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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
17/13144 0.00065 3 non_synonymous Uncertain Significance
View 1 976884 976884 C > T AGRN NM_198576.3:c.979C>T
NP_940978.2:p.Pro327Ser
6/13144 0.00023 3 non_synonymous Uncertain Significance
View 1 981353 981353 C > T AGRN NM_198576.3:c.2690C>T
NP_940978.2:p.Ala897Val
72/13144 0.00274 3 non_synonymous Uncertain Significance
View 1 1168051 1168051 C > G B3GALT6 NM_080605.3:c.393C>G
NP_542172.2:p.Asn131Lys
2/13144 0.00011 3 non_synonymous Uncertain Significance
View 1 1271833 1271833 G > A DVL1 NM_004421.2:c.1702C>T
NP_004412.2:p.Arg568Trp
4/13144 0.00015 3 non_synonymous Uncertain Significance
View 1 1451437 1451437 C > T ATAD3A ATAD3A ATAD3A NM_001170535.1:c.251C>T
NM_001170536.1:c.14C>T
NM_018188.3:c.251C>T
NP_001164006.1:p.Thr84Met
NP_001164007.1:p.Thr5Met
NP_060658.3:p.Thr84Met
3/13144 0.00011 3 Uncertain Significance
View 1 1960633 1960633 G > A GABRD NM_000815.4:c.775G>A
NP_000806.2:p.Val259Ile
11/13144 0.00042 3 non_synonymous Uncertain Significance
View 1 2235762 2235762 C > T SKI NM_003036.3:c.1505C>T
NP_003027.1:p.Pro502Leu
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 1 2238200 2238201 - > GTAGATTCCGT SKI NM_003036.3:c.2185_*8dupTAGATTCCGTG
2/13144 8.0e-05 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
5/14969 0.00017 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
7/13144 0.00027 3 non_synonymous Uncertain Significance
View 1 5937254 5937254 G > A NPHP4 NM_015102.3:c.2716C>T
NP_055917.1:p.Arg906Cys
9/14969 0.0003 3 curation 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=
11/14969 0.00037 3 five_prime_exonic Uncertain Significance
View 1 8384425 8384425 T > G SLC45A1 NM_001080397.1:c.36T>G
NP_001073866.1:p.Asp12Glu
2/13105 8.0e-05 3 non_synonymous Uncertain Significance
View 1 8384555 8384555 A > G SLC45A1 NM_001080397.1:c.166A>G
NP_001073866.1:p.Ile56Val
1/13105 4.0e-05 3 non_synonymous Uncertain Significance
View 1 8384717 8384717 C > T SLC45A1 NM_001080397.1:c.328C>T
NP_001073866.1:p.Pro110Ser
1/13105 4.0e-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
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 10381797 10381797 C > G KIF1B NM_015074.3:c.2102C>G
NP_055889.2:p.Ala701Gly
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 1 11103530 11103530 G > A MASP2 NM_006610.3:c.607C>T
NP_006601.2:p.Arg203Trp
9/13144 0.00034 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
10/13105 0.00038 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
2/13105 8.0e-05 3 non_synonymous Uncertain Significance
View 1 15772400 15772400 T > C CTRC NM_007272.2:c.792+156T>C
2/11944 8.0e-05 3 intronic Uncertain Significance
View 1 17349132 17349132 T > C SDHB TRNAN-GUU NM_003000.2:c.736A>G
NP_002991.2:p.Ile246Val
1/13144 4.0e-05 3 curation Uncertain Significance
View 1 17739592 17739592 C > T TRNAN-GUU RCC2 RCC2 NM_018715.3:c.1290G>A
NM_001136204.2:c.1290G>A
NP_061185.1:p.Trp430Ter
NP_001129676.1:p.Trp430Ter
6/13105 0.00023 3 premature_stop Uncertain Significance
View 1 19215861 19215861 C > T ALDH4A1 TRNAN-GUU ALDH4A1 ALDH4A1 NM_001161504.1:c.64G>A
NM_170726.2:c.244G>A
NM_003748.3:c.244G>A
NP_001154976.1:p.Val22Met
NP_733844.1:p.Val82Met
NP_003739.2:p.Val82Met
16/13585 0.00059 3 non_synonymous 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
1/13144 4.0e-05 3 curation Uncertain Significance
View 1 20964534 20964534 C > T TRNAN-GUU PINK1 NM_032409.2:c.587C>T
NP_115785.1:p.Pro196Leu
9/13144 0.00034 3 curation Uncertain Significance
View 1 20979136 20979136 G > A TRNAN-GUU DDOST ENST00000375048.3:c.1199C>T
ENSP00000364188.3:p.Thr400Ile
74/13144 0.00281 3 non_synonymous Uncertain Significance
View 1 20981934 20981934 C > T TRNAN-GUU DDOST ENST00000375048.3:c.601G>A
ENSP00000364188.3:p.Gly201Arg
2/13144 8.0e-05 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
2/14969 7.0e-05 3 non_synonymous Uncertain Significance
View 1 22207017 22207017 C > A TRNAN-GUU HSPG2 NM_005529.5:c.2034G>T
NP_005520.4:p.Gln678His
6/14969 0.0002 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
2/11983 8.0e-05 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
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 27023916 27023916 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.1022C>T
NM_006015.4:c.1022C>T
NP_624361.1:p.Ala341Val
NP_006006.3:p.Ala341Val
7/13144 0.00027 3 non_synonymous Uncertain Significance
View 1 27056154 27056154 A > G ARID1A TRNAN-GUU ARID1A NM_139135.2:c.1150A>G
NM_006015.4:c.1150A>G
NP_624361.1:p.Met384Val
NP_006006.3:p.Met384Val
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 1 27088659 27088659 C > A ARID1A TRNAN-GUU ARID1A NM_139135.2:c.2268C>A
NM_006015.4:c.2268C>A
NP_624361.1:p.Asn756Lys
NP_006006.3:p.Asn756Lys
2/13144 8.0e-05 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
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 27099349 27099349 G > A ARID1A TRNAN-GUU ARID1A NM_139135.2:c.3586G>A
NM_006015.4:c.3586G>A
NP_624361.1:p.Asp1196Asn
NP_006006.3:p.Asp1196Asn
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 27120659 27120659 G > A PIGV TRNAN-GUU PIGV NM_001202554.1:c.134G>A
NM_017837.3:c.134G>A
NP_001189483.1:p.Arg45His
NP_060307.2:p.Arg45His
10/13144 0.00038 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
36/13144 0.00137 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
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 1 27930145 27930145 T > C TRNAN-GUU 1/3767 0.00013 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
25/11947 0.00105 3 five_prime_intronic Uncertain Significance
View 1 38003384 38003384 C > T TRNAN-GUU SNIP1 NM_024700.3:c.1156G>A
NP_078976.2:p.Asp386Asn
14/13144 0.00053 3 non_synonymous Uncertain Significance
View 1 38006125 38006125 G > A TRNAN-GUU SNIP1 NM_024700.3:c.559C>T
NP_078976.2:p.Arg187Trp
2/13144 8.0e-05 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
6/13144 0.00023 3 non_synonymous Uncertain Significance
View 1 39788601 39788601 G > T TRNAN-GUU MACF1 NM_012090.5:c.4172G>T
NP_036222.3:p.Arg1391Leu
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 1 39914268 39914268 G > T TRNAN-GUU MACF1 NM_012090.5:c.13914G>T
NP_036222.3:p.Glu4638Asp
2/13144 8.0e-05 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
35/14969 0.00117 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
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
Displaying 1 through 50 of 2,237 variants