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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 13 20763582 20763582 C > A GJB2 NM_004004.5:c.139G>T
NP_003995.2:p.Glu47Ter
8/14969 0.00027 1 Pathogenic
View 13 20763612 20763612 C > T GJB2 NM_004004.5:c.109G>A
NP_003995.2:p.Val37Ile
76/14969 0.00264 1 Pathogenic
View 13 20763620 20763620 A > G GJB2 NM_004004.5:c.101T>C
NP_003995.2:p.Met34Thr
300/14969 0.01012 1 Pathogenic
View 13 20763650 20763650 C > T GJB2 NM_004004.5:c.71G>A
NP_003995.2:p.Trp24Ter
4/14969 0.00013 1 Pathogenic
View 13 20763686 20763686 C > - GJB2 NM_004004.5:c.35del
NP_003995.2:p.Gly12ValfsTer2
276/14969 0.00939 1 Pathogenic
View 13 20763686 20763686 C > A GJB2 NM_004004.5:c.35G>T
NP_003995.2:p.Gly12Val
2/14969 7.0e-05 1 Pathogenic
View 13 28494458 28494458 C > - PDX1 NM_000209.3:c.188del
NP_000200.1:p.Pro63ArgfsTer60
3/13144 0.00011 1 Pathogenic
View 13 31843415 31843415 G > A B3GLCT NM_194318.3:c.660+1G>A
23/11986 0.00096 1 Pathogenic
View 13 31891702 31891702 G > C B3GLCT NM_194318.3:c.1065-1G>C
3/11983 0.00013 1 Pathogenic
View 13 31891772 31891772 C > A B3GLCT NM_194318.3:c.1134C>A
NP_919299.3:p.Tyr378Ter
2/13144 8.0e-05 1 premature_stop Pathogenic
View 13 32903605 32903606 TG > - BRCA2 ENST00000380152.3:c.658_659del
ENSP00000369497.3:p.Val220IlefsTer4
1/13144 4.0e-05 1 Pathogenic
View 13 32937506 32937506 G > C BRCA2 ENST00000380152.3:c.8167G>C
ENSP00000369497.3:p.Asp2723His
4/13144 0.00015 1 Pathogenic
View 13 36903553 36903553 T > - SPART SPART SPART SPART NM_001142295.1:c.1110del
NM_001142294.1:c.1110del
NM_015087.4:c.1110del
NM_001142296.1:c.1110del
NP_001135767.1:p.Lys370AsnfsTer30
NP_001135766.1:p.Lys370AsnfsTer30
NP_055902.1:p.Lys370AsnfsTer30
NP_001135768.1:p.Lys370AsnfsTer30
2/13144 8.0e-05 1 Pathogenic
View 13 37583420 37583420 G > C EXOSC8 NM_181503.2:c.815G>C
NP_852480.1:p.Ser272Thr
130/13144 0.00495 1 Pathogenic
View 13 41381515 41381515 G > A TPTE2P5 TPTE2P5 SLC25A15 NR_038259.1:n.452-6655C>T
NR_038258.1:n.623-6655C>T
NM_014252.3:c.538G>A
NP_055067.1:p.Glu180Lys
2/14969 7.0e-05 1 Pathogenic
View 13 51519581 51519581 G > A RNASEH2B RNASEH2B NM_001142279.2:c.529G>A
NM_024570.3:c.529G>A
NP_001135751.1:p.Ala177Thr
NP_078846.2:p.Ala177Thr
67/14969 0.00227 1 Pathogenic
View 13 101844287 101844287 T > C NALCN NM_052867.2:c.1745A>G
NP_443099.1:p.Tyr582Cys
1/13144 4.0e-05 1 Pathogenic
View 13 108861177 108861177 G > A LIG4 LIG4 LIG4 NM_002312.3:c.2440C>T
NM_001098268.1:c.2440C>T
NM_206937.1:c.2440C>T
NP_002303.2:p.Arg814Ter
NP_001091738.1:p.Arg814Ter
NP_996820.1:p.Arg814Ter
