_synonymous Likely Benign
View 1 154544490 154544490 G > C CHRNB2 NM_000748.2:c.1191G>C
NP_000739.1:p.Gln397His
170/8685 0.00996 4 non_synonymous Likely Benign
View 1 154544534 154544534 G > A CHRNB2 NM_000748.2:c.1235G>A
NP_000739.1:p.Gly412Asp
32/8685 0.00184 4 non_synonymous Likely Benign
View 1 154548331 154548331 T > C CHRNB2 NM_000748.2:c.1432T>C
NP_000739.1:p.Phe478Leu
47/8685 0.00271 4 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
57/8685 0.00334 4 non_synonymous 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
18/8685 0.00104 4 non_synonymous Likely Benign
View 1 154901525 154901525 A > G PMVK NM_006556.3:c.287T>C
NP_006547.1:p.Val96Ala
71/8646 0.00411 4 non_synonymous 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
96/10521 0.00461 4 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=
56/9385 0.00304 4 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
71/9345 0.0038 4 polypyrimidine_tract Likely Benign
Displaying 100 through 150 of 2,719 variants