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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 11 64527223 64527223 G > A PYGM PYGM NM_005609.2:c.148C>T
NM_001164716.1:c.148C>T
NP_005600.1:p.Arg50Ter
NP_001158188.1:p.Arg50Ter
41/10293 0.00199 1 Pathogenic
View 11 65307505 65307505 G > A LTBP3 LTBP3 LTBP3 NM_021070.4:c.3245-153C>T
NM_001130144.2:c.3364C>T
NM_001164266.1:c.2894-153C>T
NP_001123616.1:p.Gln1122Ter
1/9594 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View 11 65978677 65978677 C > T PACS1 NM_018026.3:c.607C>T
NP_060496.2:p.Arg203Trp
1/9594 5.0e-05 1 Pathogenic
View 11 66281940 66281941 CT > - BBS1 NM_024649.4:c.223_224del
NP_078925.3:p.Leu75GlyfsTer23
2/9594 0.0001 1 Pathogenic
View 11 66293652 66293652 T > G BBS1 NM_024649.4:c.1169T>G
NP_078925.3:p.Met390Arg
58/9594 0.00313 1 Pathogenic
View 11 67378501 67378501 G > A NDUFV1 NDUFV1 NM_007103.3:c.736G>A
NM_001166102.1:c.709G>A
NP_009034.2:p.Glu246Lys
NP_001159574.1:p.Glu237Lys
6/11422 0.00026 1 Pathogenic
View 11 67379443 67379443 C > T NDUFV1 NDUFV1 NM_007103.3:c.1156C>T
NM_001166102.1:c.1129C>T
NP_009034.2:p.Arg386Cys
NP_001159574.1:p.Arg377Cys
3/11422 0.00018 1 Pathogenic
View 11 68701322 68701322 C > T IGHMBP2 NM_002180.2:c.1478C>T
NP_002171.2:p.Thr493Ile
8/11422 0.00035 1 Pathogenic
View 11 68701332 68701332 C > A IGHMBP2 NM_002180.2:c.1488C>A
NP_002171.2:p.Cys496Ter
4/11422 0.00018 1 Pathogenic
View 11 68703756 68703756 G > A IGHMBP2 NM_002180.2:c.1808G>A
NP_002171.2:p.Arg603His
6/11422 0.00031 1 Pathogenic
View 11 68707126 68707127 AG > - IGHMBP2 NM_002180.2:c.2911_2912del
NP_002171.2:p.Arg971GlufsTer4
6/11422 0.00026 1 Pathogenic
View 11 71146886 71146886 C > A DHCR7 DHCR7 NM_001163817.1:c.964-1G>T
NM_001360.2:c.964-1G>T
4/11422 0.00018 1 Pathogenic
View 11 71146886 71146886 C > G DHCR7 DHCR7 NM_001163817.1:c.964-1G>C
NM_001360.2:c.964-1G>C
146/11422 0.00643 1 Pathogenic
View 11 71152378 71152378 A > G DHCR7 DHCR7 NM_001163817.1:c.521T>C
NM_001360.2:c.521T>C
NP_001157289.1:p.Phe174Ser
NP_001351.2:p.Phe174Ser
2/11422 9.0e-05 1 Pathogenic
View 11 71152447 71152447 C > T DHCR7 DHCR7 NM_001163817.1:c.452G>A
NM_001360.2:c.452G>A
NP_001157289.1:p.Trp151Ter
NP_001351.2:p.Trp151Ter
21/11422 0.00092 1 Pathogenic
View 11 71155998 71155998 T > C DHCR7 DHCR7 NM_001163817.1:c.1A>G
NM_001360.2:c.1A>G
NP_001157289.1:p.Met1?
NP_001351.2:p.Met1?
