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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 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
10/6213 0.0008 4 non_synonymous Likely Benign
View 1 116206351 116206351 A > G VANGL1 TRNAN-GUU VANGL1 VANGL1 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
16/6213 0.00129 4 non_synonymous Likely Benign
View 1 116206400 116206400 A > G VANGL1 TRNAN-GUU VANGL1 VANGL1 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
21/6213 0.00169 4 non_synonymous Likely Benign
View 1 119683231 119683231 A > C WARS2 TRNAN-GUU WARS2 NM_201263.2:c.37T>G
NM_015836.3:c.37T>G
NP_957715.1:p.Trp13Gly
NP_056651.1:p.Trp13Gly
54/6174 0.00437 4 non_synonymous Likely Benign
View 1 120269457 120269457 T > C PHGDH TRNAN-GUU NM_006623.3:c.357-17T>C
28/6174 0.00227 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
2/6213 0.00016 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
28/6213 0.00225 4 Likely Benign
View 1 120458270 120458270 G > C TRNAN-GUU NOTCH2 NM_024408.3:c.7075C>G
NP_077719.2:p.Pro2359Ala
65/6213 0.00523 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
24/6213 0.00201 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
58/6213 0.00467 4 non_synonymous Likely Benign
View 1 120478125 120478125 A > C TRNAN-GUU NOTCH2 NOTCH2 NM_001200001.1:c.3625T>G
NM_024408.3:c.3625T>G
NP_001186930.1:p.Phe1209Val
NP_077719.2:p.Phe1209Val
31/6213 0.00258 4 Likely Benign
View 1 120508991 120508991 G > A TRNAN-GUU NOTCH2 NOTCH2 NM_001200001.1:c.1567+8C>T
NM_024408.3:c.1567+8C>T
7/6213 0.00056 4 five_prime_intronic Likely Benign
View 1 120539711 120539711 G > T TRNAN-GUU NOTCH2 NOTCH2 NM_001200001.1:c.660C>A
NM_024408.3:c.660C>A
NP_001186930.1:p.Ser220Arg
NP_077719.2:p.Ser220Arg
68/6213 0.00547 4 non_synonymous Likely Benign
View 1 150470019 150470019 A > G TARS2 TARS2 TARS2 TARS2 TARS2 NR_073513.1:n.520A>G
NR_073514.1:n.996A>G
NM_001271895.1:c.788A>G
NM_001271896.1:c.644A>G
NM_025150.4:c.1034A>G
NP_001258824.1:p.His263Arg
NP_001258825.1:p.His215Arg
NP_079426.2:p.His345Arg
63/6213 0.00523 4 non_synonymous Likely Benign
View 1 150484317 150484317 C > T ECM1 ECM1 ECM1 NM_022664.2:c.709-511C>T
NM_004425.3:c.1083+10C>T
NM_001202858.1:c.1164+10C>T
40/6213 0.00322 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 1 150484844 150484844 A > T ECM1 ECM1 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
114/6213 0.00917 4 non_synonymous Likely Benign
View 1 151377422 151377422 A > C POGZ POGZ POGZ POGZ POGZ NM_015100.3:c.4089T>G
NM_207171.2:c.3930T>G
NM_145796.3:c.3804T>G
NM_001194938.1:c.3903T>G
NM_001194937.1:c.4062T>G
NP_055915.2:p.His1363Gln
NP_997054.1:p.His1310Gln
NP_665739.3:p.His1268Gln
NP_001181867.1:p.His1301Gln
NP_001181866.1:p.His1354Gln
20/6213 0.00161 4 non_synonymous Likely Benign
View 1 151384132 151384132 T > C POGZ POGZ POGZ POGZ POGZ NM_015100.3:c.1895A>G
NM_207171.2:c.1736A>G
NM_145796.3:c.1610A>G
NM_001194938.1:c.1709A>G
NM_001194937.1:c.1868A>G
NP_055915.2:p.Asn632Ser
NP_997054.1:p.Asn579Ser
NP_665739.3:p.Asn537Ser
NP_001181867.1:p.Asn570Ser
NP_001181866.1:p.Asn623Ser
7/6213 0.00064 4 non_synonymous Likely Benign
View 1 152279561 152279561 C > T FLG NM_002016.1:c.7801G>A
NP_002007.1:p.Asp2601Asn
27/6174 0.00219 4 non_synonymous Likely Benign
View 1 152283646 152283646 T > G FLG NM_002016.1:c.3716A>C
NP_002007.1:p.Glu1239Ala
7/6174 0.00057 4 non_synonymous Likely Benign
View 1 153784559 153784559 G > A GATAD2B NM_020699.2:c.1469C>T
NP_065750.1:p.Ala490Val
90/6213 0.00724 4 non_synonymous Likely Benign
View 1 153790569 153790569 G > C GATAD2B NM_020699.2:c.676C>G
NP_065750.1:p.Pro226Ala
16/6214 0.00137 4 non_synonymous Likely Benign
View 1 154544490 154544490 G > C CHRNB2 NM_000748.2:c.1191G>C
NP_000739.1:p.Gln397His
119/6213 0.00982 4 non_synonymous Likely Benign
View 1 154548331 154548331 T > C CHRNB2 NM_000748.2:c.1432T>C
NP_000739.1:p.Phe478Leu
32/6213 0.00258 4 Likely Benign
View 1 154570903 154570903 T > C ADAR ADAR ADAR ADAR NM_001025107.2:c.875A>G
ENST00000368474.4:c.1760A>G
ENST00000529168.1:c.1745A>G
NM_001193495.1:c.875A>G
NP_001020278.1:p.Tyr292Cys
ENSP00000357459.4:p.Tyr587Cys
ENSP00000431794.1:p.Tyr582Cys
