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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 8 145738585 145738585 G > T RECQL4 ENST00000428558.2:c.2463+16C>A
173/11960 0.00727 5 curation Benign
View 8 145739679 145739679 G > A RECQL4 ENST00000428558.2:c.1772C>T
ENSP00000475456.1:p.Pro591Leu
208/13144 0.00825 5 curation Benign
View 8 145740376 145740376 G > A RECQL4 ENST00000428558.2:c.1564C>T
ENSP00000475456.1:p.Arg522Cys
249/13144 0.01008 5 curation Benign
View 9 328079 328079 G > A DOCK8 DOCK8 DOCK8 ENST00000453981.1:c.952G>A
ENST00000469391.1:c.748G>A
ENST00000432829.2:c.748G>A
ENSP00000408464.1:p.Ala318Thr
ENSP00000419438.1:p.Ala250Thr
ENSP00000394888.2:p.Ala250Thr
198/14969 0.00685 5 curation Benign
View 9 414816 414816 A > G DOCK8 DOCK8 DOCK8 ENST00000453981.1:c.3565A>G
ENST00000469391.1:c.3265A>G
ENST00000432829.2:c.3361A>G
ENSP00000408464.1:p.Ile1189Val
ENSP00000419438.1:p.Ile1089Val
ENSP00000394888.2:p.Ile1121Val
195/14969 0.00665 5 curation Benign
View 9 740885 740885 T > C KANK1 KANK1 KANK1 ENST00000382303.1:c.3647T>C
ENST00000382297.2:c.3647T>C
ENST00000382293.3:c.3173T>C
ENSP00000371740.1:p.Ile1216Thr
ENSP00000371734.2:p.Ile1216Thr
ENSP00000371730.3:p.Ile1058Thr
35/13144 0.00133 5 curation Benign
View 9 12709125 12709125 T > G TYRP1 NM_000550.2:c.1557T>G
NP_000541.1:p.Tyr519Ter
116/13144 0.00441 5 Benign
View 9 32974570 32974571 - > AA APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX NM_001195249.1:c.771-13_771-12dupTT
NM_175069.2:c.813-13_813-12dupTT
NM_001195248.1:c.813-13_813-12dupTT
NR_036576.1:n.845-13_845-12dupTT
NM_001195254.1:c.609-13_609-12dupTT
NR_036579.1:n.1014-13_1014-12dupTT
NM_001195252.1:c.597-13_597-12dupTT
NM_001195251.1:c.771-13_771-12dupTT
NR_036577.1:n.735-13_735-12dupTT
NM_001195250.1:c.651-13_651-12dupTT
NM_175073.2:c.771-13_771-12dupTT
NR_036578.1:n.867-13_867-12dupTT
205/13772 0.00748 3 polypyrimidine_tract Benign
View 9 34648418 34648418 C > T GALT GALT NM_001258332.1:c.325C>T
NM_000155.3:c.652C>T
NP_001245261.1:p.Leu109=
NP_000146.2:p.Leu218=
826/14969 0.02826 4 curation Benign
View 9 35076755 35076755 G > A FANCG NM_004629.1:c.890C>T
NP_004620.1:p.Thr297Ile
291/13144 0.01137 5 curation Benign
View 9 35740222 35740222 C > T GBA2 NM_020944.2:c.1267G>A
NP_065995.1:p.Gly423Ser
122/13144 0.00476 5 curation Benign
View 9 87325623 87325623 C > A NTRK2 NTRK2 NTRK2 NTRK2 NTRK2 NM_001018066.2:c.500C>A
NM_001018065.2:c.500C>A
NM_001018064.1:c.500C>A
NM_006180.3:c.500C>A
NM_001007097.1:c.500C>A
NP_001018076.1:p.Ser167Tyr
NP_001018075.1:p.Ser167Tyr
NP_001018074.1:p.Ser167Tyr
NP_006171.2:p.Ser167Tyr
NP_001007098.1:p.Ser167Tyr
35/13333 0.00131 5 curation Benign
View 9 88292332 88292332 T > A AGTPBP1 NM_015239.2:c.436+19A>T
64/11950 0.00268 5 curation Benign
View 9 94493330 94493330 G > C ROR2 NM_004560.3:c.1045C>G
NP_004551.2:p.His349Asp
183/13144 0.00715 5 curation Benign
View 9 97869536 97869536 C > T FANCC FANCC NM_001243743.1:c.1345G>A
NM_000136.2:c.1345G>A
NP_001230672.1:p.Val449Met
NP_000127.2:p.Val449Met
208/14969 0.00725 5 curation Benign
