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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 10 76781908 76781909 - > GAA KAT6B KAT6B KAT6B NM_001256469.1:c.2434_2436dupGAA
NM_012330.3:c.3310_3312dupGAA
NM_001256468.1:c.2761_2763dupGAA
NP_001243398.1:p.Glu812dup
NP_036462.2:p.Glu1104dup
NP_001243397.1:p.Glu921dup
37/13144 0.00141 4 in_frame_indel Likely Benign
View 10 76788489 76788489 A > G KAT6B KAT6B KAT6B NM_001256469.1:c.3031A>G
NM_012330.3:c.3907A>G
NM_001256468.1:c.3358A>G
NP_001243398.1:p.Ser1011Gly
NP_036462.2:p.Ser1303Gly
NP_001243397.1:p.Ser1120Gly
2/13144 8.0e-05 4 curation Likely Benign
View 10 76788645 76788650 GAGGAG > - KAT6B KAT6B KAT6B NM_001256469.1:c.3198_3203del
NM_012330.3:c.4074_4079del
NM_001256468.1:c.3525_3530del
NP_001243398.1:p.Glu1075_Glu1076del
NP_036462.2:p.Glu1367_Glu1368del
NP_001243397.1:p.Glu1184_Glu1185del
58/13144 0.00221 4 curation Likely Benign
View 10 76788659 76788660 - > GAAGAGGAA KAT6B KAT6B KAT6B NM_001256469.1:c.3221_3229dupAAGAGGAAG
NM_012330.3:c.4097_4105dupAAGAGGAAG
NM_001256468.1:c.3548_3556dupAAGAGGAAG
NP_001243398.1:p.Glu1074_Glu1076dup
NP_036462.2:p.Glu1366_Glu1368dup
NP_001243397.1:p.Glu1183_Glu1185dup
188/13144 0.00761 4 curation Likely Benign
View 10 76789417 76789417 G > A KAT6B KAT6B KAT6B NM_001256469.1:c.3959G>A
NM_012330.3:c.4835G>A
NM_001256468.1:c.4286G>A
NP_001243398.1:p.Arg1320His
NP_036462.2:p.Arg1612His
NP_001243397.1:p.Arg1429His
119/13144 0.00453 4 curation Likely Benign
View 10 78704741 78704742 - > A KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_002247.3:c.2536-19dupT
NM_001014797.2:c.2548-19dupT
NM_001271519.1:c.2545-19dupT
NM_001271518.1:c.2386-19dupT
NM_001161353.1:c.2659-19dupT
NM_001161352.1:c.2710-19dupT
147/11961 0.00623 4 curation Likely Benign
View 10 79396215 79396215 G > T KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271520.1:c.*286C>A
NM_002247.3:c.378+808C>A
NM_001271521.1:c.*104C>A
NM_001014797.2:c.378+808C>A
NM_001271522.1:c.437C>A
NM_001271519.1:c.378+808C>A
NM_001271518.1:c.378+808C>A
NM_001161353.1:c.378+808C>A
NM_001161352.1:c.378+808C>A
NP_001258451.1:p.Pro146Gln
75/13105 0.00286 4 curation Likely Benign
View 10 79396252 79396252 C > G KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271520.1:c.*249G>C
NM_002247.3:c.378+771G>C
NM_001271521.1:c.*67G>C
NM_001014797.2:c.378+771G>C
NM_001271522.1:c.400G>C
NM_001271519.1:c.378+771G>C
NM_001271518.1:c.378+771G>C
NM_001161353.1:c.378+771G>C
NM_001161352.1:c.378+771G>C
NP_001258451.1:p.Glu134Gln
129/13105 0.00496 4 curation Likely Benign
View 10 79397246 79397248 GAA > - KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271520.1:c.153_155del
NM_002247.3:c.153_155del
NM_001271521.1:c.153_155del
NM_001014797.2:c.153_155del
NM_001271522.1:c.153_155del
NM_001271519.1:c.153_155del
NM_001271518.1:c.153_155del
NM_001161353.1:c.153_155del
NM_001161352.1:c.153_155del
NP_001258449.1:p.Ser60del
NP_002238.2:p.Ser60del
NP_001258450.1:p.Ser60del
NP_001014797.1:p.Ser60del
NP_001258451.1:p.Ser60del
NP_001258448.1:p.Ser60del
NP_001258447.1:p.Ser60del
NP_001154825.1:p.Ser60del
NP_001154824.1:p.Ser60del
23/13144 0.00091 4 curation Likely Benign
