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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 6 129470136 129470136 G > A LAMA2 ENST00000421865.2:c.922G>A
ENSP00000400365.2:p.Glu308Lys
32/10521 0.00152 3 non_synonymous Uncertain Significance
View 6 129762003 129762003 A > G LAMA2 ENST00000421865.2:c.6128A>G
ENSP00000400365.2:p.Gln2043Arg
5/10521 0.00024 3 non_synonymous Uncertain Significance
View 6 129762036 129762036 A > G LAMA2 ENST00000421865.2:c.6161A>G
ENSP00000400365.2:p.Gln2054Arg
30/10521 0.00143 3 non_synonymous Uncertain Significance
View 6 129762070 129762072 GAA > - LAMA2 ENST00000421865.2:c.6201_6203del
ENSP00000400365.2:p.Lys2067del
1/10521 5.0e-05 3 in_frame_indel Uncertain Significance
View 6 129762148 129762148 G > C LAMA2 ENST00000421865.2:c.6268+5G>C
16/10521 0.00076 3 five_prime_flank Uncertain Significance
View 6 129833653 129833653 T > C LAMA2 ENST00000421865.2:c.8988+15T>C
6/10482 0.00029 3 five_prime_intronic Uncertain Significance
View 6 135732616 135732616 T > C AHI1 AHI1 AHI1 AHI1 NM_001134832.1:c.2831A>G
NM_001134831.1:c.2831A>G
NM_017651.4:c.2831A>G
NM_001134830.1:c.2831A>G
NP_001128304.1:p.Gln944Arg
NP_001128303.1:p.Gln944Arg
NP_060121.3:p.Gln944Arg
NP_001128302.1:p.Gln944Arg
4/10521 0.00019 3 non_synonymous Uncertain Significance
View 6 135763829 135763829 G > T AHI1 AHI1 AHI1 AHI1 NM_001134832.1:c.1803C>A
NM_001134831.1:c.1803C>A
NM_017651.4:c.1803C>A
NM_001134830.1:c.1803C>A
NP_001128304.1:p.His601Gln
NP_001128303.1:p.His601Gln
NP_060121.3:p.His601Gln
NP_001128302.1:p.His601Gln
1/10521 5.0e-05 3 non_synonymous Uncertain Significance
View 6 135787048 135787048 T > C AHI1 AHI1 AHI1 AHI1 NM_001134832.1:c.653A>G
NM_001134831.1:c.653A>G
NM_017651.4:c.653A>G
NM_001134830.1:c.653A>G
NP_001128304.1:p.Tyr218Cys
NP_001128303.1:p.Tyr218Cys
NP_060121.3:p.Tyr218Cys
NP_001128302.1:p.Tyr218Cys
4/10521 0.00019 3 Uncertain Significance
View 6 135818325 135818325 C > A AHI1 AHI1 AHI1 AHI1 NM_001134832.1:c.-55+1G>T
NM_001134831.1:c.-140+1G>T
NM_017651.4:c.-55+1G>T
NM_001134830.1:c.-55+396G>T
6/4656 0.00064 3 donor_site Uncertain Significance
View 6 145948812 145948812 G > A EPM2A EPM2A NM_001018041.1:c.736C>T
NM_005670.3:c.736C>T
NP_001018051.1:p.Pro246Ser
NP_005661.1:p.Pro246Ser
3/10521 0.00014 3 non_synonymous Uncertain Significance
View 6 146056487 146056487 C > T EPM2A LOC100507557 EPM2A NM_001018041.1:c.148G>A
NR_038246.1:n.52+431C>T
NM_005670.3:c.148G>A
NP_001018051.1:p.Gly50Arg
NP_005661.1:p.Gly50Arg
13/10521 0.00067 3 non_synonymous Uncertain Significance
View 6 146755387 146755387 C > T GRM1 GRM1 GRM1 GRM1 NM_001278067.1:c.*278C>T
NM_001278066.1:c.*369C>T
NM_001278065.1:c.*404C>T
