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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 55582636 55582636 T > C PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_033056.3:c.4850A>G
NM_001142770.1:c.4373+2260A>G
NM_001142767.1:c.4730A>G
NM_001142764.1:c.4856A>G
NM_001142771.1:c.4388+2260A>G
NM_001142768.1:c.4790A>G
NM_001142763.1:c.4871A>G
NM_001142772.1:c.4373+2260A>G
NM_001142769.1:c.4409+2260A>G
NM_001142773.1:c.4781A>G
NM_001142765.1:c.4643A>G
NM_001142766.1:c.4841A>G
NP_149045.3:p.Asn1617Ser
NP_001136239.1:p.Asn1577Ser
NP_001136236.1:p.Asn1619Ser
NP_001136240.1:p.Asn1597Ser
NP_001136235.1:p.Asn1624Ser
NP_001136245.1:p.Asn1594Ser
NP_001136237.1:p.Asn1548Ser
NP_001136238.1:p.Asn1614Ser
84/6213 0.00676 4 non_synonymous Likely Benign
View 10 55591253 55591253 G > T PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_033056.3:c.4024C>A
NM_001142770.1:c.4024C>A
NM_001142767.1:c.3913C>A
NM_001142764.1:c.4024C>A
NM_001142771.1:c.4039C>A
NM_001142768.1:c.3958C>A
NM_001142763.1:c.4039C>A
NM_001142772.1:c.4024C>A
NM_001142769.1:c.4060C>A
NM_001142773.1:c.3958C>A
NM_001142765.1:c.3811C>A
NM_001142766.1:c.4024C>A
NP_149045.3:p.Gln1342Lys
NP_001136242.1:p.Gln1342Lys
NP_001136239.1:p.Gln1305Lys
NP_001136236.1:p.Gln1342Lys
NP_001136243.1:p.Gln1347Lys
NP_001136240.1:p.Gln1320Lys
NP_001136235.1:p.Gln1347Lys
NP_001136244.1:p.Gln1342Lys
NP_001136241.1:p.Gln1354Lys
NP_001136245.1:p.Gln1320Lys
NP_001136237.1:p.Gln1271Lys
NP_001136238.1:p.Gln1342Lys
20/6213 0.00161 4 Likely Benign
View 10 55782743 55782743 A > G PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_033056.3:c.2435T>C
NM_001142770.1:c.2435T>C
NM_001142767.1:c.2324T>C
NM_001142764.1:c.2435T>C
NM_001142771.1:c.2450T>C
NM_001142768.1:c.2369T>C
NM_001142763.1:c.2450T>C
NM_001142772.1:c.2435T>C
NM_001142769.1:c.2471T>C
NM_001142773.1:c.2369T>C
NM_001142765.1:c.2222T>C
NM_001142766.1:c.2435T>C
NP_149045.3:p.Ile812Thr
NP_001136242.1:p.Ile812Thr
NP_001136239.1:p.Ile775Thr
NP_001136236.1:p.Ile812Thr
NP_001136243.1:p.Ile817Thr
NP_001136240.1:p.Ile790Thr
NP_001136235.1:p.Ile817Thr
NP_001136244.1:p.Ile812Thr
NP_001136241.1:p.Ile824Thr
NP_001136245.1:p.Ile790Thr
NP_001136237.1:p.Ile741Thr
NP_001136238.1:p.Ile812Thr
16/6213 0.00129 4 non_synonymous Likely Benign
View 10 56288130 56288130 T > A PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_033056.3:c.92-493A>T
NM_001142770.1:c.92-493A>T
NM_001142767.1:c.92-493A>T
NM_001142764.1:c.92-493A>T
NM_001142771.1:c.106+18A>T
NM_001142768.1:c.91+135802A>T
NM_001142763.1:c.106+18A>T
NM_001142772.1:c.92-493A>T
NM_001142769.1:c.106+18A>T
NM_001142773.1:c.91+135802A>T
NM_001142765.1:c.92-493A>T
NM_001142766.1:c.92-493A>T
