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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 1728557 1728557 C > G CLN8 NM_018941.3:c.685C>G
NP_061764.2:p.Pro229Ala
113/8004 0.00737 5 Benign
View 8 11614584 11614584 G > A GATA4 NM_002052.3:c.1138G>A
NP_002043.2:p.Val380Met
41/6213 0.00338 5 Benign
View 8 11615928 11615928 G > A GATA4 NM_002052.3:c.1273G>A
NP_002043.2:p.Asp425Asn
10/6213 0.0008 5 Benign
View 8 17915126 17915126 C > T ASAH1 ASAH1 ASAH1 NM_001127505.1:c.1087G>A
NM_177924.3:c.1105G>A
NM_004315.4:c.1153G>A
NP_001120977.1:p.Val363Ile
NP_808592.2:p.Val369Ile
NP_004306.3:p.Val385Ile
64/6213 0.00531 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 8 27634589 27634589 T > C ESCO2 NM_001017420.2:c.764T>C
NP_001017420.1:p.Phe255Ser
56/8004 0.0035 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 8 30567424 30567424 A > T GSR GSR GSR GSR NM_001195104.1:c.334-5T>A
NM_000637.3:c.334-5T>A
NM_001195102.1:c.334-5T>A
NM_001195103.1:c.334-5T>A
26/6213 0.00217 3 polypyrimidine_tract Benign
View 8 31030535 31030535 C > T WRN NM_000553.4:c.4216C>T
NP_000544.2:p.Arg1406Ter
26/6213 0.00209 5 Benign
View 8 38271301 38271301 G > A FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 NM_001174063.1:c.2308C>T
NM_023110.2:c.2314C>T
NM_023105.2:c.2047C>T
NM_001174067.1:c.2407C>T
NM_001174064.1:c.2284C>T
NM_001174065.1:c.2308C>T
NM_023106.2:c.2041C>T
NM_015850.3:c.2308C>T
NM_001174066.1:c.2047C>T
NP_001167534.1:p.Pro770Ser
NP_075598.2:p.Pro772Ser
NP_075593.1:p.Pro683Ser
NP_001167538.1:p.Pro803Ser
NP_001167535.1:p.Pro762Ser
NP_001167536.1:p.Pro770Ser
NP_075594.1:p.Pro681Ser
NP_056934.2:p.Pro770Ser
NP_001167537.1:p.Pro683Ser
50/6213 0.00402 5 Benign
View 8 38271547 38271547 G > A FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 NM_001174063.1:c.2181-6C>T
NM_023110.2:c.2187-6C>T
NM_023105.2:c.1920-6C>T
NM_001174067.1:c.2280-6C>T
NM_001174064.1:c.2157-6C>T
NM_001174065.1:c.2181-6C>T
NM_023106.2:c.1914-6C>T
NM_015850.3:c.2181-6C>T
NM_001174066.1:c.1920-6C>T
187/6214 0.01561 5 Benign
View 8 48695175 48695175 T > C PRKDC PRKDC ENST00000314191.2:c.11173-16A>G
ENST00000338368.3:c.11173-16A>G
4/6174 0.00032 5 three_prime_flank Benign
View 8 48842425 48842425 T > C PRKDC PRKDC ENST00000314191.2:c.2040A>G
ENST00000338368.3:c.2040A>G
ENSP00000313420.2:p.Ile680Met
ENSP00000345182.3:p.Ile680Met
25/6213 0.00209 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 8 61693942 61693943 - > AAAGCA CHD7 NM_017780.3:c.2053_2058dupGCAAAA
NP_060250.2:p.Ala685_Lys686dup
118/6213 0.0095 5 Benign
View 8 61778448 61778448 C > T CHD7 NM_017780.3:c.8950C>T
NP_060250.2:p.Leu2984Phe
30/6213 0.00241 5 non_synonymous Benign
View 8 90982691 90982691 G > A NBN NM_002485.4:c.797C>T
NP_002476.2:p.Pro266Leu
29/8004 0.00187 1 Benign
View 8 100182333 100182333 G > C VPS13B VPS13B VPS13B NM_017890.4:c.2275G>C
NM_152564.4:c.2275G>C
NM_015243.2:c.2275G>C
NP_060360.3:p.Val759Leu
NP_689777.3:p.Val759Leu
NP_056058.2:p.Val759Leu
