Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 10 89622108 89622108 A > C KLLN NM_001126049.1:c.137T>G
NP_001119521.1:p.Phe46Cys
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 10 95422384 95422384 G > T PDE6C NM_006204.3:c.2351G>T
NP_006195.3:p.Cys784Phe
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 10 95930939 95930939 C > T PLCE1 PLCE1 NM_016341.3:c.1495C>T
NM_001165979.1:c.571C>T
NP_057425.3:p.Arg499Cys
NP_001159451.1:p.Arg191Cys
64/14969 0.00217 3 curation Uncertain Significance
View 10 97371177 97371177 T > C ALDH18A1 ALDH18A1 NM_001017423.1:c.1940A>G
NM_002860.3:c.1946A>G
NP_001017423.1:p.Lys647Arg
NP_002851.2:p.Lys649Arg
6/13144 0.00023 3 non_synonymous Uncertain Significance
View 10 97442464 97442464 C > G TCTN3 TCTN3 NM_015631.5:c.1396G>C
NM_001143973.1:c.952G>C
NP_056446.4:p.Asp466His
NP_001137445.1:p.Asp318His
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 10 97453207 97453207 T > G TCTN3 TCTN3 NM_015631.5:c.283A>C
NM_001143973.1:c.283A>C
NP_056446.4:p.Thr95Pro
NP_001137445.1:p.Thr95Pro
4/13144 0.00015 3 curation Uncertain Significance
View 10 99079938 99079938 C > T FRAT1 NM_005479.3:c.728C>T
NP_005470.2:p.Pro243Leu
6/13105 0.00023 3 non_synonymous Uncertain Significance
View 10 99502913 99502916 TGAA > - ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 NM_001174119.1:c.173-1570_173-1567del
NM_144588.6:c.263_266del
NM_001174122.1:c.197+4485_197+4488del
NM_001002261.3:c.263_266del
NM_001174121.1:c.-26-1570_-26-1567del
NM_001002262.3:c.263_266del
NM_001174120.1:c.197+4485_197+4488del
NP_653189.3:p.Asn88ArgfsTer7
NP_001002261.1:p.Asn88ArgfsTer7
NP_001002262.1:p.Asn88ArgfsTer7
3/13144 0.00011 1 Uncertain Significance
View 10 102749544 102749544 C > G TWNK TWNK TWNK TWNK NM_001163813.1:c.25C>G
NM_001163814.1:c.25C>G
NM_001163812.1:c.1387C>G
NM_021830.4:c.1387C>G
NP_001157285.1:p.Arg9Gly
NP_001157286.1:p.Arg9Gly
NP_001157284.1:p.Arg463Gly
NP_068602.2:p.Arg463Gly
3/14969 0.0001 3 curation Uncertain Significance
View 10 103534548 103534548 T > G FGF8 FGF8 FGF8 FGF8 FGF8 NM_033163.3:c.278A>C
NM_006119.4:c.191A>C
NM_033165.3:c.158A>C
NM_033164.3:c.245A>C
NM_001206389.1:c.-35A>C
NP_149353.1:p.His93Pro
NP_006110.1:p.His64Pro
NP_149355.1:p.His53Pro
NP_149354.1:p.His82Pro
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 10 104161598 104161598 G > A NFKB2 NFKB2 NFKB2 NR_048560.1:n.2953G>A
ENST00000369966.3:c.2390G>A
ENST00000189444.6:c.2390G>A
ENSP00000358983.3:p.Arg797His
ENSP00000189444.6:p.Arg797His
4/13144 0.00015 3 non_synonymous Uncertain Significance
View 10 111893356 111893358 AAG > - ADD3 ADD3 ADD3 NM_001121.2:c.2005_2007del
NM_019903.3:c.2005_2007del
NM_016824.3:c.2101_2103del
NP_001112.2:p.Lys669del
NP_063968.1:p.Lys669del