NM_001278064.1:c.3040C>T
NP_001264993.1:p.Pro1014Ser
1/8685 6.0e-05 3 Uncertain Significance
View 6 146755525 146755525 A > G GRM1 GRM1 GRM1 GRM1 NM_001278067.1:c.*416A>G
NM_001278066.1:c.*507A>G
NM_001278065.1:c.*542A>G
NM_001278064.1:c.3178A>G
NP_001264993.1:p.Asn1060Asp
3/8685 0.00017 3 non_synonymous Uncertain Significance
View 6 151754311 151754311 G > A RMND1 RMND1 NM_001271937.1:c.158C>T
NM_017909.3:c.668C>T
NP_001258866.1:p.Pro53Leu
NP_060379.2:p.Pro223Leu
6/8685 0.00035 3 non_synonymous Uncertain Significance
View 6 157099260 157099260 A > G ARID1B ARID1B NM_017519.2:c.197A>G
NM_020732.3:c.197A>G
NP_059989.2:p.Asn66Ser
NP_065783.3:p.Asn66Ser
6/8685 0.00035 3 non_synonymous Uncertain Significance
View 6 157099715 157099715 C > G ARID1B ARID1B NM_017519.2:c.652C>G
NM_020732.3:c.652C>G
NP_059989.2:p.Pro218Ala
NP_065783.3:p.Pro218Ala
5/8685 0.00029 3 non_synonymous Uncertain Significance
View 6 157099982 157099993 GGCGGCGGCGGC > - ARID1B ARID1B NM_017519.2:c.933_944del
NM_020732.3:c.933_944del
NP_059989.2:p.Gly316_Gly319del
NP_065783.3:p.Gly316_Gly319del
4/8685 0.00023 3 in_frame_indel Uncertain Significance
View 6 157100104 157100105 - > GCA ARID1B ARID1B NM_017519.2:c.1049_1051dupCAG
NM_020732.3:c.1049_1051dupCAG
NP_059989.2:p.Ala350dup
NP_065783.3:p.Ala350dup
10/8685 0.00058 4 in_frame_indel Uncertain Significance
View 6 157100116 157100117 - > GGC ARID1B ARID1B NM_017519.2:c.1069_1071dupGGC
NM_020732.3:c.1069_1071dupGGC
NP_059989.2:p.Gly357dup
NP_065783.3:p.Gly357dup
17/8685 0.00098 3 in_frame_indel Uncertain Significance
View 6 158589433 158589433 T > G GTF2H5 NM_207118.2:c.-35+6T>G
1/4656 0.00011 3 five_prime_flank Uncertain Significance
View 6 162394349 162394349 G > A PRKN PRKN PRKN NM_013988.2:c.272C>T
NM_013987.2:c.635C>T
NM_004562.2:c.719C>T
NP_054643.2:p.Thr91Met
NP_054642.2:p.Thr212Met
NP_004553.2:p.Thr240Met
3/8685 0.00017 3 Uncertain Significance
View 6 165829670 165829670 T > C PDE10A PDE10A NM_001130690.2:c.1091+7A>G
NR_045597.1:n.1306+7A>G
1/8685 6.0e-05 3 five_prime_intronic Uncertain Significance
View 6 170159119 170159119 T > C ERMARD ERMARD ERMARD ERMARD NM_018341.2:c.563T>C
NM_001278531.1:c.563T>C
NM_001278532.1:c.185T>C
NM_001278533.1:c.563T>C
NP_060811.1:p.Val188Ala
NP_001265460.1:p.Val188Ala
NP_001265461.1:p.Val62Ala
NP_001265462.1:p.Val188Ala
8/8685 0.00046 3 non_synonymous Uncertain Significance
View 6 170169738 170169738 A > G ERMARD ERMARD ERMARD ERMARD NM_018341.2:c.1162A>G
NM_001278531.1:c.1162A>G
NM_001278532.1:c.784A>G
NM_001278533.1:c.1162A>G
NP_060811.1:p.Asn388Asp
NP_001265460.1:p.Asn388Asp
NP_001265461.1:p.Asn262Asp
NP_001265462.1:p.Asn388Asp
56/8685 0.00322 3 non_synonymous Uncertain Significance