8/14969 0.00027 1 Pathogenic
View 13 108861713 108861713 T > - LIG4 LIG4 LIG4 NM_002312.3:c.1904del
NM_001098268.1:c.1904del
NM_206937.1:c.1904del
NP_002303.2:p.Lys635ArgfsTer10
NP_001091738.1:p.Lys635ArgfsTer10
NP_996820.1:p.Lys635ArgfsTer10
3/14969 0.0001 1 Pathogenic
View 13 108861879 108861879 G > A LIG4 LIG4 LIG4 NM_002312.3:c.1738C>T
NM_001098268.1:c.1738C>T
NM_206937.1:c.1738C>T
NP_002303.2:p.Arg580Ter
NP_001091738.1:p.Arg580Ter
NP_996820.1:p.Arg580Ter
6/14969 0.0002 1 Pathogenic
View 13 113803580 113803580 G > A F10 NM_000504.3:c.1216G>A
NP_000495.1:p.Gly406Ser
2/13144 8.0e-05 1 Pathogenic
View 13 115091444 115091444 T > G CHAMP1 CHAMP1 CHAMP1 NM_032436.2:c.2127T>G
NM_001164145.1:c.2127T>G
NM_001164144.1:c.2127T>G
NP_115812.1:p.Tyr709Ter
NP_001157617.1:p.Tyr709Ter
NP_001157616.1:p.Tyr709Ter
1/13144 4.0e-05 1 curation Pathogenic
View 14 23899016 23899016 C > T MYH7 NM_000257.2:c.1106G>A
NP_000248.2:p.Arg369Gln
1/13144 4.0e-05 1 Pathogenic
View 14 24550680 24550680 A > G NRL NM_006177.3:c.479T>C
NP_006168.1:p.Leu160Pro
5/13144 0.00019 1 Pathogenic
View 14 24729019 24729019 T > C TGM1 NM_000359.2:c.877-2A>G
17/13811 0.00062 1 Pathogenic
View 14 24729150 24729150 C > T TGM1 NM_000359.2:c.872G>A
NP_000350.1:p.Gly291Asp
2/14969 7.0e-05 1 Pathogenic
View 14 24729165 24729165 C > T TGM1 NM_000359.2:c.857G>A
NP_000350.1:p.Arg286Gln
1/14969 3.0e-05 1 Pathogenic
View 14 24730982 24730982 G > A TGM1 NM_000359.2:c.427C>T
NP_000350.1:p.Arg143Cys
3/14969 0.0001 1 Pathogenic
View 14 29237285 29237285 G > A FOXG1 NM_005249.4:c.800G>A
NP_005240.3:p.Gly267Asp
1/13843 4.0e-05 1 curation Pathogenic
View 14 50628269 50628269 G > C SOS2 NM_006939.2:c.1127C>G
NP_008870.2:p.Thr376Ser
1/13144 4.0e-05 1 Pathogenic
View 14 50768850 50768850 T > C L2HGDH NM_024884.2:c.293A>G
NP_079160.1:p.His98Arg
2/13144 8.0e-05 1 Pathogenic
View 14 58899157 58899157 G > - KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 NM_014749.3:c.392del
NM_001244189.1:c.428del
NM_001244190.1:c.347del
NM_001244191.1:c.137del
NM_001244192.1:c.137del
NP_055564.3:p.Arg131LysfsTer4
NP_001231118.1:p.Arg143LysfsTer4
NP_001231119.1:p.Arg116LysfsTer4
NP_001231120.1:p.Arg46LysfsTer4
NP_001231121.1:p.Arg46LysfsTer4
103/13105 0.00397 1 Pathogenic
View 14 58923419 58923419 G > C KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 NM_014749.3:c.1254-1G>C
NM_001244189.1:c.1413-1G>C
NM_001244190.1:c.1209-1G>C
NM_001244191.1:c.999-1G>C
NM_001244192.1:c.1122-1G>C
NM_001244193.1:c.834-1G>C
7/11944 0.00029 1 Pathogenic
View 14 61446301 61446304 TATT > - TRMT5 NM_020810.2:c.312_315del
