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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 12 58186824 58186824 G > C TSFM TSFM TSFM TSFM NM_001172696.1:c.602G>C
NM_005726.5:c.539G>C
NM_001172697.1:c.539G>C
NM_001172695.1:c.484-3136G>C
NP_001166167.1:p.Gly201Ala
NP_005717.3:p.Gly180Ala
NP_001166168.1:p.Gly180Ala
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 12 64173810 64173810 G > C TMEM5 NM_014254.2:c.70G>C
NP_055069.1:p.Ala24Pro
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 12 65633794 65633794 G > A LEMD3 LEMD3 NM_001167614.1:c.2004G>A
NM_014319.4:c.2007G>A
NP_001161086.1:p.Met668Ile
NP_055134.2:p.Met669Ile
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 12 80752642 80752642 T > G OTOGL NM_173591.3:c.6202T>G
NP_775862.3:p.Cys2068Gly
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 12 88452656 88452656 T > C CEP290 ENST00000552810.1:c.6787A>G
ENSP00000448012.1:p.Ser2263Gly
4/8004 0.00025 3 Uncertain Significance
View 12 88453691 88453691 C > T CEP290 ENST00000552810.1:c.6629G>A
ENSP00000448012.1:p.Arg2210His
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 12 88472949 88472949 G > A CEP290 ENST00000552810.1:c.5284C>T
ENSP00000448012.1:p.Arg1762Cys
3/8004 0.00019 3 non_synonymous Uncertain Significance
View 12 88480213 88480213 G > T CEP290 ENST00000552810.1:c.4257C>A
ENSP00000448012.1:p.Asp1419Glu
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 12 88481649 88481649 C > T CEP290 ENST00000552810.1:c.4102G>A
ENSP00000448012.1:p.Asp1368Asn
9/8004 0.00056 3 non_synonymous Uncertain Significance
View 12 88496626 88496626 C > T CEP290 ENST00000552810.1:c.2980G>A
ENSP00000448012.1:p.Glu994Lys
49/8004 0.00306 3 Uncertain Significance
View 12 88520188 88520188 T > C CEP290 ENST00000552810.1:c.970A>G
ENSP00000448012.1:p.Ile324Val
1/8004 6.0e-05 3 non_synonymous Uncertain Significance
View 12 88524191 88524191 G > T CEP290 ENST00000552810.1:c.523C>A
ENSP00000448012.1:p.Gln175Lys
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 12 88532979 88532979 A > T CEP290 ENST00000552810.1:c.251-11T>A
42/7965 0.00276 3 polypyrimidine_tract Uncertain Significance
View 12 103288576 103288576 T > G PAH ENST00000553106.1:c.289A>C
ENSP00000448059.1:p.Ile97Leu
3/8004 0.00019 3 Uncertain Significance
View 12 105519873 105519873 G > A WASHC4 NM_015275.1:c.878G>A
NP_056090.1:p.Arg293Gln
28/6213 0.00225 3 non_synonymous Uncertain Significance
View 12 105520097 105520097 T > C WASHC4 NM_015275.1:c.995T>C
NP_056090.1:p.Ile332Thr
14/6213 0.00113 3 non_synonymous Uncertain Significance
View 12 105538108 105538108 G > A WASHC4 NM_015275.1:c.2054G>A
NP_056090.1:p.Arg685Gln
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 12 109998908 109998908 G > A MMAB MMAB NR_038118.1:n.681C>T
NM_052845.3:c.521C>T
NP_443077.1:p.Ser174Leu
2/8004 0.00012 3 Uncertain Significance
View 12 110252488 110252488 A > T TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 NM_021625.4:c.114T>A