View 7 193451 193451 C > A FAM20C NM_020223.3:c.252C>A
NP_064608.2:p.Asn84Lys
12/10521 0.00067 3 non_synonymous Uncertain Significance
View 7 2578128 2578128 C > T BRAT1 NM_152743.3:c.2041G>A
NP_689956.2:p.Glu681Lys
14/8685 0.00081 3 non_synonymous Uncertain Significance
View 7 2578290 2578290 C > T BRAT1 NM_152743.3:c.1879G>A
NP_689956.2:p.Ala627Thr
5/8685 0.00029 3 non_synonymous Uncertain Significance
View 7 2579228 2579228 A > G BRAT1 NM_152743.3:c.1547T>C
NP_689956.2:p.Val516Ala
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 7 19156851 19156851 C > T TWIST1 NM_000474.3:c.94G>A
NP_000465.1:p.Gly32Ser
30/8685 0.00173 3 Uncertain Significance
View 7 21628196 21628196 C > T DNAH11 NM_001277115.1:c.1915C>T
NP_001264044.1:p.Gln639Ter
4/8685 0.00023 3 premature_stop Uncertain Significance
View 7 21639556 21639556 C > T DNAH11 NM_001277115.1:c.2819C>T
NP_001264044.1:p.Pro940Leu
4/8685 0.00023 3 non_synonymous Uncertain Significance
View 7 21784180 21784180 A > G DNAH11 NM_001277115.1:c.8279A>G
NP_001264044.1:p.Gln2760Arg
9/8685 0.00052 3 non_synonymous Uncertain Significance
View 7 21784506 21784506 C > A DNAH11 NM_001277115.1:c.8335C>A
NP_001264044.1:p.Leu2779Met
3/8685 0.00017 3 non_synonymous Uncertain Significance
View 7 23017919 23017919 A > G FAM126A NM_032581.3:c.302T>C
NP_115970.2:p.Ile101Thr
2/10521 0.0001 3 non_synonymous Uncertain Significance
View 7 33312657 33312657 C > T BBS9 BBS9 BBS9 BBS9 NM_014451.3:c.736C>T
NM_198428.2:c.736C>T
NM_001033605.1:c.736C>T
NM_001033604.1:c.736C>T
NP_055266.2:p.Leu246Phe
NP_940820.1:p.Leu246Phe
NP_001028777.1:p.Leu246Phe
NP_001028776.1:p.Leu246Phe
6/8685 0.00035 3 non_synonymous Uncertain Significance
View 7 33573603 33573603 T > A BBS9 BBS9 BBS9 BBS9 NM_014451.3:c.2216T>A
NM_198428.2:c.2336T>A
NM_001033605.1:c.2321T>A
NM_001033604.1:c.2231T>A
NP_055266.2:p.Leu739Gln
NP_940820.1:p.Leu779Gln
NP_001028777.1:p.Leu774Gln
NP_001028776.1:p.Leu744Gln
12/8685 0.00069 3 Uncertain Significance
View 7 33573701 33573701 A > T BBS9 BBS9 BBS9 BBS9 NM_014451.3:c.2314A>T
NM_198428.2:c.2434A>T
NM_001033605.1:c.2419A>T
NM_001033604.1:c.2329A>T
NP_055266.2:p.Ile772Phe
NP_940820.1:p.Ile812Phe
NP_001028777.1:p.Ile807Phe
NP_001028776.1:p.Ile777Phe
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 7 33644596 33644596 C > A BBS9 BBS9 BBS9 BBS9 NM_014451.3:c.2512+9C>A
NM_198428.2:c.2632+9C>A
NM_001033605.1:c.2617+9C>A
NM_001033604.1:c.2527+9C>A
13/8685 0.00081 3 five_prime_intronic Uncertain Significance
View 7 33946413 33946413 T > C BMPER NM_133468.4:c.134-17T>C
1/8646 6.0e-05 3 three_prime_flank Uncertain Significance
View 7 35280519 35280519 G > C TBX20 TBX20 NM_001166220.1:c.785C>G
