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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 9 94124152 94124152 G > A AUH NM_001698.2:c.20C>T
NP_001689.1:p.Ala7Val
2/6913 0.00014 3 non_synonymous Uncertain Significance
View 9 97873918 97873918 A > G FANCC NM_000136.2:c.1156T>C
NM_001243744.1:c.1156T>C
NM_001243743.1:c.1156T>C
NP_000127.2:p.Ser386Pro
NP_001230673.1:p.Ser386Pro
NP_001230672.1:p.Ser386Pro
11/6913 0.0008 3 non_synonymous Uncertain Significance
View 9 98231294 98231294 C > G PTCH1 LOC100507346 NM_001083604.1:c.1536G>C
NM_000264.3:c.1989G>C
NM_001083603.1:c.1986G>C
NM_001083607.1:c.1536G>C
NR_038982.1:n.950C>G
NM_001083606.1:c.1536G>C
NM_001083602.1:c.1791G>C
NM_001083605.1:c.1536G>C
NP_001077073.1:p.Gln512His
NP_000255.2:p.Gln663His
NP_001077072.1:p.Gln662His
NP_001077076.1:p.Gln512His
NP_001077075.1:p.Gln512His
NP_001077071.1:p.Gln597His
NP_001077074.1:p.Gln512His
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 9 98270531 98270531 C > A PTCH1 NM_000264.3:c.113G>T
NM_001083603.1:c.199-1650G>T
NM_001083602.1:c.4-1650G>T
NP_000255.2:p.Gly38Val
8/5119 0.00078 3 non_synonymous Uncertain Significance
View 9 117240930 117240930 G > C WHRN NM_001173425.1:c.740C>G
ENST00000362057.3:c.740C>G
ENST00000265134.6:c.-410C>G
NP_001166896.1:p.Pro247Arg
ENSP00000354623.3:p.Pro247Arg
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 9 117826128 117826128 C > T TNC NM_002160.3:c.3707G>A
NP_002151.2:p.Arg1236His
3/5119 0.00029 3 non_synonymous Uncertain Significance
View 9 123301377 123301377 C > T CDK5RAP2 NR_073557.1:n.641G>A
NR_073558.1:n.638G>A
NM_001011649.2:c.449G>A
NR_073555.1:n.641G>A
NM_001272039.1:c.449G>A
NR_073554.1:n.641G>A
NM_018249.5:c.449G>A
NR_073556.1:n.638G>A
NP_001011649.1:p.Arg150Gln
NP_001258968.1:p.Arg150Gln
NP_060719.4:p.Arg150Gln
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 9 130980983 130980983 A > G DNM1 NM_004408.2:c.358A>G
NM_001005336.1:c.358A>G
NP_004399.2:p.Ile120Val
NP_001005336.1:p.Ile120Val
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 9 131394939 131394939 G > C SPTAN1 ENST00000372739.3:c.7102G>C
ENST00000358161.5:c.7102G>C
ENST00000372731.4:c.7087G>C
ENSP00000361824.3:p.Glu2368Gln
ENSP00000350882.5:p.Glu2368Gln
ENSP00000361816.4:p.Glu2363Gln
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 9 131708145 131708145 T > C DOLK NM_014908.3:c.1438A>G
NP_055723.1:p.Ile480Val
4/6913 0.00029 3 non_synonymous Uncertain Significance
View 9 133884639 133884640 - > GGCACCGCG LAMC3 NM_006059.3:c.42_50dupACCGCGGGC
NP_006050.3:p.Pro15_Ala17dup
3/5119 0.00029 3 in_frame_indel Uncertain Significance
View 9 133884837 133884837 C > T LAMC3 NM_006059.3:c.236C>T
NP_006050.3:p.Ala79Val
4/5119 0.00039 3 non_synonymous Uncertain Significance
View 9 133943615 133943615 G > A LAMC3 NM_006059.3:c.2744G>A
NP_006050.3:p.Arg915Gln
3/5119 0.00029 3 non_synonymous Uncertain Significance
View 9 133954563 133954563 G > A LAMC3 NM_006059.3:c.3805G>A
NP_006050.3:p.Gly1269Ser
6/5119 0.00059 3 non_synonymous Uncertain Significance
View 9 133962980 133962980 C > T LAMC3 NM_006059.3:c.4348C>T
NP_006050.3:p.Arg1450Cys
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 9 134394788 134394788 G > A POMT1 ENST00000404875.2:c.1148G>A
ENST00000341012.7:c.1337G>A
ENST00000372228.3:c.1565G>A
ENST00000423007.1:c.1499G>A
ENST00000402686.3:c.1499G>A
ENSP00000384531.2:p.Arg383Lys
ENSP00000343034.7:p.Arg446Lys
ENSP00000361302.3:p.Arg522Lys
ENSP00000404119.1:p.Arg500Lys
ENSP00000385797.3:p.Arg500Lys
39/6913 0.00282 3 non_synonymous Uncertain Significance
View 9 135781376 135781376 C > G TSC1 NM_001162426.1:c.1586G>C
NM_001162427.1:c.1436G>C
NM_000368.4:c.1589G>C
NP_001155898.1:p.Ser529Thr
NP_001155899.1:p.Ser479Thr
NP_000359.1:p.Ser530Thr
1/5119 0.0001 3 non_synonymous Uncertain Significance
View 9 136220769 136220769 T > G SURF1 NM_003172.3:c.350A>C