20/6175 0.0017 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 10 61815396 61815396 C > T ANK3 ANK3 ANK3 ANK3 NM_001149.3:c.2937+20G>A
NM_001204404.1:c.5538+20G>A
NM_020987.3:c.13065+20G>A
NM_001204403.1:c.5517+20G>A
19/6174 0.00162 4 five_prime_intronic Likely Benign
View 10 61829686 61829686 T > G ANK3 ANK3 ANK3 ANK3 NM_001149.3:c.1808-1919A>C
NM_001204404.1:c.4409-1919A>C
NM_020987.3:c.10953A>C
NM_001204403.1:c.4388-1919A>C
NP_066267.2:p.Lys3651Asn
39/6213 0.00314 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 61833684 61833684 C > T ANK3 ANK3 ANK3 ANK3 NM_001149.3:c.1808-5917G>A
NM_001204404.1:c.4409-5917G>A
NM_020987.3:c.6955G>A
NM_001204403.1:c.4388-5917G>A
NP_066267.2:p.Asp2319Asn
24/6213 0.00193 4 non_synonymous Likely Benign
View 10 61833686 61833686 T > C ANK3 ANK3 ANK3 ANK3 NM_001149.3:c.1808-5919A>G
NM_001204404.1:c.4409-5919A>G
NM_020987.3:c.6953A>G
NM_001204403.1:c.4388-5919A>G
NP_066267.2:p.Lys2318Arg
16/6213 0.00129 4 non_synonymous Likely Benign
View 10 61834628 61834628 G > A ANK3 ANK3 ANK3 ANK3 NM_001149.3:c.1807+5667C>T
NM_001204404.1:c.4408+5667C>T
NM_020987.3:c.6011C>T
NM_001204403.1:c.4387+5667C>T
NP_066267.2:p.Ala2004Val
16/6213 0.00129 4 non_synonymous Likely Benign
View 10 61905727 61905727 T > C ANK3 ANK3 ANK3 NM_001204404.1:c.2616A>G
NM_020987.3:c.2615-6882A>G
NM_001204403.1:c.2597-6882A>G
NP_001191333.1:p.Lys872=
71/6213 0.00579 4 five_prime_exonic Likely Benign
View 10 61926343 61926343 A > - ANK3 ANK3 ANK3 NM_001204404.1:c.2563+6del
NM_020987.3:c.2614+6del
NM_001204403.1:c.2596+6del
16/6213 0.00129 4 five_prime_flank Likely Benign
View 10 62038564 62038564 T > C ANK3 ANK3 ANK3 NM_001204404.1:c.331A>G
NM_020987.3:c.382A>G
NM_001204403.1:c.364A>G
NP_001191333.1:p.Thr111Ala
NP_066267.2:p.Thr128Ala
NP_001191332.1:p.Thr122Ala
36/6213 0.0029 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 67862992 67862992 C > T CTNNA3 CTNNA3 NM_013266.2:c.1900G>A
NM_001127384.1:c.1900G>A
NP_037398.2:p.Glu634Lys
NP_001120856.1:p.Glu634Lys
14/6213 0.00113 4 non_synonymous Likely Benign
View 10 69959320 69959320 C > A MYPN MYPN MYPN MYPN NR_045663.3:n.3610C>A
NR_045662.3:n.2908C>A
ENST00000358913.5:c.3481C>A
NM_001256268.1:c.2599C>A
ENSP00000351790.5:p.Leu1161Ile
NP_001243197.1:p.Leu867Ile
20/6213 0.00161 4 Likely Benign
View 10 70179634 70179634 G > T DNA2 DNA2 NR_102264.1:n.2687C>A
NM_001080449.2:c.2713C>A
NP_001073918.2:p.Gln905Lys
79/6213 0.0066 4 non_synonymous Likely Benign
View 10 70181964 70181964 A > G DNA2 DNA2 NR_102264.1:n.2671+18T>C
NM_001080449.2:c.2697+18T>C
9/6174 0.00089 4 five_prime_intronic Likely Benign
View 10 70760271 70760271 T > C KIF1BP NM_015634.3:c.518T>C
NP_056449.1:p.Met173Thr
89/6213 0.00724 4 non_synonymous Likely Benign
