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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 955596 955596 C > G AGRN NM_198576.3:c.44C>G
NP_940978.2:p.Pro15Arg
12/9594 0.00063 3 non_synonymous Uncertain Significance
View 1 981353 981353 C > T AGRN NM_198576.3:c.2690C>T
NP_940978.2:p.Ala897Val
48/9594 0.0025 3 non_synonymous Uncertain Significance
View 1 1168051 1168051 C > G B3GALT6 NM_080605.3:c.393C>G
NP_542172.2:p.Asn131Lys
2/9594 0.00016 3 non_synonymous Uncertain Significance
View 1 1271833 1271833 G > A DVL1 NM_004421.2:c.1702C>T
NP_004412.2:p.Arg568Trp
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 1 1960633 1960633 G > A GABRD NM_000815.4:c.775G>A
NP_000806.2:p.Val259Ile
7/9594 0.00036 3 non_synonymous Uncertain Significance
View 1 2235762 2235762 C > T SKI NM_003036.3:c.1505C>T
NP_003027.1:p.Pro502Leu
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 2238200 2238201 - > GTAGATTCCGT SKI NM_003036.3:c.2185_*8dupTAGATTCCGTG
2/9594 0.0001 2 premature_stop Uncertain Significance
View 1 2338295 2338295 G > A PEX10 PEX10 NM_153818.1:c.700C>T
NM_002617.3:c.640C>T
NP_722540.1:p.Arg234Cys
NP_002608.1:p.Arg214Cys
5/11422 0.00022 3 non_synonymous Uncertain Significance
View 1 3301830 3301830 A > G PRDM16 PRDM16 NM_199454.2:c.553A>G
NM_022114.3:c.553A>G
NP_955533.2:p.Met185Val
NP_071397.3:p.Met185Val
6/9594 0.00031 3 non_synonymous Uncertain Significance
View 1 5937254 5937254 G > A NPHP4 NM_015102.3:c.2716C>T
NP_055917.1:p.Arg906Cys
7/11422 0.00031 3 Uncertain Significance
View 1 6529605 6529605 A > G PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 NM_001042663.1:c.2100T>C
NM_001042665.1:c.1932T>C
NM_001042664.1:c.1932T>C
NM_001265593.1:c.2139T>C
NM_020631.4:c.1932T>C
NM_001265594.1:c.1932T>C
NM_001265592.1:c.2169T>C
NM_198681.3:c.2163T>C
NP_001036128.1:p.Pro700=
NP_001036130.1:p.Pro644=
NP_001036129.1:p.Pro644=
NP_001252522.1:p.Pro713=
NP_065682.2:p.Pro644=
NP_001252523.1:p.Pro644=
NP_001252521.1:p.Pro723=
NP_941374.2:p.Pro721=
10/11422 0.00044 3 five_prime_exonic Uncertain Significance
View 1 8384555 8384555 A > G SLC45A1 NM_001080397.1:c.166A>G
NP_001073866.1:p.Ile56Val
1/9555 5.0e-05 3 non_synonymous Uncertain Significance
View 1 8384717 8384717 C > T SLC45A1 NM_001080397.1:c.328C>T
NP_001073866.1:p.Pro110Ser
1/9555 5.0e-05 3 non_synonymous Uncertain Significance
View 1 8420319 8420319 C > A RERE RERE RERE NM_012102.3:c.3248G>T
NM_001042682.1:c.1586G>T
NM_001042681.1:c.3248G>T
NP_036234.3:p.Gly1083Val
NP_001036147.1:p.Gly529Val
NP_001036146.1:p.Gly1083Val
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 11103530 11103530 G > A MASP2 NM_006610.3:c.607C>T
NP_006601.2:p.Arg203Trp
8/9594 0.00042 3 non_synonymous Uncertain Significance
View 1 11736959 11736959 C > T MAD2L2 MAD2L2 NM_006341.3:c.278G>A
NM_001127325.1:c.278G>A
NP_006332.3:p.Arg93His
NP_001120797.1:p.Arg93His
9/9555 0.00047 3 non_synonymous Uncertain Significance
View 1 12429702 12429702 C > T VPS13D VPS13D ENST00000358136.3:c.10753C>T
ENST00000356315.4:c.10678C>T
ENSP00000350854.3:p.Arg3585Trp
ENSP00000348666.4:p.Arg3560Trp
2/9555 0.0001 3 non_synonymous Uncertain Significance
View 1 17349132 17349132 T > C SDHB TRNAN-GUU NM_003000.2:c.736A>G
NP_002991.2:p.Ile246Val
1/9594 5.0e-05 3 Uncertain Significance