NP_058432.1:p.Lys701del
2/13105 8.0e-05 3 in_frame_indel Uncertain Significance
View 10 111893374 111893377 TAAA > - ADD3 ADD3 ADD3 NM_001121.2:c.*2_*5del
NM_019903.3:c.*2_*5del
NM_016824.3:c.*2_*5del
10/13105 0.00038 3 curation Uncertain Significance
View 10 112660264 112660265 - > ATC BBIP1 BBIP1 BBIP1 BBIP1 BBIP1 NM_001195305.1:c.130_132dupGAT
NM_001195304.1:c.287_289dupGAT
NM_001195307.1:c.55_57dupGAT
NM_001243783.1:c.64_66dupGAT
NM_001195306.1:c.130_132dupGAT
NP_001182234.1:p.Asp44dup
NP_001182233.1:p.Arg96_Tyr97insTer
NP_001182236.1:p.Asp19dup
NP_001230712.1:p.Asp22dup
NP_001182235.1:p.Asp44dup
2/13144 8.0e-05 3 premature_stop Uncertain Significance
View 10 122668224 122668224 G > T WDR11 NM_018117.11:c.3674G>T
NP_060587.8:p.Ter1225LeuextTer9
1/13144 4.0e-05 2 disruption_of_stop Uncertain Significance
View 10 123274641 123274641 C > T FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.1727G>A
NM_001144913.1:c.1280G>A
NM_001144914.1:c.941G>A
NM_000141.4:c.1277G>A
NM_023029.2:c.1010G>A
NM_001144919.1:c.1013G>A
NM_001144915.1:c.1010G>A
NM_001144916.1:c.932G>A
NM_001144917.1:c.939+4852G>A
NM_022970.3:c.1280G>A
NM_001144918.1:c.932G>A
NP_001138385.1:p.Arg427Lys
NP_001138386.1:p.Arg314Lys
NP_000132.3:p.Arg426Lys
NP_075418.1:p.Arg337Lys
NP_001138391.1:p.Arg338Lys
NP_001138387.1:p.Arg337Lys
NP_001138388.1:p.Arg311Lys
NP_075259.4:p.Arg427Lys
NP_001138390.1:p.Arg311Lys
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 10 123353232 123353232 C > G FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.747G>C
NM_001144913.1:c.100G>C
NM_001144914.1:c.100G>C
NM_000141.4:c.100G>C
NM_023029.2:c.100G>C
NM_001144919.1:c.100G>C
NM_001144915.1:c.100G>C
NM_001144916.1:c.100G>C
NM_001144917.1:c.100G>C
NM_022970.3:c.100G>C
NM_001144918.1:c.100G>C
NP_001138385.1:p.Glu34Gln
NP_001138386.1:p.Glu34Gln
NP_000132.3:p.Glu34Gln
NP_075418.1:p.Glu34Gln
NP_001138391.1:p.Glu34Gln
NP_001138387.1:p.Glu34Gln
NP_001138388.1:p.Glu34Gln
NP_001138389.1:p.Glu34Gln
NP_075259.4:p.Glu34Gln
NP_001138390.1:p.Glu34Gln
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 10 124812634 124812634 A > G ACADSB NM_001609.3:c.1186A>G
NP_001600.1:p.Lys396Glu
5/13144 0.00019 1 Uncertain Significance
View 10 135186831 135186831 C > T ECHS1 NM_004092.3:c.7G>A
NP_004083.3:p.Ala3Thr
7/13144 0.00027 3 non_synonymous Uncertain Significance
View 11 375711 375711 C > T B4GALNT4 NM_178537.4:c.923C>T
NP_848632.2:p.Pro308Leu
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 11 654011 654011 C > T DEAF1 NM_021008.2:c.1544G>A
NP_066288.2:p.Cys515Tyr
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 11 686935 686935 T > C DEAF1 NM_021008.2:c.727A>G
NP_066288.2:p.Met243Val
111/13144 0.00422 3 non_synonymous Uncertain Significance