View 9 98240378 98240378 C > T PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 NM_001083605.1:c.853G>A
NM_001083606.1:c.853G>A
NM_001083607.1:c.853G>A
NM_000264.3:c.1306G>A
NM_001083602.1:c.1108G>A
NM_001083603.1:c.1303G>A
NM_001083604.1:c.853G>A
NP_001077074.1:p.Asp285Asn
NP_001077075.1:p.Asp285Asn
NP_001077076.1:p.Asp285Asn
NP_000255.2:p.Asp436Asn
NP_001077071.1:p.Asp370Asn
NP_001077072.1:p.Asp435Asn
NP_001077073.1:p.Asp285Asn
24/13144 0.00091 5 curation Benign
View 9 107620835 107620835 G > A ABCA1 NM_005502.3:c.688C>T
NP_005493.2:p.Arg230Cys
193/13333 0.0075 5 curation Benign
View 9 113449510 113449510 G > A MUSK MUSK MUSK NM_005592.3:c.320G>A
NM_001166281.1:c.320G>A
NM_001166280.1:c.320G>A
NP_005583.1:p.Gly107Glu
NP_001159753.1:p.Gly107Glu
NP_001159752.1:p.Gly107Glu
84/13144 0.00323 5 non_synonymous Benign
View 9 130444685 130444685 C > T STXBP1 STXBP1 NM_001032221.3:c.1548C>T
NM_003165.3:c.1548C>T
NP_001027392.1:p.Ser516=
NP_003156.1:p.Ser516=
50/13144 0.0019 5 three_prime_exonic Benign
View 9 131010845 131010845 T > C DNM1 DNM1 NM_004408.2:c.1906-17T>C
NM_001005336.1:c.1906-17T>C
14/11944 0.00059 5 curation Benign
View 9 131339615 131339615 C > T SPTAN1 SPTAN1 SPTAN1 ENST00000372731.4:c.931-16C>T
ENST00000358161.5:c.931-16C>T
ENST00000372739.3:c.931-16C>T
82/11949 0.00351 5 curation Benign
View 9 131367308 131367308 T > G SPTAN1 SPTAN1 SPTAN1 ENST00000372731.4:c.3720-5T>G
ENST00000358161.5:c.3720-5T>G
ENST00000372739.3:c.3720-5T>G
58/11987 0.00242 5 curation Benign
View 9 131395473 131395474 TC > - SPTAN1 SPTAN1 SPTAN1 ENST00000372731.4:c.7294-12_7294-11del
ENST00000358161.5:c.7309-12_7309-11del
ENST00000372739.3:c.7309-12_7309-11del
7/11944 0.00033 5 curation Benign
View 9 133333936 133333936 G > T ASS1 ASS1 NM_054012.3:c.323G>T
NM_000050.4:c.323G>T
NP_446464.1:p.Arg108Leu
NP_000041.2:p.Arg108Leu
89/14969 0.00307 5 curation Benign
View 9 135205028 135205028 G > T SETX NM_015046.5:c.1957C>A
NP_055861.3:p.Gln653Lys
61/13144 0.00232 5 Benign
View 9 135772014 135772014 C > T TSC1 TSC1 TSC1 NM_000368.4:c.3103G>A
NM_001162426.1:c.3100G>A
NM_001162427.1:c.2950G>A
NP_000359.1:p.Gly1035Ser
NP_001155898.1:p.Gly1034Ser
NP_001155899.1:p.Gly984Ser
50/13145 0.00194 5 curation Benign
View 9 135773000 135773001 - > AAA TSC1 TSC1 TSC1 NM_000368.4:c.2626-6_2626-4dupTTT
NM_001162426.1:c.2623-6_2623-4dupTTT
NM_001162427.1:c.2473-6_2473-4dupTTT
130/11994 0.00567 5 polypyrimidine_tract Benign
View 9 135773001 135773002 - > AAA TSC1 TSC1 TSC1 NM_000368.4:c.2626-6_2626-4dupTTT
NM_001162426.1:c.2623-6_2623-4dupTTT
NM_001162427.1:c.2473-6_2473-4dupTTT
43/11989 0.00184 5 curation Benign
View 9 135773001 135773002 - > A TSC1 TSC1 TSC1 NM_000368.4:c.2626-4dupT
NM_001162426.1:c.2623-4dupT
NM_001162427.1:c.2473-4dupT
167/12014 0.00716 5 curation Benign
View 9 135773004 135773004 A > - TSC1 TSC1 TSC1 NM_000368.4:c.2626-4del
NM_001162426.1:c.2623-4del
NM_001162427.1:c.2473-4del
56/11995 0.00233 5 curation Benign
View 9 135773004 135773005 - > AA TSC1 TSC1 TSC1 NM_000368.4:c.2626-5_2626-4dupTT
NM_001162426.1:c.2623-5_2623-4dupTT
