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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 52162895 52162895 G > A SCN8A SCN8A NM_014191.3:c.3148G>A
NM_001177984.2:c.3148G>A
NP_055006.1:p.Gly1050Ser
NP_001171455.1:p.Gly1050Ser
4/6955 0.00029 3 Uncertain Significance
View 12 52163014 52163014 C > A SCN8A SCN8A NM_014191.3:c.3267C>A
NM_001177984.2:c.3267C>A
NP_055006.1:p.Asn1089Lys
NP_001171455.1:p.Asn1089Lys
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 12 52183055 52183055 C > G SCN8A SCN8A NM_014191.3:c.4282-10C>G
NM_001177984.2:c.4159-10C>G
2/6955 0.00014 3 polypyrimidine_tract Uncertain Significance
View 12 52307831 52307831 G > A ACVRL1 ACVRL1 NM_000020.2:c.599G>A
NM_001077401.1:c.599G>A
NP_000011.2:p.Arg200Gln
NP_001070869.1:p.Arg200Gln
3/6955 0.00022 3 non_synonymous Uncertain Significance
View 12 56090796 56090796 G > A ITGA7 ITGA7 ITGA7 NM_001144996.1:c.1636C>T
NM_001144997.1:c.1345C>T
NM_002206.2:c.1624C>T
NP_001138468.1:p.Arg546Cys
NP_001138469.1:p.Arg449Cys
NP_002197.2:p.Arg542Cys
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 12 56397802 56397802 C > T SUOX SUOX SUOX NM_000456.2:c.629C>T
NM_001032386.1:c.629C>T
NM_001032387.1:c.629C>T
NP_000447.2:p.Pro210Leu
NP_001027558.1:p.Pro210Leu
NP_001027559.1:p.Pro210Leu
71/8745 0.00406 3 non_synonymous Uncertain Significance
View 12 56398479 56398479 G > A SUOX SUOX SUOX NM_000456.2:c.1306G>A
NM_001032386.1:c.1306G>A
NM_001032387.1:c.1306G>A
NP_000447.2:p.Glu436Lys
NP_001027558.1:p.Glu436Lys
NP_001027559.1:p.Glu436Lys
7/8745 0.0004 3 non_synonymous Uncertain Significance
View 12 56749319 56749320 - > A STAT2 STAT2 NM_198332.1:c.370-4dupT
NM_005419.3:c.382-4dupT
2/6955 0.00014 3 polypyrimidine_tract Uncertain Significance
View 12 57975714 57975714 C > A KIF5A NM_004984.2:c.2971C>A
NP_004975.2:p.Gln991Lys
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 12 58186824 58186824 G > C TSFM TSFM TSFM TSFM NM_005726.5:c.539G>C
NM_001172697.1:c.539G>C
NM_001172696.1:c.602G>C
NM_001172695.1:c.484-3136G>C
NP_005717.3:p.Gly180Ala
NP_001166168.1:p.Gly180Ala
NP_001166167.1:p.Gly201Ala
2/8745 0.00011 3 non_synonymous Uncertain Significance
View 12 64173810 64173810 G > C RXYLT1 NM_014254.2:c.70G>C
NP_055069.1:p.Ala24Pro
1/6955 7.0e-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
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 12 80752642 80752642 T > G OTOGL NM_173591.3:c.6202T>G
NP_775862.3:p.Cys2068Gly
3/6955 0.00022 3 non_synonymous Uncertain Significance
View 12 88452656 88452656 T > C CEP290 ENST00000552810.1:c.6787A>G
ENSP00000448012.1:p.Ser2263Gly
4/8745 0.00023 3 Uncertain Significance
View 12 88453691 88453691 C > T CEP290 ENST00000552810.1:c.6629G>A
ENSP00000448012.1:p.Arg2210His
2/8745 0.00011 3 non_synonymous Uncertain Significance
View 12 88472949 88472949 G > A CEP290 ENST00000552810.1:c.5284C>T
ENSP00000448012.1:p.Arg1762Cys
4/8745 0.00023 3 non_synonymous Uncertain Significance