View 10 73377112 73377112 G > A CDH23 CDH23 CDH23 CDH23 CDH23 NM_022124.5:c.1096G>A
NM_001171932.1:c.1096G>A
NM_052836.3:c.1096G>A
NM_001171931.1:c.1096G>A
NM_001171930.1:c.1096G>A
NP_071407.4:p.Ala366Thr
NP_001165403.1:p.Ala366Thr
NP_443068.1:p.Ala366Thr
NP_001165402.1:p.Ala366Thr
NP_001165401.1:p.Ala366Thr
129/8004 0.00818 4 Likely Benign
View 10 73492073 73492073 C > T CDH23 C10orf105 CDH23 NM_022124.5:c.4045C>T
NM_001168390.1:c.-6+5412G>A
NM_001171930.1:c.4045C>T
NP_071407.4:p.Arg1349Cys
NP_001165401.1:p.Arg1349Cys
53/8004 0.00331 3 non_synonymous Likely Benign
View 10 73562802 73562802 T > C CDH23 CDH23 CDH23 NM_022124.5:c.7630T>C
NM_001171934.1:c.910T>C
NM_001171933.1:c.910T>C
NP_071407.4:p.Leu2544=
NP_001165405.1:p.Leu304=
NP_001165404.1:p.Leu304=
63/8004 0.00394 4 Likely Benign
View 10 75863558 75863558 A > G VCL VCL NM_014000.2:c.2023-20A>G
NM_003373.3:c.2023-20A>G
10/6174 0.00081 4 three_prime_flank Likely Benign
View 10 76074407 76074407 A > G ADK ADK ADK ADK NM_001123.3:c.144-18A>G
NM_006721.3:c.195-18A>G
NM_001202450.1:c.195-18A>G
NM_001202449.1:c.90-18A>G
121/6176 0.0098 4 three_prime_flank Likely Benign
View 10 76741561 76741561 C > A KAT6B KAT6B KAT6B NM_001256469.1:c.1372C>A
NM_001256468.1:c.1699C>A
NM_012330.3:c.2248C>A
NP_001243398.1:p.Leu458Met
NP_001243397.1:p.Leu567Met
NP_036462.2:p.Leu750Met
4/6213 0.00032 4 non_synonymous Likely Benign
View 10 76781837 76781848 GAGGAGGAGGAC > - KAT6B KAT6B KAT6B NM_001256469.1:c.2355_2366del
NM_001256468.1:c.2682_2693del
NM_012330.3:c.3231_3242del
NP_001243398.1:p.Asp785_Glu788del
NP_001243397.1:p.Asp894_Glu897del
NP_036462.2:p.Asp1077_Glu1080del
39/6214 0.00314 4 in_frame_indel Likely Benign
View 10 76788489 76788489 A > G KAT6B KAT6B KAT6B NM_001256469.1:c.3031A>G
NM_001256468.1:c.3358A>G
NM_012330.3:c.3907A>G
NP_001243398.1:p.Ser1011Gly
NP_001243397.1:p.Ser1120Gly
NP_036462.2:p.Ser1303Gly
2/6213 0.00016 4 non_synonymous Likely Benign
View 10 76788659 76788660 - > GAAGAGGAA KAT6B KAT6B KAT6B NM_001256469.1:c.3221_3229dupAAGAGGAAG
NM_001256468.1:c.3548_3556dupAAGAGGAAG
NM_012330.3:c.4097_4105dupAAGAGGAAG
NP_001243398.1:p.Glu1074_Glu1076dup
NP_001243397.1:p.Glu1183_Glu1185dup
NP_036462.2:p.Glu1366_Glu1368dup
84/6213 0.00716 4 in_frame_indel Likely Benign
View 10 76789417 76789417 G > A KAT6B KAT6B KAT6B NM_001256469.1:c.3959G>A
NM_001256468.1:c.4286G>A
NM_012330.3:c.4835G>A
NP_001243398.1:p.Arg1320His
NP_001243397.1:p.Arg1429His
NP_036462.2:p.Arg1612His
52/6213 0.00418 4 non_synonymous Likely Benign
View 10 78704741 78704742 - > A KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271519.1:c.2545-19dupT
NM_001271518.1:c.2386-19dupT
NM_001161352.1:c.2710-19dupT