View 1 19545802 19545802 G > A EMC1 TRNAN-GUU EMC1 EMC1 EMC1 NM_015047.2:c.2977C>T
NM_001271427.1:c.2974C>T
NM_001271428.1:c.2974C>T
NM_001271429.1:c.2911C>T
NP_055862.1:p.Arg993Ter
NP_001258356.1:p.Arg992Ter
NP_001258357.1:p.Arg992Ter
NP_001258358.1:p.Arg971Ter
1/9594 5.0e-05 3 premature_stop Uncertain Significance
View 1 20964534 20964534 C > T TRNAN-GUU PINK1 NM_032409.2:c.587C>T
NP_115785.1:p.Pro196Leu
9/9594 0.00047 3 Uncertain Significance
View 1 20979136 20979136 G > A TRNAN-GUU DDOST ENST00000375048.3:c.1199C>T
ENSP00000364188.3:p.Thr400Ile
56/9594 0.00292 3 non_synonymous Uncertain Significance
View 1 20981934 20981934 C > T TRNAN-GUU DDOST ENST00000375048.3:c.601G>A
ENSP00000364188.3:p.Gly201Arg
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 22181472 22181472 C > T TRNAN-GUU HSPG2 NM_005529.5:c.6002G>A
NP_005520.4:p.Arg2001Gln
2/11422 9.0e-05 3 non_synonymous Uncertain Significance
View 1 23399783 23399783 A > G TRNAN-GUU KDM1A KDM1A NM_015013.3:c.1551-2A>G
NM_001009999.2:c.1623-2A>G
2/9594 0.0001 2 acceptor_site Uncertain Significance
View 1 27023087 27023087 C > G ARID1A TRNAN-GUU ARID1A NM_139135.2:c.193C>G
NM_006015.4:c.193C>G
NP_624361.1:p.Pro65Ala
NP_006006.3:p.Pro65Ala
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 27089679 27089679 G > A ARID1A TRNAN-GUU ARID1A NM_139135.2:c.2635G>A
NM_006015.4:c.2635G>A
NP_624361.1:p.Val879Ile
NP_006006.3:p.Val879Ile
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 27120874 27120874 A > G PIGV TRNAN-GUU PIGV NM_001202554.1:c.349A>G
NM_017837.3:c.349A>G
NP_001189483.1:p.Ile117Val
NP_060307.2:p.Ile117Val
31/9594 0.00162 3 non_synonymous Uncertain Significance
View 1 27878526 27878526 G > T TRNAN-GUU AHDC1 NM_001029882.2:c.101C>A
NP_001025053.1:p.Thr34Asn
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 27930145 27930145 T > C TRNAN-GUU 1/2986 0.00017 4 intronic Uncertain Significance
View 1 29542504 29542504 T > C TRNAN-GUU MECR MECR NM_016011.2:c.406+13A>G
NM_001024732.1:c.178+13A>G
17/9555 0.00089 3 five_prime_intronic Uncertain Significance
View 1 38006125 38006125 G > A TRNAN-GUU SNIP1 NM_024700.3:c.559C>T
NP_078976.2:p.Arg187Trp
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 38006200 38006200 C > A TRNAN-GUU SNIP1 NM_024700.3:c.484G>T
NP_078976.2:p.Gly162Cys
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 1 40539750 40539750 T > C TRNAN-GUU PPT1 PPT1 NM_001142604.1:c.595A>G
NM_000310.3:c.904A>G
NP_001136076.1:p.Ile199Val
NP_000301.1:p.Ile302Val
25/11422 0.00109 3 non_synonymous Uncertain Significance
View 1 40737667 40737667 G > C TRNAN-GUU ZMPSTE24 NM_005857.4:c.729G>C
NP_005848.2:p.Lys243Asn
1/11422 4.0e-05 3 non_synonymous Uncertain Significance
View 1 40770513 40770513 G > A COL9A2 TRNAN-GUU NM_001852.3:c.1114C>T
NP_001843.1:p.Pro372Ser
5/9594 0.00026 3 non_synonymous Uncertain Significance
View 1 40777800 40777800 T > C COL9A2 TRNAN-GUU NM_001852.3:c.364-16A>G
13/9555 0.00068 3 three_prime_flank Uncertain Significance
View 1 40782845 40782845 G > C COL9A2 TRNAN-GUU NM_001852.3:c.25C>G
NP_001843.1:p.Arg9Gly
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 1 43880870 43880870 G > A TRNAN-GUU SZT2 NM_015284.3:c.616G>A
NP_056099.3:p.Asp206Asn
1/9585 5.0e-05 3 non_synonymous Uncertain Significance
View 1 43896304 43896304 G > A TRNAN-GUU SZT2 NM_015284.3:c.4447G>A
NP_056099.3:p.Asp1483Asn