3/11422 0.00013 1 Pathogenic
View 11 89017973 89017973 C > T TYR NM_000372.4:c.1217C>T
NP_000363.1:p.Pro406Leu
81/9594 0.00422 1 Pathogenic
View 11 103091449 103091449 A > G DYNC2H1 DYNC2H1 NM_001080463.1:c.9044A>G
NM_001377.2:c.9044A>G
NP_001073932.1:p.Asp3015Gly
NP_001368.2:p.Asp3015Gly
10/11422 0.00044 1 Pathogenic
View 11 103187273 103187273 G > A DYNC2H1 DYNC2H1 NM_001080463.1:c.11671-1G>A
NM_001377.2:c.11650-1G>A
1/11422 4.0e-05 1 ClinVar pathogenic variant Pathogenic
View 11 108009661 108009661 A > G ACAT1 NM_000019.3:c.472A>G
NP_000010.1:p.Asn158Asp
2/11422 9.0e-05 1 Pathogenic
View 11 108010834 108010834 C > T ACAT1 NM_000019.3:c.622C>T
NP_000010.1:p.Arg208Ter
3/11422 0.00013 1 Pathogenic
View 11 108121753 108121754 AG > - ATM ENST00000278616.4:c.1564_1565del
ENSP00000278616.4:p.Glu522IlefsTer43
3/11422 0.00013 1 Pathogenic
View 11 118375197 118375197 C > T KMT2A KMT2A NM_001197104.1:c.8590C>T
NM_005933.3:c.8581C>T
NP_001184033.1:p.Gln2864Ter
NP_005924.2:p.Gln2861Ter
1/9594 5.0e-05 1 Pathogenic
View 11 118390416 118390416 C > T KMT2A KMT2A NM_001197104.1:c.11230C>T
NM_005933.3:c.11221C>T
NP_001184033.1:p.Arg3744Ter
NP_005924.2:p.Arg3741Ter
1/9594 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View 11 118895981 118895982 AG > - SLC37A4 SLC37A4 SLC37A4 SLC37A4 SLC37A4 ENST00000357590.5:c.1108_1109del
ENST00000538950.1:c.823_824del
NM_001164280.1:c.1043_1044del
ENST00000330775.7:c.1105_1106del
ENST00000545985.1:c.1042_1043del
ENSP00000476176.1:p.Leu370ValfsTer53
ENSP00000475991.1:p.Leu275ValfsTer53
NP_001157752.1:p.Pro348ArgfsTer?
ENSP00000476242.1:p.Leu369ValfsTer53
ENSP00000475241.1:p.Leu348ValfsTer53
10/11422 0.00044 1 ClinVar pathogenic variant Pathogenic
View 11 119148880 119148880 A > C CBL NM_005188.3:c.1100A>C
NP_005179.2:p.Gln367Pro
2/9594 0.0001 1 Pathogenic
View 12 5021268 5021268 G > C KCNA1 NM_000217.2:c.724G>C
NP_000208.2:p.Ala242Pro
2/9594 0.0001 1 Pathogenic
View 12 6143978 6143978 C > T VWF ENST00000261405.5:c.2561G>A
ENSP00000261405.5:p.Arg854Gln
81/9594 0.00433 1 Pathogenic
View 12 13724865 13724865 G > A GRIN2B NM_000834.3:c.2044C>T
NP_000825.2:p.Arg682Cys
1/9594 5.0e-05 1 Pathogenic
View 12 48373317 48373317 G > A COL2A1 COL2A1 NM_033150.2:c.2503C>T
NM_001844.4:c.2710C>T
NP_149162.2:p.Arg835Cys
NP_001835.3:p.Arg904Cys
1/9594 5.0e-05 1 Pathogenic
View 12 48374723 48374723 C > A COL2A1 COL2A1 NM_033150.2:c.2285G>T
NM_001844.4:c.2492G>T
NP_149162.2:p.Gly762Val
NP_001835.3:p.Gly831Val
1/9594 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View 12 49420661 49420661 G > A KMT2D NM_003482.3:c.15088C>T
NP_003473.3:p.Arg5030Cys