View 11 824794 824794 G > C PNPLA2 NM_020376.3:c.1447G>C
NP_065109.1:p.Gly483Arg
14/13144 0.00053 3 curation Uncertain Significance
View 11 1780857 1780857 C > A CTSD NM_001909.4:c.241G>T
NP_001900.1:p.Gly81Trp
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View 11 1861852 1861852 C > T TNNI2 TNNI2 TNNI2 NM_001145829.1:c.152C>T
NM_001145841.1:c.152C>T
NM_003282.3:c.152C>T
NP_001139301.1:p.Pro51Leu
NP_001139313.1:p.Pro51Leu
NP_003273.1:p.Pro51Leu
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 11 2610045 2610045 C > T KCNQ1 KCNQ1 NM_000218.2:c.1354C>T
NR_040711.2:n.1247C>T
NP_000209.2:p.Arg452Trp
2/13144 8.0e-05 3 curation Uncertain Significance
View 11 3846253 3846253 C > T PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 NM_014489.3:c.712C>T
NR_027016.2:n.480C>T
NM_001256240.1:c.529C>T
NR_045923.1:n.550C>T
NR_045925.1:n.460C>T
NR_045927.1:n.629C>T
NR_045926.1:n.472C>T
NR_045929.1:n.596C>T
NM_001145438.2:c.688C>T
NM_001256238.1:c.602C>T
NM_001256239.1:c.517C>T
NM_001256235.1:c.583C>T
NM_001256236.1:c.883C>T
NM_001256237.1:c.779C>T
NR_027018.2:n.677C>T
NR_027017.2:n.1012C>T
NP_055304.1:p.Arg238Cys
NP_001243169.1:p.Arg177Cys
NP_001138910.1:p.Arg230Cys
NP_001243167.1:p.Ser201Leu
NP_001243168.1:p.Arg173Cys
NP_001243164.1:p.Arg195Cys
NP_001243165.1:p.Arg295Cys
NP_001243166.1:p.Ser260Leu
14/13144 0.00053 3 non_synonymous Uncertain Significance
View 11 4112541 4112541 C > T STIM1 STIM1 STIM1 NM_003156.3:c.1571C>T
NM_001277962.1:c.1608C>T
NM_001277961.1:c.1889C>T
NP_003147.2:p.Ser524Phe
NP_001264891.1:p.Leu536=
NP_001264890.1:p.Ser630Phe
69/14969 0.0023 3 non_synonymous Uncertain Significance
View 11 4130896 4130896 A > G RRM1 NM_001033.3:c.410A>G
NP_001024.1:p.Tyr137Cys
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 11 5255650 5255650 G > A HBD NM_000519.3:c.14C>T
NP_000510.1:p.Thr5Ile
40/13145 0.00152 3 Uncertain Significance
View 11 6411836 6411836 G > A SMPD1 SMPD1 NM_000543.4:c.8G>A
NM_001007593.2:c.8G>A
NP_000534.3:p.Arg3His
NP_001007594.2:p.Arg3His
23/14969 0.00077 3 Uncertain Significance
View 11 6415259 6415259 G > A SMPD1 SMPD1 NM_000543.4:c.1474G>A
NM_001007593.2:c.1471G>A
NP_000534.3:p.Gly492Ser
NP_001007594.2:p.Gly491Ser
24/14969 0.0008 1 Uncertain Significance
View 11 6415539 6415539 C > T SMPD1 SMPD1 NM_000543.4:c.1598C>T
NM_001007593.2:c.1595C>T
NP_000534.3:p.Pro533Leu
NP_001007594.2:p.Pro532Leu
2/14969 7.0e-05 3 curation Uncertain Significance
View 11 6640618 6640618 G > T TPP1 NM_000391.3:c.14C>A
NP_000382.3:p.Ala5Asp
28/14969 0.00097 3 non_synonymous Uncertain Significance
View 11 6645388 6645388 T > C DCHS1 ENST00000299441.3:c.7519A>G
ENSP00000299441.3:p.Thr2507Ala
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 11 6651470 6651470 G > A DCHS1 ENST00000299441.3:c.4555C>T