View 10 79397263 79397264 - > GAG KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271520.1:c.135_137dupCTC
NM_002247.3:c.135_137dupCTC
NM_001271521.1:c.135_137dupCTC
NM_001014797.2:c.135_137dupCTC
NM_001271522.1:c.135_137dupCTC
NM_001271519.1:c.135_137dupCTC
NM_001271518.1:c.135_137dupCTC
NM_001161353.1:c.135_137dupCTC
NM_001161352.1:c.135_137dupCTC
NP_001258449.1:p.Ser60dup
NP_002238.2:p.Ser60dup
NP_001258450.1:p.Ser60dup
NP_001014797.1:p.Ser60dup
NP_001258451.1:p.Ser60dup
NP_001258448.1:p.Ser60dup
NP_001258447.1:p.Ser60dup
NP_001154825.1:p.Ser60dup
NP_001154824.1:p.Ser60dup
54/13144 0.00205 4 curation Likely Benign
View 10 79397367 79397367 T > C KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271520.1:c.34A>G
NM_002247.3:c.34A>G
NM_001271521.1:c.34A>G
NM_001014797.2:c.34A>G
NM_001271522.1:c.34A>G
NM_001271519.1:c.34A>G
NM_001271518.1:c.34A>G
NM_001161353.1:c.34A>G
NM_001161352.1:c.34A>G
NP_001258449.1:p.Ser12Gly
NP_002238.2:p.Ser12Gly
NP_001258450.1:p.Ser12Gly
NP_001014797.1:p.Ser12Gly
NP_001258451.1:p.Ser12Gly
NP_001258448.1:p.Ser12Gly
NP_001258447.1:p.Ser12Gly
NP_001154825.1:p.Ser12Gly
NP_001154824.1:p.Ser12Gly
92/13144 0.00358 4 curation Likely Benign
View 10 79745881 79745881 T > C POLR3A NM_007055.3:c.2938A>G
NP_008986.2:p.Ile980Val
216/13144 0.00829 4 curation Likely Benign
View 10 79769647 79769647 C > T POLR3A NM_007055.3:c.1745G>A
NP_008986.2:p.Arg582His
52/13144 0.00198 4 curation Likely Benign
View 10 79769668 79769668 T > A POLR3A NM_007055.3:c.1724A>T
NP_008986.2:p.Lys575Met
128/13144 0.00502 4 curation Likely Benign
View 10 81371554 81371554 T > G SFTPA1 SFTPA1 SFTPA1 SFTPA1 SFTPA1 SFTPA1 NM_001093770.2:c.23-5T>G
NM_005411.4:c.-23-5T>G
NM_001164644.1:c.-23-5T>G
NM_001164645.1:c.23-5T>G
NM_001164646.1:c.-23-5T>G
NM_001164647.1:c.-23-5T>G
73/11989 0.00309 4 polypyrimidine_tract Likely Benign
View 10 86017767 86017767 A > G RGR RGR RGR NM_002921.3:c.756+5A>G
NM_001012722.1:c.631-497A>G
NM_001012720.1:c.744+5A>G
116/11992 0.00484 4 curation Likely Benign
View 10 88439895 88439895 C > T LDB3 LDB3 LDB3 LDB3 LDB3 LDB3 NM_001080114.1:c.302C>T
NM_001080115.1:c.302C>T
NM_001080116.1:c.302C>T
NM_001171610.1:c.302C>T
NM_007078.2:c.302C>T
NM_001171611.1:c.302C>T
NP_001073583.1:p.Pro101Leu
NP_001073584.1:p.Pro101Leu
NP_001073585.1:p.Pro101Leu
NP_001165081.1:p.Pro101Leu
NP_009009.1:p.Pro101Leu
NP_001165082.1:p.Pro101Leu
76/13144 0.00289 4 curation Likely Benign
View 10 88446830 88446830 G > A LDB3 LDB3 LDB3 LDB3 LDB3 LDB3 NM_001080114.1:c.349G>A
NM_001080115.1:c.690-4823G>A
NM_001080116.1:c.349G>A
NM_001171610.1:c.694G>A
NM_007078.2:c.690-4823G>A
NM_001171611.1:c.694G>A
NP_001073583.1:p.Asp117Asn
NP_001073585.1:p.Asp117Asn
NP_001165081.1:p.Asp232Asn
NP_001165082.1:p.Asp232Asn
146/13144 0.00567 4 curation Likely Benign
View 10 88451715 88451715 A > G LDB3 LDB3 LDB3 LDB3 LDB3 LDB3 NM_001080114.1:c.611A>G
NM_001080115.1:c.752A>G
NM_001080116.1:c.611A>G
NM_001171610.1:c.956A>G
NM_007078.2:c.752A>G
NM_001171611.1:c.956A>G
NP_001073583.1:p.Lys204Arg
NP_001073584.1:p.Lys251Arg
NP_001073585.1:p.Lys204Arg
NP_001165081.1:p.Lys319Arg
NP_009009.1:p.Lys251Arg
NP_001165082.1:p.Lys319Arg
166/13144 0.00647 4 curation Likely Benign