NP_065861.2:p.Ile105SerfsTer4
25/13105 0.00095 1 Pathogenic
View 14 68191923 68191923 C > A RDH12 NM_152443.2:c.295C>A
NP_689656.2:p.Leu99Ile
2/13144 8.0e-05 1 Pathogenic
View 14 76429687 76429687 G > A TGFB3 NM_003239.2:c.898C>T
NP_003230.1:p.Arg300Trp
2/13144 8.0e-05 1 Pathogenic
View 14 81610039 81610039 G > A TSHR NM_000369.2:c.1637G>A
NP_000360.2:p.Trp546Ter
6/13144 0.00023 1 Pathogenic
View 14 88431926 88431926 T > C GALC GALC ENST00000261304.2:c.956A>G
ENST00000393569.2:c.878A>G
ENSP00000261304.2:p.Tyr319Cys
ENSP00000377199.2:p.Tyr293Cys
11/14969 0.00037 1 Pathogenic
View 14 88442826 88442826 T > A GALC GALC ENST00000261304.2:c.628A>T
ENST00000393569.2:c.550A>T
ENSP00000261304.2:p.Arg210Ter
ENSP00000377199.2:p.Arg184Ter
1/14969 3.0e-05 1 Pathogenic
View 14 88459314 88459314 C > G GALC GALC ENST00000261304.2:c.195G>C
ENST00000393569.2:c.117+413G>C
ENSP00000261304.2:p.Gly65=
2/14969 7.0e-05 1 Pathogenic
View 14 88883104 88883104 T > A SPATA7 SPATA7 NM_001040428.3:c.192T>A
NM_018418.4:c.288T>A
NP_001035518.1:p.Cys64Ter
NP_060888.2:p.Cys96Ter
2/13144 8.0e-05 1 Pathogenic
View 14 92482073 92482073 G > A TRIP11 NM_004239.3:c.790C>T
NP_004230.2:p.Arg264Ter
2/13144 8.0e-05 1 Pathogenic
View 14 102469031 102469031 G > A DYNC1H1 NM_001376.4:c.4700G>A
NP_001367.2:p.Arg1567Gln
1/13144 4.0e-05 1 Pathogenic
View 14 105834449 105834449 G > A PACS2 PACS2 PACS2 NM_001243127.1:c.424G>A
NM_015197.3:c.625G>A
NM_001100913.2:c.625G>A
NP_001230056.1:p.Glu142Lys
NP_056012.2:p.Glu209Lys
NP_001094383.2:p.Glu209Lys
1/13105 4.0e-05 1 Pathogenic
View 15 25584329 25584330 TC > - UBE3A UBE3A UBE3A NM_130839.2:c.2573_2574del
NM_130838.1:c.2513_2514del
NM_000462.3:c.2582_2583del
NP_570854.1:p.Arg858IlefsTer22
NP_570853.1:p.Arg838IlefsTer22
NP_000453.2:p.Arg861IlefsTer22
1/13843 4.0e-05 1 Pathogenic
View 15 25615817 25615817 G > A UBE3A UBE3A UBE3A NM_130839.2:c.1504C>T
NM_130838.1:c.1444C>T
NM_000462.3:c.1513C>T
NP_570854.1:p.Arg502Ter
NP_570853.1:p.Arg482Ter
NP_000453.2:p.Arg505Ter
1/13843 4.0e-05 1 Pathogenic
View 15 28228529 28228529 T > C OCA2 NM_000275.2:c.1465A>G
NP_000266.2:p.Asn489Asp
18/13144 0.00068 1 Pathogenic
View 15 28230247 28230247 C > T OCA2 NM_000275.2:c.1327G>A
NP_000266.2:p.Val443Ile
158/13144 0.00605 1 Pathogenic
View 15 40707653 40707653 C > T IVD IVD NM_002225.3:c.941C>T
NM_001159508.1:c.851C>T
NP_002216.2:p.Ala314Val
NP_001152980.1:p.Ala284Val
24/14969 0.00087 1 Pathogenic
View 15 43695895 43695895 G > T TUBGCP4 NM_014444.2:c.1746G>T
NP_055259.2:p.Leu582=
17/13144 0.00065 1 Pathogenic
Displaying 200 through 250 of 878 variants