NM_001177433.1:c.114T>A
NM_147204.2:c.114T>A
NM_001177428.1:c.114T>A
NM_001177431.1:c.79+35T>A
NP_067638.3:p.Asn38Lys
NP_001170904.1:p.Asn38Lys
NP_671737.1:p.Asn38Lys
NP_001170899.1:p.Asn38Lys
4/6213 0.00032 3 non_synonymous Uncertain Significance
View 12 111085046 111085046 A > G TCTN1 TCTN1 TCTN1 TCTN1 TCTN1 NM_001173975.1:c.1357A>G
NM_001082537.2:c.1525A>G
NM_001082538.2:c.1540A>G
NM_001173976.1:c.1213A>G
NM_024549.5:c.1483A>G
NP_001167446.1:p.Ile453Val
NP_001076006.1:p.Ile509Val
NP_001076007.1:p.Ile514Val
NP_001167447.1:p.Ile405Val
NP_078825.2:p.Ile495Val
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 12 112924336 112924336 G > A PTPN11 PTPN11 NM_002834.3:c.1282G>A
NM_080601.1:c.1282G>A
NP_002825.3:p.Val428Met
NP_542168.1:p.Val428Met
2/6213 0.00016 1 Uncertain Significance
View 12 123738333 123738333 G > A C12orf65 C12orf65 C12orf65 NM_001143905.2:c.112G>A
NM_152269.4:c.112G>A
NM_001194995.1:c.112G>A
NP_001137377.1:p.Val38Ile
NP_689482.1:p.Val38Ile
NP_001181924.1:p.Val38Ile
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 12 124172643 124172643 C > A TCTN2 TCTN2 NM_001143850.2:c.807C>A
NM_024809.4:c.810C>A
NP_001137322.1:p.Asp269Glu
NP_079085.2:p.Asp270Glu
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 12 124210793 124210793 T > G ATP6V0A2 NM_012463.3:c.482T>G
NP_036595.2:p.Leu161Trp
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 12 133263886 133263886 C > G POLE NM_006231.2:c.16G>C
NP_006222.2:p.Gly6Arg
40/6213 0.0033 3 non_synonymous Uncertain Significance
View 12 133331689 133331689 C > T ANKLE2 NM_015114.1:c.212G>A
NP_055929.1:p.Arg71Gln
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 13 23909622 23909622 G > T SACS SACS NM_014363.5:c.8393C>A
NM_001278055.1:c.7952C>A
NP_055178.3:p.Pro2798Gln
NP_001264984.1:p.Pro2651Gln
47/8004 0.003 3 Uncertain Significance
View 13 23911503 23911503 G > C SACS SACS NM_014363.5:c.6512C>G
NM_001278055.1:c.6071C>G
NP_055178.3:p.Ala2171Gly
NP_001264984.1:p.Ala2024Gly
2/8004 0.00012 3 non_synonymous Uncertain Significance
View 13 23912173 23912173 C > T SACS SACS NM_014363.5:c.5842G>A
NM_001278055.1:c.5401G>A
NP_055178.3:p.Asp1948Asn
NP_001264984.1:p.Asp1801Asn
1/8004 6.0e-05 3 non_synonymous Uncertain Significance
View 13 25486960 25486960 T > C CENPJ CENPJ CENPJ NR_047595.1:n.399A>G
NR_047594.1:n.399A>G
NM_018451.4:c.204A>G
NP_060921.3:p.Ile68Met
3/6213 0.00024 3 non_synonymous Uncertain Significance
View 13 25946436 25946436 G > A ATP8A2 NM_016529.4:c.76+10G>A
13/6213 0.00105 3 five_prime_intronic Uncertain Significance
View 13 32906593 32906593 C > A BRCA2 ENST00000380152.3:c.978C>A
ENSP00000369497.3:p.Ser326Arg
13/6213 0.00105 3 Uncertain Significance
View 13 32972525 32972525 C > T BRCA2 ENST00000380152.3:c.9875C>T
ENSP00000369497.3:p.Pro3292Leu
5/6213 0.0004 3 Uncertain Significance
View 13 36878677 36878677 A > G SPART SPART SPART SPART NM_015087.4:c.1826T>C
NM_001142296.1:c.1826T>C
NM_001142295.1:c.1826T>C