View 10 88822405 88822405 G > T GLUD1 NM_005271.3:c.921+8C>A
70/11983 0.00292 4 curation Likely Benign
View 10 88834291 88834292 TA > - GLUD1 NM_005271.3:c.646+16_646+17del
43/11947 0.00184 4 curation Likely Benign
View 10 89624340 89624340 C > T PTEN NM_000314.4:c.79+35C>T
68/12648 0.00273 4 curation Likely Benign
View 10 89720637 89720638 - > T PTEN NM_000314.4:c.802-3dupT
16/12645 0.00067 4 curation Likely Benign
View 10 94405364 94405364 A > C KIF11 NM_004523.3:c.2512A>C
NP_004514.2:p.Asn838His
5/13144 0.00019 4 curation Likely Benign
View 10 97444321 97444321 C > T TCTN3 TCTN3 NM_015631.5:c.1030G>A
NM_001143973.1:c.652-935G>A
NP_056446.4:p.Gly344Arg
153/13144 0.0059 4 curation Likely Benign
View 10 97453433 97453433 G > A TCTN3 TCTN3 NM_015631.5:c.224C>T
NM_001143973.1:c.224C>T
NP_056446.4:p.Ala75Val
NP_001137445.1:p.Ala75Val
153/13144 0.0059 4 curation Likely Benign
View 10 97983635 97983635 C > A BLNK BLNK BLNK BLNK BLNK BLNK BLNK BLNK BLNK NM_001258441.1:c.472G>T
NM_001258442.1:c.349+3543G>T
NM_001114094.1:c.472G>T
NM_013314.3:c.472G>T
NR_047683.1:n.590G>T
NM_001258440.1:c.472G>T
NR_047680.1:n.467+3543G>T
NR_047681.1:n.484+3531G>T
NR_047682.1:n.479+3531G>T
NP_001245370.1:p.Ala158Ser
NP_001107566.1:p.Ala158Ser
NP_037446.1:p.Ala158Ser
NP_001245369.1:p.Ala158Ser
147/13146 0.00567 4 curation Likely Benign
View 10 100189567 100189567 C > G HPS1 HPS1 NM_182639.2:c.848G>C
NM_000195.3:c.848G>C
NP_872577.1:p.Gly283Ala
NP_000186.2:p.Gly283Ala
43/13144 0.00167 4 curation Likely Benign
View 10 100481427 100481427 C > T HPSE2 HPSE2 HPSE2 HPSE2 NM_021828.4:c.943G>A
NM_001166244.1:c.769G>A
NM_001166246.1:c.943G>A
NM_001166245.1:c.607G>A
NP_068600.4:p.Ala315Thr
NP_001159716.1:p.Ala257Thr
NP_001159718.1:p.Ala315Thr
NP_001159717.1:p.Ala203Thr
116/13144 0.00449 4 curation Likely Benign
View 10 100481475 100481475 C > T HPSE2 HPSE2 HPSE2 HPSE2 NM_021828.4:c.895G>A
NM_001166244.1:c.721G>A
NM_001166246.1:c.895G>A
NM_001166245.1:c.559G>A
NP_068600.4:p.Ala299Thr
NP_001159716.1:p.Ala241Thr
NP_001159718.1:p.Ala299Thr
NP_001159717.1:p.Ala187Thr
101/13144 0.00388 4 non_synonymous Likely Benign
View 10 101476226 101476226 G > T COX15 COX15 NM_004376.5:c.988-8C>A
NM_078470.4:c.988-8C>A
8/13810 0.00029 4 curation Likely Benign
View 10 101557063 101557063 G > A ABCC2 ENST00000370449.4:c.842G>A
ENSP00000359478.4:p.Ser281Asn
201/13774 0.0073 4 curation Likely Benign
View 10 104159215 104159215 C > T NFKB2 NFKB2 NFKB2 NR_048560.1:n.1851C>T
ENST00000369966.3:c.1288C>T
ENST00000189444.6:c.1288C>T
ENSP00000358983.3:p.Pro430Ser
ENSP00000189444.6:p.Pro430Ser
61/13144 0.00232 4 curation Likely Benign
View 10 104359297 104359297 G > T SUFU SUFU NM_001178133.1:c.1018G>T
NM_016169.3:c.1018G>T
NP_001171604.1:p.Ala340Ser
NP_057253.2:p.Ala340Ser
211/13144 0.00814 4 curation Likely Benign
View 10 104831613 104831613 C > T CNNM2 CNNM2 NM_017649.4:c.2233+17C>T
NM_199076.2:c.2167+3134C>T
43/11945 0.0018 4 curation Likely Benign
View 10 104858755 104858755 A > C NT5C2 NT5C2 NM_012229.4:c.634-14T>G
NM_001134373.2:c.634-14T>G
8/11944 0.00046 4 curation Likely Benign
View 10 111872643 111872643 T > C ADD3 ADD3 ADD3 NM_001121.2:c.304T>C