NM_001077653.2:c.785C>G
NP_001159692.1:p.Thr262Arg
NP_001071121.1:p.Thr262Arg
1/8685 6.0e-05 1 Uncertain Significance
View 7 39990577 39990577 C > T CDK13 CDK13 NM_003718.4:c.337C>T
NM_031267.3:c.337C>T
NP_003709.3:p.Gln113Ter
NP_112557.2:p.Gln113Ter
2/8646 0.00012 3 premature_stop Uncertain Significance
View 7 40134485 40134485 C > G CDK13 CDK13 NM_003718.4:c.4445C>G
NM_031267.3:c.4265C>G
NP_003709.3:p.Thr1482Ser
NP_112557.2:p.Thr1422Ser
1/8646 6.0e-05 3 non_synonymous Uncertain Significance
View 7 50611663 50611663 G > T DDC DDC DDC DDC DDC ENST00000426377.1:c.121C>A
ENST00000431062.1:c.121C>A
ENST00000380984.4:c.121C>A
ENST00000357936.5:c.121C>A
ENST00000444124.2:c.121C>A
ENSP00000395069.1:p.Leu41Met
ENSP00000399184.1:p.Leu41Met
ENSP00000370371.4:p.Leu41Met
ENSP00000350616.5:p.Leu41Met
ENSP00000403644.2:p.Leu41Met
2/10521 0.0001 3 non_synonymous Uncertain Significance
View 7 65551777 65551777 C > T ASL ASL ASL ASL NM_000048.3:c.571C>T
NM_001024943.1:c.571C>T
NM_001024944.1:c.571C>T
NM_001024946.1:c.524+128C>T
NP_000039.2:p.Arg191Trp
NP_001020114.1:p.Arg191Trp
NP_001020115.1:p.Arg191Trp
2/10521 0.0001 3 Uncertain Significance
View 7 65557849 65557849 G > A ASL ASL ASL ASL NM_000048.3:c.1345G>A
NM_001024943.1:c.1345G>A
NM_001024944.1:c.1285G>A
NM_001024946.1:c.1267G>A
NP_000039.2:p.Asp449Asn
NP_001020114.1:p.Asp449Asn
NP_001020115.1:p.Asp429Asn
NP_001020117.1:p.Asp423Asn
3/10521 0.00014 3 non_synonymous Uncertain Significance
View 7 70255500 70255500 C > G AUTS2 AUTS2 NM_001127231.1:c.3226C>G
NM_015570.2:c.3298C>G
NP_001120703.1:p.Pro1076Ala
NP_056385.1:p.Pro1100Ala
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 7 72861629 72861630 - > C BAZ1B NM_032408.3:c.3808dupG
NP_115784.1:p.Glu1270GlyfsTer7
1/8685 6.0e-05 2 frameshift Uncertain Significance
View 7 73480318 73480318 C > T ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN NM_001278918.1:c.1765+256C>T
NM_001278917.1:c.2047C>T
NM_001278939.1:c.2263C>T
NM_000501.3:c.2077C>T
NM_001081755.2:c.2020C>T
NM_001278912.1:c.2032+256C>T
NM_001081754.2:c.2047+256C>T
NM_001081753.2:c.1990+256C>T
NM_001081752.2:c.1945+256C>T
NM_001278916.1:c.1888+256C>T
NM_001278915.1:c.2095C>T
NM_001278914.1:c.2005C>T
NM_001278913.1:c.1834C>T
NP_001265846.1:p.Pro683Ser
NP_001265868.1:p.Pro755Ser
NP_000492.2:p.Pro693Ser
NP_001075224.1:p.Pro674Ser
NP_001265844.1:p.Pro699Ser
NP_001265843.1:p.Pro669Ser
NP_001265842.1:p.Pro612Ser
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 7 75695627 75695627 G > A MDH2 NM_005918.2:c.916G>A
NP_005909.2:p.Gly306Ser
7/8685 0.0004 3 non_synonymous Uncertain Significance
Displaying 1,050 through 1,100 of 1,329 variants