1/9594 5.0e-05 1 Pathogenic
View 12 49432295 49432298 TGGA > - KMT2D NM_003482.3:c.8841_8844del
NP_003473.3:p.His2947GlnfsTer56
1/9594 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View 12 49445620 49445621 - > A KMT2D NM_003482.3:c.1845dupT
NP_003473.3:p.Pro616SerfsTer7
1/9594 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View 12 49579508 49579508 C > T TUBA1A TUBA1A TUBA1A NM_001270399.1:c.641G>A
NM_006009.3:c.641G>A
NM_001270400.1:c.536G>A
NP_001257328.1:p.Arg214His
NP_006000.2:p.Arg214His
NP_001257329.1:p.Arg179His
1/11422 4.0e-05 1 Pathogenic
View 12 52200900 52200900 A > G SCN8A SCN8A NM_014191.3:c.5630A>G
NM_001177984.2:c.5507A>G
NP_055006.1:p.Asn1877Ser
NP_001171455.1:p.Asn1836Ser
1/9594 5.0e-05 1 Pathogenic
View 12 53715207 53715207 G > T AAAS AAAS NM_001173466.1:c.43C>A
NM_015665.5:c.43C>A
NP_001166937.1:p.Gln15Lys
NP_056480.1:p.Gln15Lys
7/11422 0.00031 1 Pathogenic
View 12 88471040 88471040 C > A CEP290 ENST00000552810.1:c.5668G>T
ENSP00000448012.1:p.Gly1890Ter
3/11422 0.00013 1 Pathogenic
View 12 88524101 88524101 G > A CEP290 ENST00000552810.1:c.613C>T
ENSP00000448012.1:p.Arg205Ter
2/11422 9.0e-05 1 Pathogenic
View 12 88530424 88530424 T > - CEP290 ENST00000552810.1:c.437del
ENSP00000448012.1:p.Glu146GlyfsTer17
2/11422 9.0e-05 1 Pathogenic
View 12 102147248 102147249 GA > - GNPTAB NM_024312.4:c.3503_3504del
NP_077288.2:p.Leu1168GlnfsTer5
25/11422 0.00109 1 Pathogenic
View 12 103234252 103234252 T > C PAH ENST00000553106.1:c.1241A>G
ENSP00000448059.1:p.Tyr414Cys
16/11422 0.0007 1 Pathogenic
View 12 103234271 103234271 G > A PAH ENST00000553106.1:c.1222C>T
ENSP00000448059.1:p.Arg408Trp
15/11422 0.00066 1 Pathogenic
View 12 103238146 103238146 C > A PAH ENST00000553106.1:c.1033G>T
ENSP00000448059.1:p.Ala345Ser
1/11422 4.0e-05 1 Pathogenic
View 12 103246653 103246653 C > T PAH ENST00000553106.1:c.782G>A
ENSP00000448059.1:p.Arg261Gln
7/11422 0.00031 1 Pathogenic
View 12 103246714 103246714 G > A PAH ENST00000553106.1:c.721C>T
ENSP00000448059.1:p.Arg241Cys
1/11422 4.0e-05 1 Pathogenic
View 12 103249093 103249093 C > A PAH ENST00000553106.1:c.527G>T
ENSP00000448059.1:p.Arg176Leu
4/11422 0.00018 1 Pathogenic
View 12 103260410 103260410 C > T PAH ENST00000553106.1:c.473G>A
ENSP00000448059.1:p.Arg158Gln
5/11422 0.00026 1 Pathogenic
View 12 103306594 103306594 A > G PAH ENST00000553106.1:c.143T>C
ENSP00000448059.1:p.Leu48Ser
8/11422 0.00035 1 Pathogenic
View 12 109994886 109994886 G > A MMAB MMAB NR_038118.1:n.860C>T
NM_052845.3:c.700C>T
NP_443077.1:p.Gln234Ter
4/11422 0.00018 1 Pathogenic
Displaying 100 through 150 of 574 variants