NM_001280787.1:c.23A>C
NP_003163.1:p.Tyr117Ser
NP_001267716.1:p.Tyr8Ser
7/6913 0.00051 3 non_synonymous Uncertain Significance
View 9 136512962 136512962 T > A DBH NM_000787.3:c.1025-6T>A
10/5119 0.00098 3 polypyrimidine_tract Uncertain Significance
View 9 136516762 136516762 C > T DBH NM_000787.3:c.1198C>T
NP_000778.3:p.Pro400Ser
1/5308 9.0e-05 3 non_synonymous Uncertain Significance
View 9 138646997 138646997 G > A KCNT1 NM_020822.2:c.522G>A
NM_001272003.1:c.378G>A
NP_065873.2:p.Met174Ile
NP_001258932.1:p.Met126Ile
7/5119 0.00068 3 non_synonymous Uncertain Significance
View 9 138648787 138648787 C > T KCNT1 NM_020822.2:c.600+9C>T
NM_001272003.1:c.456+9C>T
2/5119 0.0002 3 five_prime_intronic Uncertain Significance
View 9 138676637 138676637 C > T KCNT1 NM_020822.2:c.3058C>T
NM_001272003.1:c.2923C>T
NP_065873.2:p.Arg1020Cys
NP_001258932.1:p.Arg975Cys
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 9 139326259 139326259 C > T INPP5E NM_019892.4:c.1549+17G>A
2/5101 0.0002 3 five_prime_intronic Uncertain Significance
View 9 139333593 139333593 C > A INPP5E NM_019892.4:c.279G>T
NP_063945.2:p.Arg93Ser
2/5119 0.0002 3 non_synonymous Uncertain Significance
View 9 140093903 140093903 G > A TPRN NM_001128228.2:c.1261C>T
NP_001121700.2:p.Pro421Ser
36/5119 0.00352 3 non_synonymous Uncertain Significance
View 9 141014823 141014823 C > T CACNA1B NM_001243812.1:c.6237C>T
NM_000718.3:c.6237C>T
NM_001243812.1:c.6237C>T(p.%3D)
NM_000718.3:c.6237C>T(p.%3D)
2/5119 0.0002 3 five_prime_exonic Uncertain Significance
View MT 1836 1836 A > G MT-RNR2 20/6895 0.00276 3 mitochondrial_gene_context Uncertain Significance
View MT 2483 2483 T > C MT-RNR2 12/6895 0.00174 3 mitochondrial_gene_context Uncertain Significance
View MT 3169 3169 C > T MT-RNR2 1/6895 0.00015 3 mitochondrial_gene_context Uncertain Significance
View MT 3582 3582 C > T MT-ND1 3/6895 0.00044 3 mitochondrial_gene_context Uncertain Significance
View MT 4132 4132 G > A MT-ND1 1/6895 0.00015 3 mitochondrial_gene_context Uncertain Significance
View MT 4295 4295 A > G MT-TI 25/6895 0.00355 3 ClinVar pathogenic variant Uncertain Significance
View MT 4336 4336 T > C MT-TQ 97/6896 0.01385 1 ClinVar pathogenic variant Uncertain Significance
View MT 4388 4388 A > G MT-TQ 5/6895 0.00073 3 mitochondrial_gene_context Uncertain Significance
View MT 4472 4472 T > C MT-ND2 1/6895 7.0e-05 3 mitochondrial_gene_context Uncertain Significance
View MT 4768 4768 T > C MT-ND2 1/6895 7.0e-05 3 mitochondrial_gene_context Uncertain Significance
View MT 5105 5105 T > C MT-ND2 8/6895 0.00116 3 mitochondrial_gene_context Uncertain Significance
View MT 6120 6120 A > G MT-CO1 3/6895 0.00029 3 mitochondrial_gene_context Uncertain Significance
View MT 6299 6299 A > G MT-CO1 7/6895 0.00102 3 mitochondrial_gene_context Uncertain Significance
View MT 6554 6554 C > T MT-CO1 14/6895 0.00196 3 mitochondrial_gene_context Uncertain Significance
View MT 8047 8047 T > C MT-CO2 4/6895 0.00058 3 mitochondrial_gene_context Uncertain Significance
View MT 8382 8382 C > T MT-ATP8 1/6895 0.00015 3 mitochondrial_gene_context Uncertain Significance
View MT 8538 8538 T > C MT-ATP6 MT-ATP8 5/6895 0.00073 3 mitochondrial_gene_context Uncertain Significance
View MT 8540 8540 T > C MT-ATP6 MT-ATP8 5/6895 0.00065 3 mitochondrial_gene_context Uncertain Significance
View MT 8565 8565 A > G MT-ATP6 MT-ATP8 5/6895 0.00065 3 mitochondrial_gene_context Uncertain Significance
View MT 8704 8704 A > G MT-ATP6 1/6895 0.00015 3 mitochondrial_gene_context Uncertain Significance
View MT 8781 8781 C > A MT-ATP6 3/6895 0.00036 3 mitochondrial_gene_context Uncertain Significance
View MT 8803 8803 A > T MT-ATP6 6/6895 0.00087 3 mitochondrial_gene_context Uncertain Significance
View MT 8816 8816 A > G MT-ATP6 1/6895 7.0e-05 3 mitochondrial_gene_context Uncertain Significance
Displaying 800 through 850 of 896 variants