View 12 88480213 88480213 G > T CEP290 ENST00000552810.1:c.4257C>A
ENSP00000448012.1:p.Asp1419Glu
2/8745 0.00011 3 non_synonymous Uncertain Significance
View 12 88481649 88481649 C > T CEP290 ENST00000552810.1:c.4102G>A
ENSP00000448012.1:p.Asp1368Asn
9/8745 0.00051 3 non_synonymous Uncertain Significance
View 12 88496626 88496626 C > T CEP290 ENST00000552810.1:c.2980G>A
ENSP00000448012.1:p.Glu994Lys
50/8745 0.00286 3 Uncertain Significance
View 12 88520188 88520188 T > C CEP290 ENST00000552810.1:c.970A>G
ENSP00000448012.1:p.Ile324Val
1/8745 6.0e-05 3 non_synonymous Uncertain Significance
View 12 88524191 88524191 G > T CEP290 ENST00000552810.1:c.523C>A
ENSP00000448012.1:p.Gln175Lys
2/8745 0.00011 3 non_synonymous Uncertain Significance
View 12 88530529 88530529 C > T CEP290 ENST00000552810.1:c.332G>A
ENSP00000448012.1:p.Arg111Gln
2/8745 0.00011 3 non_synonymous Uncertain Significance
View 12 88532979 88532979 A > T CEP290 ENST00000552810.1:c.251-11T>A
43/8706 0.00258 3 polypyrimidine_tract Uncertain Significance
View 12 103288576 103288576 T > G PAH ENST00000553106.1:c.289A>C
ENSP00000448059.1:p.Ile97Leu
3/8745 0.00017 3 Uncertain Significance
View 12 105519873 105519873 G > A WASHC4 NM_015275.1:c.878G>A
NP_056090.1:p.Arg293Gln
31/6955 0.00223 3 non_synonymous Uncertain Significance
View 12 105520097 105520097 T > C WASHC4 NM_015275.1:c.995T>C
NP_056090.1:p.Ile332Thr
17/6955 0.00122 3 non_synonymous Uncertain Significance
View 12 105538108 105538108 G > A WASHC4 NM_015275.1:c.2054G>A
NP_056090.1:p.Arg685Gln
1/6955 7.0e-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
2/8745 0.00011 3 Uncertain Significance
View 12 110252488 110252488 A > T TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 NM_021625.4:c.114T>A
NM_001177428.1:c.114T>A
NM_147204.2:c.114T>A
NM_001177431.1:c.79+35T>A
NM_001177433.1:c.114T>A
NP_067638.3:p.Asn38Lys
NP_001170899.1:p.Asn38Lys
NP_671737.1:p.Asn38Lys
NP_001170904.1:p.Asn38Lys
4/6955 0.00029 3 non_synonymous Uncertain Significance
View 12 111085046 111085046 A > G TCTN1 TCTN1 TCTN1 TCTN1 TCTN1 NM_001173976.1:c.1213A>G
NM_001173975.1:c.1357A>G
NM_024549.5:c.1483A>G
NM_001082538.2:c.1540A>G
NM_001082537.2:c.1525A>G
NP_001167447.1:p.Ile405Val
NP_001167446.1:p.Ile453Val
NP_078825.2:p.Ile495Val
NP_001076007.1:p.Ile514Val
NP_001076006.1:p.Ile509Val
2/6955 0.00014 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
2/6955 0.00014 1 Uncertain Significance
View 12 123738333 123738333 G > A C12orf65 C12orf65 C12orf65 NM_001194995.1:c.112G>A
NM_001143905.2:c.112G>A
NM_152269.4:c.112G>A
NP_001181924.1:p.Val38Ile
NP_001137377.1:p.Val38Ile
NP_689482.1:p.Val38Ile
2/6955 0.00014 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
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 12 124210793 124210793 T > G ATP6V0A2 NM_012463.3:c.482T>G
NP_036595.2:p.Leu161Trp
2/8745 0.00011 3 non_synonymous Uncertain Significance