NP_001180424.1:p.Tyr292Cys
36/6213 0.00298 4 non_synonymous Likely Benign
View 1 154574115 154574115 T > A ADAR ADAR ADAR ADAR NM_001025107.2:c.118A>T
ENST00000368474.4:c.1003A>T
ENST00000529168.1:c.988A>T
NM_001193495.1:c.118A>T
NP_001020278.1:p.Ile40Phe
ENSP00000357459.4:p.Ile335Phe
ENSP00000431794.1:p.Ile330Phe
NP_001180424.1:p.Ile40Phe
16/6213 0.00129 4 non_synonymous Likely Benign
View 1 154901525 154901525 A > G PMVK NM_006556.3:c.287T>C
NP_006547.1:p.Val96Ala
58/6174 0.0047 4 non_synonymous Likely Benign
View 1 155206037 155206037 G > A GBA GBA GBA GBA 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
73/8004 0.00456 4 Likely Benign
View 1 156100408 156100408 C > T LMNA LMNA LMNA LMNA LMNA LMNA NR_047544.1:n.998C>T
NM_005572.3:c.357C>T
NM_170708.3:c.357C>T
NR_047545.1:n.245C>T
NM_170707.3:c.357C>T
NM_001257374.1:c.21C>T
NP_005563.1:p.Arg119=
NP_733822.1:p.Arg119=
NP_733821.1:p.Arg119=
NP_001244303.1:p.Cys7=
35/6866 0.00262 4 Likely Benign
View 1 156104965 156104965 T > A LMNA LMNA LMNA LMNA LMNA LMNA NR_047544.1:n.1452-13T>A
NM_005572.3:c.811-13T>A
NM_170708.3:c.811-13T>A
NR_047545.1:n.699-13T>A
NM_170707.3:c.811-13T>A
NM_001257374.1:c.475-13T>A
59/6826 0.00432 4 polypyrimidine_tract 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
105/8004 0.00662 4 Likely Benign
View 1 158587368 158587368 T > C SPTA1 NM_003126.2:c.6559A>G
NP_003117.2:p.Lys2187Glu
35/6213 0.00282 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
48/6213 0.00386 4 Likely Benign
View 1 160093165 160093165 G > A ATP1A2 NM_000702.3:c.340G>A
NP_000693.1:p.Gly114Ser
9/6213 0.00072 4 non_synonymous Likely Benign
View 1 160249362 160249362 A > G PEX19 PEX19 PEX19 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
NP_002848.1:p.Gly293=
69/6214 0.00563 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 160249857 160249857 T > C PEX19 PEX19 PEX19 PEX19 NR_036492.1:n.688+3A>G
NR_036493.1:n.712+3A>G
NM_001193644.1:c.771+3A>G
NM_002857.3:c.771+3A>G
61/6213 0.00491 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
49/6213 0.0041 4 Likely Benign
View 1 161309335 161309336 - > T SDHC SDHC SDHC SDHC SDHC SDHC NM_001035513.1:c.21-1038dupT
NM_001278172.1:c.78-1038dupT
NM_001035512.1:c.78-1038dupT
NM_001035511.1:c.180-1038dupT
NR_103459.1:n.210-6dupT
NM_003001.3:c.180-1038dupT
28/6174 0.00235 4 three_prime_flank Likely Benign
View 1 162740180 162740180 C > T DDR2 DDR2 NM_006182.2:c.1382C>T
NM_001014796.1:c.1382C>T
NP_006173.2:p.Ser461Leu
NP_001014796.1:p.Ser461Leu
14/6213 0.00113 4 non_synonymous Likely Benign
View 1 171605387 171605387 T > C MYOC NM_000261.1:c.1193A>G
NP_000252.1:p.Lys398Arg
79/6213 0.00644 4 Likely Benign
View 1 173823011 173823011 C > A DARS2 NM_018122.4:c.1642C>A
NP_060592.2:p.Leu548Met
33/6213 0.00266 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
30/6174 0.00243 4 Likely Benign
View 1 197059382 197059382 T > C ASPM ASPM NM_018136.4:c.9773A>G
NM_001206846.1:c.5018A>G
NP_060606.3:p.His3258Arg
NP_001193775.1:p.His1673Arg
15/6213 0.00121 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 197070594 197070594 A > G ASPM ASPM NM_018136.4:c.7787T>C
NM_001206846.1:c.4066-5300T>C
NP_060606.3:p.Val2596Ala
40/6213 0.00322 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 197071654 197071654 C > A ASPM ASPM NM_018136.4:c.6727G>T
NM_001206846.1:c.4066-6360G>T
NP_060606.3:p.Val2243Leu
22/6213 0.00177 4 non_synonymous Likely Benign
View 1 197072640 197072640 T > C ASPM ASPM NM_018136.4:c.5741A>G
NM_001206846.1:c.4066-7346A>G
NP_060606.3:p.Gln1914Arg
13/6213 0.00105 4 non_synonymous Likely Benign
View 1 197074168 197074168 G > A ASPM ASPM NM_018136.4:c.4213C>T
NM_001206846.1:c.4066-8874C>T
NP_060606.3:p.Arg1405Cys
61/6213 0.00499 4 non_synonymous Likely Benign
View 1 197115345 197115345 C > T ASPM ASPM NM_018136.4:c.223G>A
NM_001206846.1:c.223G>A
NP_060606.3:p.Ala75Thr
NP_001193775.1:p.Ala75Thr
39/6213 0.00314 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
67/6213 0.00539 4 non_synonymous Likely Benign
View 1 201046058 201046058 C > T CACNA1S NM_000069.2:c.1817G>A
NP_000060.2:p.Ser606Asn
103/6402 0.00804 4 Likely Benign
Displaying 100 through 150 of 2,310 variants