95/8004 0.006 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 8 100520087 100520087 G > A VPS13B VPS13B NM_017890.4:c.4247G>A
NM_152564.4:c.4224+656G>A
NP_060360.3:p.Arg1416Gln
45/8004 0.003 5 changed to 5 non_synonymous Benign
View 8 100654319 100654319 C > T VPS13B VPS13B NM_017890.4:c.5576C>T
NM_152564.4:c.5501C>T
NP_060360.3:p.Ser1859Leu
NP_689777.3:p.Ser1834Leu
67/8004 0.00444 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 8 106814597 106814597 G > A ZFPM2 NM_012082.3:c.2287G>A
NP_036214.2:p.Val763Ile
54/6213 0.00443 5 non_synonymous Benign
View 8 133150129 133150129 C > T KCNQ3 KCNQ3 NM_001204824.1:c.1340+3G>A
NM_004519.3:c.1700+3G>A
40/6213 0.00322 5 five_prime_flank Benign
View 8 133152311 133152311 T > C KCNQ3 KCNQ3 NM_001204824.1:c.1208+12A>G
NM_004519.3:c.1568+12A>G
4/6174 0.00032 3 five_prime_intronic Benign
View 8 141294140 141294140 T > G TRAPPC9 TRAPPC9 NM_031466.5:c.2276-20A>C
NM_001160372.1:c.1982-20A>C
77/7965 0.00483 5 three_prime_flank Benign
View 8 144998620 144998620 C > T PLEC PLEC PLEC PLEC PLEC PLEC PLEC PLEC NM_201381.1:c.5381G>A
NM_000445.3:c.5558G>A
NM_201378.2:c.5435G>A
NM_201380.2:c.5888G>A
NM_201384.1:c.5477G>A
NM_201383.1:c.5489G>A
NM_201382.2:c.5477G>A
NM_201379.1:c.5411G>A
NP_958783.1:p.Arg1794Gln
NP_000436.2:p.Arg1853Gln
NP_958780.1:p.Arg1812Gln
NP_958782.1:p.Arg1963Gln
NP_958786.1:p.Arg1826Gln
NP_958785.1:p.Arg1830Gln
NP_958784.1:p.Arg1826Gln
NP_958781.1:p.Arg1804Gln
104/8004 0.00681 5 non_synonymous Benign
View 8 145738411 145738416 GGTGCA > - RECQL4 ENST00000428558.2:c.2569_2574del
ENSP00000475456.1:p.Cys857_Thr858del
50/6213 0.00402 5 in_frame_indel Benign
View 8 145738585 145738585 G > T RECQL4 ENST00000428558.2:c.2463+16C>A
70/6175 0.00567 5 five_prime_intronic Benign
View 8 145740376 145740376 G > A RECQL4 ENST00000428558.2:c.1564C>T
ENSP00000475456.1:p.Arg522Cys
106/6213 0.00917 5 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
100/8004 0.0065 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous 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
96/8004 0.00612 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 9 32974570 32974571 - > AA APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX NM_001195250.1:c.651-13_651-12dupTT
NM_001195254.1:c.609-13_609-12dupTT
NM_001195251.1:c.771-13_771-12dupTT
NR_036579.1:n.1014-13_1014-12dupTT
NR_036576.1:n.845-13_845-12dupTT
NM_001195252.1:c.597-13_597-12dupTT
NM_175069.2:c.813-13_813-12dupTT
NM_001195249.1:c.771-13_771-12dupTT
NR_036577.1:n.735-13_735-12dupTT
NM_175073.2:c.771-13_771-12dupTT
NM_001195248.1:c.813-13_813-12dupTT
NR_036578.1:n.867-13_867-12dupTT
179/7966 0.01124 3 polypyrimidine_tract Benign
View 9 34648418 34648418 C > T GALT GALT NM_000155.3:c.652C>T
NM_001258332.1:c.325C>T
NP_000146.2:p.Leu218=
NP_001245261.1:p.Leu109=
466/8004 0.02974 4 Benign
View 9 35076755 35076755 G > A FANCG NM_004629.1:c.890C>T
NP_004620.1:p.Thr297Ile
99/6213 0.00805 5 Benign
View 9 35740222 35740222 C > T GBA2 NM_020944.2:c.1267G>A
