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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 |