NM_001142294.1:c.1826T>C
NP_055902.1:p.Ile609Thr
NP_001135768.1:p.Ile609Thr
NP_001135767.1:p.Ile609Thr
NP_001135766.1:p.Ile609Thr
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 13 39358736 39358736 C > T FREM2 NM_207361.4:c.5810C>T
NP_997244.3:p.Ser1937Phe
1/8004 6.0e-05 3 non_synonymous Uncertain Significance
View 13 40251659 40251659 A > C COG6 COG6 COG6 NR_026745.1:n.648A>C
NM_020751.2:c.483A>C
NM_001145079.1:c.483A>C
NP_065802.1:p.Gln161His
NP_001138551.1:p.Gln161His
2/6213 0.00016 3 non_synonymous Uncertain Significance
View 13 48575357 48575357 G > C SUCLA2 NM_003850.2:c.49C>G
NP_003841.1:p.Arg17Gly
3/8004 0.00019 3 non_synonymous Uncertain Significance
View 13 52508989 52508989 G > A ATP7B ATP7B ATP7B NM_001243182.1:c.3968C>T
NM_001005918.2:c.3680C>T
NM_000053.3:c.4301C>T
NP_001230111.1:p.Thr1323Met
NP_001005918.1:p.Thr1227Met
NP_000044.2:p.Thr1434Met
20/8223 0.00122 3 Uncertain Significance
View 13 52520508 52520508 G > A ATP7B ATP7B ATP7B NM_001243182.1:c.2639C>T
NM_001005918.2:c.2351C>T
NM_000053.3:c.2972C>T
NP_001230111.1:p.Thr880Met
NP_001005918.1:p.Thr784Met
NP_000044.2:p.Thr991Met
53/8412 0.00315 3 Uncertain Significance
View 13 78492540 78492540 C > T EDNRB EDNRB EDNRB ENST00000334286.5:c.169G>A
ENST00000377211.4:c.439G>A
ENST00000446573.1:c.169G>A
ENSP00000335311.5:p.Gly57Ser
ENSP00000366416.4:p.Gly147Ser
ENSP00000403401.1:p.Gly57Ser
98/8004 0.00618 3 Uncertain Significance
View 13 110861756 110861756 C > T COL4A1 NM_001845.4:c.634G>A
NP_001836.2:p.Gly212Ser
1/6213 8.0e-05 3 non_synonymous Uncertain Significance
View 13 115089835 115089837 CTC > - CHAMP1 CHAMP1 CHAMP1 NM_001164145.1:c.520_522del
NM_032436.2:c.520_522del
NM_001164144.1:c.520_522del
NP_001157617.1:p.Pro174del
NP_115812.1:p.Pro174del
NP_001157616.1:p.Pro174del
20/6213 0.00161 3 in_frame_indel Uncertain Significance
View 14 23884269 23884269 G > A MYH7 NM_000257.2:c.5494C>T
NP_000248.2:p.Arg1832Cys
2/6213 0.00016 3 Uncertain Significance
View 14 23884437 23884437 T > C MYH7 NM_000257.2:c.5326A>G
NP_000248.2:p.Ser1776Gly
2/6213 0.00016 3 Uncertain Significance
View 14 23886458 23886458 G > A MYH7 NM_000257.2:c.4423C>T
NP_000248.2:p.Arg1475Cys
4/6213 0.00032 3 Uncertain Significance
View 14 23900798 23900798 C > T MYH7 NM_000257.2:c.728G>A
NP_000248.2:p.Arg243His
2/6213 0.00016 3 Uncertain Significance
View 14 29236687 29236687 C > T FOXG1 NM_005249.4:c.202C>T
NP_005240.3:p.Pro68Ser
1/6865 7.0e-05 3 non_synonymous Uncertain Significance
View 14 29236760 29236760 C > T FOXG1 NM_005249.4:c.275C>T
NP_005240.3:p.Ala92Val
1/6865 7.0e-05 3 non_synonymous Uncertain Significance
View 14 29237530 29237530 T > G FOXG1 NM_005249.4:c.1045T>G
NP_005240.3:p.Ser349Ala
2/6865 0.00015 3 non_synonymous Uncertain Significance
View 14 32319298 32319298 T > C NUBPL NUBPL NUBPL NM_025152.2:c.815-27T>C
NM_001201573.1:c.527-27T>C
NM_001201574.1:c.266-27T>C
45/6174 0.00364 3 Uncertain Significance
Displaying 200 through 250 of 1,072 variants