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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 52840559 52840559 C > T ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.2314G>A
NM_004153.3:c.2314G>A
NM_001190819.1:c.2299G>A
NP_001177747.1:p.Val772Ile
NP_004144.2:p.Val772Ile
NP_001177748.1:p.Val767Ile
136/13144 0.00517 4 curation Likely Benign
View 1 52867839 52867839 C > G ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.57G>C
NM_004153.3:c.57G>C
NM_001190819.1:c.57G>C
NP_001177747.1:p.Arg19Ser
NP_004144.2:p.Arg19Ser
NP_001177748.1:p.Arg19Ser
179/13144 0.00685 4 curation Likely Benign
View 1 53679053 53679053 C > G TRNAN-GUU CPT2 NM_000098.2:c.1763C>G
NP_000089.1:p.Ser588Cys
24/14969 0.0008 4 Likely Benign
View 1 61872217 61872217 C > - NFIA TRNAN-GUU NFIA NFIA NFIA NM_001145512.1:c.1390-5del
NM_005595.4:c.1255-5del
NM_001134673.3:c.1255-5del
NM_001145511.1:c.1231-5del
1166/12202 0.04979 4 curation Likely Benign
View 1 61872217 61872218 CC > - NFIA TRNAN-GUU NFIA NFIA NFIA NM_001145512.1:c.1390-6_1390-5del
NM_005595.4:c.1255-6_1255-5del
NM_001134673.3:c.1255-6_1255-5del
NM_001145511.1:c.1231-6_1231-5del
374/12003 0.01637 4 curation Likely Benign
View 1 63063616 63063616 C > T DOCK7 TRNAN-GUU DOCK7 ANGPTL3 DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1683-11321G>A
NM_001271999.1:c.1683-11321G>A
NM_014495.3:c.379C>T
NM_033407.3:c.1683-11321G>A
NM_001272002.1:c.1683-11321G>A
NM_001272001.1:c.1683-11321G>A
NP_055310.1:p.Leu127Phe
178/13144 0.00685 4 curation Likely Benign
View 1 63091086 63091086 A > - DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1283-14del
NM_001271999.1:c.1283-14del
NM_033407.3:c.1283-14del
NM_001272002.1:c.1283-14del
NM_001272001.1:c.1283-14del
181/11954 0.00761 4 curation Likely Benign
View 1 63877667 63877667 A > G TRNAN-GUU ALG6 NM_013339.3:c.751A>G
NP_037471.2:p.Thr251Ala
72/14969 0.00247 4 curation Likely Benign
View 1 64089432 64089432 G > A PGM1 TRNAN-GUU PGM1 PGM1 NM_001172818.1:c.300+1G>A
NM_002633.2:c.247-5664G>A
NM_001172819.1:c.-345-5664G>A
294/12015 0.01228 4 curation Likely Benign
View 1 65830300 65830300 T > G TRNAN-GUU DNAJC6 DNAJC6 DNAJC6 NM_001256864.1:c.194-18T>G
NM_001256865.1:c.-17-18T>G
NM_014787.3:c.23-18T>G
74/11946 0.00368 4 curation Likely Benign
View 1 65855298 65855298 C > T TRNAN-GUU DNAJC6 DNAJC6 DNAJC6 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
91/13144 0.00346 4 curation Likely Benign
View 1 74954952 74954952 A > C TRNAN-GUU FPGT-TNNI3K TNNI3K NM_001112808.2:c.2523+20A>C
NM_015978.2:c.2181+20A>C
168/11954 0.00703 4 five_prime_intronic Likely Benign
View 1 78392589 78392589 T > A TRNAN-GUU NEXN NEXN NM_001172309.1:c.672+12T>A
NM_144573.3:c.864+12T>A
84/11954 0.00351 4 curation Likely Benign
View 1 92756989 92756989 C > T TRNAN-GUU GLMN NM_053274.2:c.271G>A
NP_444504.1:p.Asp91Asn
44/13144 0.00167 4 Likely Benign
View 1 92762951 92762951 T > C TRNAN-GUU GLMN NM_053274.2:c.165+10A>G
75/11984 0.00313 4 curation Likely Benign
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
177/13144 0.00677 4 curation Likely Benign
View 1 95538424 95538424 C > T TRNAN-GUU ALG14 NM_144988.3:c.31G>A
NP_659425.1:p.Ala11Thr
229/13144 0.00875 4 curation Likely Benign
View 1 98144726 98144726 T > C DPYD TRNAN-GUU ENST00000370192.3:c.775A>G
ENSP00000359211.3:p.Lys259Glu
189/15597 0.00612 4 curation 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
181/14969 0.00605 4 curation 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
54/14969 0.00184 3 non_synonymous Likely Benign
View 1 100671780 100671780 A > C TRNAN-GUU DBT ENST00000370132.4:c.1281+6T>G
382/13850 0.01495 4 curation 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
21/11945 0.00088 4 curation 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
31/11983 0.00129 4 curation 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
7411/12854 0.48047 4 curation 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
25/13144 0.00095 4 curation 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
64/13144 0.00247 4 curation Likely Benign
View 1 110740918 110740918 A > G TRNAN-GUU SLC6A17 NM_001010898.2:c.2036A>G
NP_001010898.1:p.Lys679Arg
126/13144 0.00479 4 curation Likely Benign
View 1 111144701 111144701 G > A TRNAN-GUU KCNA2 NM_001204269.1:c.986C>T
NP_001191198.1:p.Ala329Val
18/13144 0.00068 4 curation 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
27/13144 0.00103 4 curation 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
129/13144 0.00491 4 curation 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=
55/13144 0.00209 4 curation Likely Benign
View 1 115226990 115226991 - > A TRNAN-GUU AMPD1 AMPD1 NM_000036.2:c.481-6dupT
NM_001172626.1:c.469-6dupT
102/11983 0.00426 4 curation 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
15/13144 0.00057 4 curation 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
32/13144 0.00122 4 curation 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
36/13144 0.00137 4 curation 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
111/13105 0.00424 4 curation Likely Benign
View 1 120269457 120269457 T > C TRNAN-GUU PHGDH NM_006623.3:c.357-17T>C
63/11950 0.00268 4 curation 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
2/13144 8.0e-05 4 curation Likely Benign
View 1 120458122 120458122 A > T TRNAN-GUU NOTCH2 NM_024408.3:c.7223T>A
NP_077719.2:p.Leu2408His
76/13144 0.00289 4 curation Likely Benign
View 1 120458270 120458270 G > C TRNAN-GUU NOTCH2 NM_024408.3:c.7075C>G
NP_077719.2:p.Pro2359Ala
137/13144 0.00521 4 curation Likely Benign
View 1 120459122 120459122 C > T TRNAN-GUU NOTCH2 NM_024408.3:c.6223G>A
NP_077719.2:p.Val2075Met
55/13144 0.00213 4 curation Likely Benign
View 1 120468201 120468201 A > T TRNAN-GUU NOTCH2 NM_024408.3:c.4238T>A
NP_077719.2:p.Leu1413His
116/13144 0.00441 4 curation 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
58/13144 0.00221 4 curation 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
19/11986 0.00079 4 curation 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
2/13144 8.0e-05 4 curation 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
69/13144 0.00262 4 curation 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
127/13144 0.00483 4 curation 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
77/11994 0.00321 4 curation 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
214/13144 0.00822 4 curation Likely Benign
View 1 151006406 151006406 C > G PRUNE1 ENST00000271620.3:c.1058C>G
ENSP00000271620.3:p.Pro353Arg
111/13105 0.00424 4 non_synonymous Likely Benign
Displaying 100 through 150 of 3,378 variants