NM_001162427.1:c.2473-5_2473-4dupTT
61/11997 0.00254 5 curation Benign
View 9 135779052 135779052 G > A TSC1 TSC1 TSC1 NM_000368.4:c.2194C>T
NM_001162426.1:c.2191C>T
NM_001162427.1:c.2041C>T
NP_000359.1:p.His732Tyr
NP_001155898.1:p.His731Tyr
NP_001155899.1:p.His681Tyr
73/13144 0.00281 5 curation Benign
View 9 135781205 135781205 T > C TSC1 TSC1 TSC1 NM_000368.4:c.1760A>G
NM_001162426.1:c.1757A>G
NM_001162427.1:c.1607A>G
NP_000359.1:p.Lys587Arg
NP_001155898.1:p.Lys586Arg
NP_001155899.1:p.Lys536Arg
359/13144 0.01472 5 curation Benign
View 9 135782675 135782675 G > A TSC1 TSC1 TSC1 NM_000368.4:c.1333+13C>T
NM_001162426.1:c.1330+13C>T
NM_001162427.1:c.1180+13C>T
5/11944 0.00021 5 curation Benign
View 9 135944128 135944128 A > G CEL NM_001807.4:c.974A>G
NP_001798.2:p.Asn325Ser
73/13144 0.00278 5 non_synonymous Benign
View 9 136219295 136219295 A > G SURF1 SURF1 NM_001280787.1:c.424+6T>C
NM_003172.3:c.751+6T>C
206/13827 0.00749 5 curation Benign
View 9 136219448 136219448 C > G SURF1 SURF1 NM_001280787.1:c.277G>C
NM_003172.3:c.604G>C
NP_001267716.1:p.Asp93His
NP_003163.1:p.Asp202His
190/14969 0.00655 5 Benign
View 9 136221752 136221752 G > C SURF1 SURF1 NM_001280787.1:c.-161C>G
NM_003172.3:c.167C>G
NP_003163.1:p.Ala56Gly
196/14969 0.00658 5 curation Benign
View 9 136223254 136223267 GCACCCCGCACCCG > - SURF1 SURF1 NM_001280787.1:c.-222+9_-222+22del
NM_003172.3:c.54+9_54+22del
81/13818 0.00311 5 curation Benign
View 9 136320444 136320444 G > A ADAMTS13 ADAMTS13 ADAMTS13 NR_024514.2:n.2122G>A
ENST00000371929.3:c.3287G>A
ENST00000356589.2:c.3194G>A
ENSP00000360997.3:p.Arg1096His
ENSP00000348997.2:p.Arg1065His
321/14969 0.01122 5 curation Benign
View 9 137726806 137726806 T > C COL5A1 COL5A1 NM_000093.4:c.5137-11T>C
NM_001278074.1:c.5137-11T>C
34/11944 0.00142 5 Benign
View 9 139399320 139399320 C > T NOTCH1 NM_017617.3:c.4823G>A
NP_060087.3:p.Arg1608His
154/13144 0.00586 5 curation Benign
View 9 139401302 139401302 G > A NOTCH1 NM_017617.3:c.3767C>T
NP_060087.3:p.Pro1256Leu
34/13144 0.00129 5 curation Benign
View 9 139410452 139410452 G > A NOTCH1 NM_017617.3:c.1650C>T
NP_060087.3:p.Tyr550=
5/13144 0.00019 5 curation Benign
View 9 139565482 139565484 GGG > - EGFL7 EGFL7 EGFL7 EGFL7 EGFL7 NM_201446.2:c.636+26_636+28del
NR_046367.1:n.1547+26_1547+28del
NM_016215.4:c.636+26_636+28del
NR_045110.1:n.951+26_951+28del
NR_045111.1:n.954+26_954+28del
94/11967 0.00405 5 curation Benign
View 9 139910402 139910402 C > T ABCA2 ENST00000341511.6:c.3317+12G>A
93/11961 0.00401 5 five_prime_intronic Benign
View 9 140611518 140611518 C > T EHMT1 EHMT1 NM_001145527.1:c.526C>T
NM_024757.4:c.526C>T
NP_001138999.1:p.Pro176Ser
NP_079033.4:p.Pro176Ser
71/13144 0.00274 5 curation Benign
View MT 1406 1406 T > C MT-RNR1 ENST00000389680.2:n.759T>C
64/13775 0.00381 5 curation Benign
View MT 1462 1462 G > A MT-RNR1 ENST00000389680.2:n.815G>A
46/13777 0.00265 5 curation Benign
View MT 3447 3447 A > G MT-ND1 ENST00000361390.2:c.141A>G
ENSP00000354687.2:p.Gln47=
160/13791 0.00899 3 mitochondrial_gene_context Benign
Displaying 1,000 through 1,050 of 1,342 variants