ENSP00000299441.3:p.Pro1519Ser
47/13144 0.00179 1 Uncertain Significance
View 11 6661299 6661299 C > T DCHS1 ENST00000299441.3:c.1546G>A
ENSP00000299441.3:p.Ala516Thr
16/13144 0.00061 3 non_synonymous Uncertain Significance
View 11 6661742 6661742 C > T DCHS1 ENST00000299441.3:c.1103G>A
ENSP00000299441.3:p.Ser368Asn
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 11 8016868 8016868 A > G EIF3F NM_003754.2:c.950A>G
NP_003745.1:p.Lys317Arg
1/13105 4.0e-05 3 non_synonymous Uncertain Significance
View 11 9200585 9200585 A > T DENND5A DENND5A NM_015213.3:c.1491T>A
NM_001243254.1:c.1491T>A
NP_056028.2:p.Asp497Glu
NP_001230183.1:p.Asp497Glu
12/13144 0.00046 3 non_synonymous Uncertain Significance
View 11 17415289 17415289 C > A ABCC8 NM_000352.3:c.4563G>T
NP_000343.2:p.Lys1521Asn
16/15408 0.00052 3 curation Uncertain Significance
View 11 17418874 17418874 G > C ABCC8 NM_000352.3:c.3868-14C>G
2/13771 7.0e-05 3 polypyrimidine_tract Uncertain Significance
View 11 17519789 17519789 C > T USH1C USH1C NM_153676.3:c.2410G>A
NM_005709.3:c.1510G>A
NP_710142.1:p.Ala804Thr
NP_005700.2:p.Ala504Thr
4/14969 0.00013 3 curation Uncertain Significance
View 11 17580151 17580151 C > T OTOG NM_001277269.1:c.1099C>T
NP_001264198.1:p.Pro367Ser
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 11 17627538 17627538 C > T OTOG NM_001277269.1:c.4048C>T
NP_001264198.1:p.Arg1350Trp
9/13144 0.00034 3 non_synonymous Uncertain Significance
View 11 17632921 17632921 C > T OTOG NM_001277269.1:c.6110C>T
NP_001264198.1:p.Ala2037Val
39/13144 0.00148 3 non_synonymous Uncertain Significance
View 11 17667402 17667402 C > T OTOG NM_001277269.1:c.8689C>T
NP_001264198.1:p.Arg2897Cys
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
View 11 18309531 18309531 C > T HPS5 HPS5 HPS5 NM_007216.3:c.2128G>A
NM_181507.1:c.2470G>A
NM_181508.1:c.2128G>A
NP_009147.3:p.Glu710Lys
NP_852608.1:p.Glu824Lys
NP_852609.1:p.Glu710Lys
2/13144 0.00011 3 non_synonymous Uncertain Significance
View 11 19259407 19259407 A > T E2F8 E2F8 E2F8 NM_001256372.1:c.288T>A
NM_001256371.1:c.288T>A
NM_024680.3:c.288T>A
NP_001243301.1:p.Cys96Ter
NP_001243300.1:p.Cys96Ter
NP_078956.2:p.Cys96Ter
1/13105 4.0e-05 2 premature_stop Uncertain Significance
View 11 20136277 20136277 C > - NAV2 NAV2 NAV2 NAV2 NAV2 NM_001111019.2:c.4293del
ENST00000360655.4:c.6909del
ENST00000396085.1:c.7110del
ENST00000349880.4:c.7101del
ENST00000396087.3:c.7278del
NP_001104489.1:p.Met1432CysfsTer21
ENSP00000353871.4:p.Met2304CysfsTer21
ENSP00000379394.1:p.Met2371CysfsTer21
ENSP00000309577.6:p.Met2368CysfsTer21
ENSP00000379396.3:p.Met2427CysfsTer21
1/13144 4.0e-05 2 frameshift Uncertain Significance
Displaying 200 through 250 of 2,237 variants