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 1 43896743 43896743 C > T TRNAN-GUU SZT2 NM_015284.3:c.4727C>T
NP_056099.3:p.Ser1576Leu
57/9594 0.00297 3 non_synonymous Uncertain Significance
View 1 44365379 44365379 A > G ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 TRNAN-GUU ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 NM_001270461.1:c.676A>G
NM_001270462.1:c.583A>G
NM_174968.3:c.886A>G
NM_174969.2:c.676A>G
NM_001270463.1:c.554+444A>G
NM_001270464.1:c.509+444A>G
NM_174967.2:c.397+5230A>G
NM_001270465.1:c.*22+418A>G
NM_001270466.1:c.255-30425A>G
NR_073020.1:n.700+444A>G
NR_073021.1:n.922+444A>G
NM_001270460.1:c.631A>G
NR_073023.1:n.588+5230A>G
NM_001270459.1:c.724A>G
NM_174966.2:c.724A>G
NM_174965.2:c.442+5230A>G
NM_174963.3:c.931A>G
NM_174964.2:c.769A>G
NR_073019.1:n.763A>G
NR_073018.1:n.1088A>G
NR_073017.1:n.824A>G
NR_073016.1:n.947A>G
NM_006279.3:c.724A>G
NM_174971.3:c.838A>G
NM_174970.2:c.349+5230A>G
NP_001257390.1:p.Ile226Val
NP_001257391.1:p.Ile195Val
NP_777628.2:p.Ile296Val
NP_777629.1:p.Ile226Val
NP_001257389.1:p.Ile211Val
NP_001257388.1:p.Ile242Val
NP_777626.1:p.Ile242Val
NP_777623.2:p.Ile311Val
NP_777624.1:p.Ile257Val
NP_006270.1:p.Ile242Val
NP_777631.2:p.Ile280Val
3/11422 0.00013 3 non_synonymous Uncertain Significance
View 1 45292607 45292607 C > T TRNAN-GUU PTCH2 PTCH2 NM_003738.4:c.2662G>A
NM_001166292.1:c.2662G>A
NP_003729.3:p.Asp888Asn
NP_001159764.1:p.Asp888Asn
4/9594 0.00021 3 non_synonymous Uncertain Significance
View 1 45297377 45297377 C > T TRNAN-GUU PTCH2 PTCH2 NM_003738.4:c.617+1G>A
NM_001166292.1:c.617+1G>A
2/9594 0.0001 2 donor_site Uncertain Significance
View 1 45974002 45974002 G > A TRNAN-GUU MMACHC NM_015506.2:c.395G>A
NP_056321.2:p.Arg132Gln
8/11422 0.00035 3 non_synonymous Uncertain Significance
View 1 47746237 47746237 A > C STIL TRNAN-GUU STIL NM_001048166.1:c.1893T>G
NM_003035.2:c.1893T>G
NP_001041631.1:p.Asp631Glu
NP_003026.2:p.Asp631Glu
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 1 47746352 47746352 G > C STIL TRNAN-GUU STIL NM_001048166.1:c.1778C>G
NM_003035.2:c.1778C>G
NP_001041631.1:p.Pro593Arg
NP_003026.2:p.Pro593Arg
4/9594 0.00021 3 non_synonymous Uncertain Significance
View 1 52849092 52849092 C > G ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.2013G>C
NM_004153.3:c.2013G>C
NM_001190819.1:c.1998G>C
NP_001177747.1:p.Leu671=
NP_004144.2:p.Leu671=
NP_001177748.1:p.Leu666=
3/9594 0.00016 3 five_prime_exonic Uncertain Significance
View 1 52850256 52850256 G > A ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.1721C>T
NM_004153.3:c.1721C>T
NM_001190819.1:c.1706C>T
NP_001177747.1:p.Thr574Met
NP_004144.2:p.Thr574Met
NP_001177748.1:p.Thr569Met
5/9594 0.00026 3 Uncertain Significance
View 1 53446095 53446096 - > C TRNAN-GUU SCP2 SCP2 SCP2 SCP2 SCP2 NM_002979.4:c.854dupC
NM_001193600.1:c.722dupC
NM_001007098.2:c.722dupC
NM_001193617.1:c.611dupC
NM_001193599.1:c.782dupC
NP_002970.2:p.Arg286LysfsTer5
NP_001180529.1:p.Arg242LysfsTer5
NP_001007099.1:p.Arg242LysfsTer5
NP_001180546.1:p.Arg205LysfsTer5
NP_001180528.1:p.Arg262LysfsTer5
2/9594 0.0001 3 frameshift Uncertain Significance
View 1 53675699 53675699 A > G TRNAN-GUU CPT2 NM_000098.2:c.353A>G
NP_000089.1:p.Asp118Gly
38/11422 0.00166 3 non_synonymous Uncertain Significance
Displaying 1 through 50 of 1,510 variants