NM_019903.3:c.304T>C
NM_016824.3:c.304T>C
NP_001112.2:p.Ser102Pro
NP_063968.1:p.Ser102Pro
NP_058432.1:p.Ser102Pro
115/13105 0.0045 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 112343933 112343933 T > G SMC3 NM_005445.3:c.1092-8T>G
79/11993 0.00342 4 curation Likely Benign
View 10 112360894 112360894 T > A SMC3 NM_005445.3:c.2644+6T>A
24/11985 0.001 4 curation Likely Benign
View 10 112572473 112572473 A > G RBM20 NM_001134363.1:c.2318A>G
NP_001127835.1:p.Lys773Arg
27/13144 0.00103 4 curation Likely Benign
View 10 112581039 112581039 G > A RBM20 NM_001134363.1:c.2662G>A
NP_001127835.1:p.Asp888Asn
67/13144 0.00259 4 Likely Benign
View 10 118960774 118960774 T > C KCNK18 NM_181840.1:c.328T>C
NP_862823.1:p.Cys110Arg
207/13144 0.00791 4 curation Likely Benign
View 10 121429462 121429462 A > T BAG3 NM_004281.3:c.280A>T
NP_004272.2:p.Ile94Phe
39/13144 0.00148 4 curation Likely Benign
View 10 121436204 121436204 C > T BAG3 NM_004281.3:c.1138C>T
NP_004272.2:p.Pro380Ser
21/13144 0.0008 4 curation Likely Benign
View 10 122666300 122666300 T > G WDR11 NM_018117.11:c.3450T>G
NP_060587.8:p.Phe1150Leu
17/13144 0.00065 4 curation Likely Benign
View 10 123279677 123279677 G > A FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.1057C>T
NM_001144913.1:c.755C>T
NM_001144914.1:c.749-4844C>T
NM_000141.4:c.755C>T
NM_023029.2:c.488C>T
NM_001144919.1:c.488C>T
NM_001144915.1:c.488C>T
NM_001144916.1:c.410C>T
NM_001144917.1:c.755C>T
NM_022970.3:c.755C>T
NM_001144918.1:c.410C>T
NP_001138385.1:p.Ser252Leu
NP_000132.3:p.Ser252Leu
NP_075418.1:p.Ser163Leu
NP_001138391.1:p.Ser163Leu
NP_001138387.1:p.Ser163Leu
NP_001138388.1:p.Ser137Leu
NP_001138389.1:p.Ser252Leu
NP_075259.4:p.Ser252Leu
NP_001138390.1:p.Ser137Leu
6/13144 0.00023 4 curation Likely Benign
View 10 123325158 123325158 G > A FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.757-14185C>T
NM_001144913.1:c.170C>T
NM_001144914.1:c.170C>T
NM_000141.4:c.170C>T
NM_023029.2:c.110-1065C>T
NM_001144919.1:c.110-1065C>T
NM_001144915.1:c.110-1065C>T
NM_001144916.1:c.110-14185C>T
NM_001144917.1:c.170C>T
NM_022970.3:c.170C>T
NM_001144918.1:c.110-14185C>T
NP_001138385.1:p.Ser57Leu
NP_001138386.1:p.Ser57Leu
NP_000132.3:p.Ser57Leu
NP_001138389.1:p.Ser57Leu
NP_075259.4:p.Ser57Leu
92/13144 0.0035 4 curation Likely Benign
View 10 123353298 123353298 C > T FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.681G>A
NM_001144913.1:c.34G>A
NM_001144914.1:c.34G>A
NM_000141.4:c.34G>A
NM_023029.2:c.34G>A
NM_001144919.1:c.34G>A
NM_001144915.1:c.34G>A
NM_001144916.1:c.34G>A
NM_001144917.1:c.34G>A
NM_022970.3:c.34G>A
NM_001144918.1:c.34G>A
NP_001138385.1:p.Val12Met
NP_001138386.1:p.Val12Met
NP_000132.3:p.Val12Met
NP_075418.1:p.Val12Met
NP_001138391.1:p.Val12Met
NP_001138387.1:p.Val12Met
NP_001138388.1:p.Val12Met
NP_001138389.1:p.Val12Met
NP_075259.4:p.Val12Met
NP_001138390.1:p.Val12Met
5/13144 0.00019 4 curation Likely Benign
View 10 127504998 127504998 C > T UROS NM_000375.2:c.63+8G>A
171/13821 0.00619 4 curation Likely Benign
View 10 131639307 131639308 - > CC EBF3 NM_001005463.2:c.1346-12_1346-11dupGG
202/11962 0.00844 4 curation Likely Benign
Displaying 300 through 350 of 3,378 variants