NP_065995.1:p.Gly423Ser
61/6213 0.00499 5 non_synonymous Benign
View 9 94493330 94493330 G > C ROR2 NM_004560.3:c.1045C>G
NP_004551.2:p.His349Asp
82/6213 0.00676 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 9 107620835 107620835 G > A ABCA1 NM_005502.3:c.688C>T
NP_005493.2:p.Arg230Cys
73/6402 0.00586 5 Benign
View 9 135779052 135779052 G > A TSC1 TSC1 TSC1 NM_001162427.1:c.2041C>T
NM_001162426.1:c.2191C>T
NM_000368.4:c.2194C>T
NP_001155899.1:p.His681Tyr
NP_001155898.1:p.His731Tyr
NP_000359.1:p.His732Tyr
29/6213 0.00241 5 ClinVar pathogenic variant Benign
View 9 135781205 135781205 T > C TSC1 TSC1 TSC1 NM_001162427.1:c.1607A>G
NM_001162426.1:c.1757A>G
NM_000368.4:c.1760A>G
NP_001155899.1:p.Lys536Arg
NP_001155898.1:p.Lys586Arg
NP_000359.1:p.Lys587Arg
152/6213 0.01304 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 9 136219295 136219295 A > G SURF1 SURF1 NM_003172.3:c.751+6T>C
NM_001280787.1:c.424+6T>C
112/8004 0.00706 5 Benign
View 9 136221752 136221752 G > C SURF1 SURF1 NM_003172.3:c.167C>G
NM_001280787.1:c.-161C>G
NP_003163.1:p.Ala56Gly
107/8004 0.00675 5 Benign
View 9 136320444 136320444 G > A ADAMTS13 ADAMTS13 ADAMTS13 ENST00000371929.3:c.3287G>A
NR_024514.2:n.2122G>A
ENST00000356589.2:c.3194G>A
ENSP00000360997.3:p.Arg1096His
ENSP00000348997.2:p.Arg1065His
146/8004 0.00956 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 9 139399320 139399320 C > T NOTCH1 NM_017617.3:c.4823G>A
NP_060087.3:p.Arg1608His
58/6213 0.00467 5 Benign
View 9 139401302 139401302 G > A NOTCH1 NM_017617.3:c.3767C>T
NP_060087.3:p.Pro1256Leu
15/6213 0.00121 5 Benign
View 9 139410452 139410452 G > A NOTCH1 NM_017617.3:c.1650C>T
NP_060087.3:p.Tyr550=
2/6213 0.00016 5 Benign
View 9 140611518 140611518 C > T EHMT1 EHMT1 NM_024757.4:c.526C>T
NM_001145527.1:c.526C>T
NP_079033.4:p.Pro176Ser
NP_001138999.1:p.Pro176Ser
32/6213 0.00258 5 non_synonymous Benign
View MT 1462 1462 G > A MT-RNR1 ENST00000389680.2:n.815G>A
20/7965 0.00251 5 mitochondrial_gene_context Benign
View MT 3447 3447 A > G MT-ND1 ENST00000361390.2:c.141A>G
ENSP00000354687.2:p.Gln47=
71/7965 0.00873 3 mitochondrial_gene_context Benign
View MT 3516 3516 C > A MT-ND1 ENST00000361390.2:c.210C>A
ENSP00000354687.2:p.Leu70=
34/7965 0.00421 5 mitochondrial_gene_context Benign
View MT 3990 3990 C > T MT-ND1 ENST00000361390.2:c.684C>T
ENSP00000354687.2:p.Tyr228=
36/7965 0.00439 3 mitochondrial_gene_context Benign
View MT 4312 4312 C > T MT-TI ENST00000387365.1:n.50C>T
27/7965 0.00339 5 mitochondrial_gene_context Benign
View MT 5302 5302 T > C MT-ND2 ENST00000361453.3:c.833T>C
ENSP00000355046.4:p.Ile278Thr
9/7965 0.00107 5 mitochondrial_gene_context Benign
View MT 5465 5465 T > C MT-ND2 ENST00000361453.3:c.996T>C
ENSP00000355046.4:p.Leu332=
22/7965 0.0027 5 mitochondrial_gene_context Benign
View MT 6734 6734 G > A MT-CO1 ENST00000361624.2:c.831G>A
ENSP00000354499.2:p.Met277=
53/7965 0.00634 3 mitochondrial_gene_context Benign
Displaying 550 through 600 of 706 variants