View 12 133263886 133263886 C > G POLE NM_006231.2:c.16G>C
NP_006222.2:p.Gly6Arg
45/6955 0.00331 3 non_synonymous Uncertain Significance
View 12 133331689 133331689 C > T ANKLE2 NM_015114.1:c.212G>A
NP_055929.1:p.Arg71Gln
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 13 20763234 20763234 T > C GJB2 NM_004004.5:c.487A>G
NP_003995.2:p.Met163Val
7/8745 0.0004 3 Uncertain Significance
View 13 23909622 23909622 G > T SACS SACS NM_001278055.1:c.7952C>A
NM_014363.5:c.8393C>A
NP_001264984.1:p.Pro2651Gln
NP_055178.3:p.Pro2798Gln
47/8745 0.00274 3 Uncertain Significance
View 13 23911503 23911503 G > C SACS SACS NM_001278055.1:c.6071C>G
NM_014363.5:c.6512C>G
NP_001264984.1:p.Ala2024Gly
NP_055178.3:p.Ala2171Gly
2/8745 0.00011 3 non_synonymous Uncertain Significance
View 13 23912173 23912173 C > T SACS SACS NM_001278055.1:c.5401G>A
NM_014363.5:c.5842G>A
NP_001264984.1:p.Asp1801Asn
NP_055178.3:p.Asp1948Asn
1/8745 6.0e-05 3 non_synonymous Uncertain Significance
View 13 25486960 25486960 T > C CENPJ CENPJ CENPJ NM_018451.4:c.204A>G
NR_047595.1:n.399A>G
NR_047594.1:n.399A>G
NP_060921.3:p.Ile68Met
3/6955 0.00022 3 non_synonymous Uncertain Significance
View 13 25946436 25946436 G > A ATP8A2 NM_016529.4:c.76+10G>A
14/6955 0.00101 3 five_prime_intronic Uncertain Significance
View 13 32906593 32906593 C > A BRCA2 ENST00000380152.3:c.978C>A
ENSP00000369497.3:p.Ser326Arg
14/6955 0.00101 3 Uncertain Significance
View 13 32972525 32972525 C > T BRCA2 ENST00000380152.3:c.9875C>T
ENSP00000369497.3:p.Pro3292Leu
5/6955 0.00036 3 Uncertain Significance
View 13 36878677 36878677 A > G SPART SPART SPART SPART NM_001142295.1:c.1826T>C
NM_001142294.1:c.1826T>C
NM_015087.4:c.1826T>C
NM_001142296.1:c.1826T>C
NP_001135767.1:p.Ile609Thr
NP_001135766.1:p.Ile609Thr
NP_055902.1:p.Ile609Thr
NP_001135768.1:p.Ile609Thr
1/6955 7.0e-05 3 non_synonymous Uncertain Significance
View 13 39358736 39358736 C > T FREM2 NM_207361.4:c.5810C>T
NP_997244.3:p.Ser1937Phe
1/8745 6.0e-05 3 non_synonymous Uncertain Significance
View 13 40251659 40251659 A > C COG6 COG6 COG6 NM_001145079.1:c.483A>C
NM_020751.2:c.483A>C
NR_026745.1:n.648A>C
NP_001138551.1:p.Gln161His
NP_065802.1:p.Gln161His
2/6955 0.00014 3 non_synonymous Uncertain Significance
View 13 48575357 48575357 G > C SUCLA2 NM_003850.2:c.49C>G
NP_003841.1:p.Arg17Gly
3/8745 0.00017 3 non_synonymous Uncertain Significance
View 13 52508989 52508989 G > A ATP7B ATP7B ATP7B NM_001243182.1:c.3968C>T
NM_000053.3:c.4301C>T
NM_001005918.2:c.3680C>T
NP_001230111.1:p.Thr1323Met
NP_000044.2:p.Thr1434Met
NP_001005918.1:p.Thr1227Met
21/8954 0.00117 3 Uncertain Significance
View 13 52520508 52520508 G > A ATP7B ATP7B ATP7B NM_001243182.1:c.2639C>T
NM_000053.3:c.2972C>T
NM_001005918.2:c.2351C>T
NP_001230111.1:p.Thr880Met
NP_000044.2:p.Thr991Met
NP_001005918.1:p.Thr784Met
55/9143 0.00301 3 Uncertain Significance
Displaying 200 through 250 of 1,125 variants