NM_001161353.1:c.2659-19dupT
NM_001014797.2:c.2548-19dupT
NM_002247.3:c.2536-19dupT
83/6176 0.0068 4 three_prime_flank Likely Benign
View 10 79396215 79396215 G > T KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271519.1:c.378+808C>A
NM_001271520.1:c.*286C>A
NM_001271518.1:c.378+808C>A
NM_001161352.1:c.378+808C>A
NM_001271521.1:c.*104C>A
NM_001161353.1:c.378+808C>A
NM_001014797.2:c.378+808C>A
NM_002247.3:c.378+808C>A
NM_001271522.1:c.437C>A
NP_001258451.1:p.Pro146Gln
26/6174 0.00211 4 non_synonymous Likely Benign
View 10 79397246 79397248 GAA > - KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271519.1:c.153_155del
NM_001271520.1:c.153_155del
NM_001271518.1:c.153_155del
NM_001161352.1:c.153_155del
NM_001271521.1:c.153_155del
NM_001161353.1:c.153_155del
NM_001014797.2:c.153_155del
NM_002247.3:c.153_155del
NM_001271522.1:c.153_155del
NP_001258448.1:p.Ser60del
NP_001258449.1:p.Ser60del
NP_001258447.1:p.Ser60del
NP_001154824.1:p.Ser60del
NP_001258450.1:p.Ser60del
NP_001154825.1:p.Ser60del
NP_001014797.1:p.Ser60del
NP_002238.2:p.Ser60del
NP_001258451.1:p.Ser60del
11/6214 0.00097 4 in_frame_indel Likely Benign
View 10 79397263 79397264 - > GAG KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 NM_001271519.1:c.135_137dupCTC
NM_001271520.1:c.135_137dupCTC
NM_001271518.1:c.135_137dupCTC
NM_001161352.1:c.135_137dupCTC
NM_001271521.1:c.135_137dupCTC
NM_001161353.1:c.135_137dupCTC
NM_001014797.2:c.135_137dupCTC
NM_002247.3:c.135_137dupCTC
NM_001271522.1:c.135_137dupCTC
NP_001258448.1:p.Ser60dup
NP_001258449.1:p.Ser60dup
NP_001258447.1:p.Ser60dup
NP_001154824.1:p.Ser60dup
NP_001258450.1:p.Ser60dup
NP_001154825.1:p.Ser60dup
NP_001014797.1:p.Ser60dup
NP_002238.2:p.Ser60dup
NP_001258451.1:p.Ser60dup
35/6213 0.00282 4 in_frame_indel Likely Benign
View 10 79745881 79745881 T > C POLR3A NM_007055.3:c.2938A>G
NP_008986.2:p.Ile980Val
72/6213 0.00579 4 non_synonymous Likely Benign
View 10 79769647 79769647 C > T POLR3A NM_007055.3:c.1745G>A
NP_008986.2:p.Arg582His
25/6213 0.00201 4 Likely Benign
View 10 79769668 79769668 T > A POLR3A NM_007055.3:c.1724A>T
NP_008986.2:p.Lys575Met
52/6213 0.00435 3 Likely Benign
View 10 88439895 88439895 C > T LDB3 LDB3 LDB3 LDB3 LDB3 LDB3 NM_001080114.1:c.302C>T
NM_001171610.1:c.302C>T
NM_001080115.1:c.302C>T
NM_007078.2:c.302C>T
NM_001171611.1:c.302C>T
NM_001080116.1:c.302C>T
NP_001073583.1:p.Pro101Leu
NP_001165081.1:p.Pro101Leu
NP_001073584.1:p.Pro101Leu
NP_009009.1:p.Pro101Leu
NP_001165082.1:p.Pro101Leu
NP_001073585.1:p.Pro101Leu
36/6213 0.0029 4 Likely Benign
View 10 88446830 88446830 G > A LDB3 LDB3 LDB3 LDB3 LDB3 LDB3 NM_001080114.1:c.349G>A
NM_001171610.1:c.694G>A
NM_001080115.1:c.690-4823G>A
NM_007078.2:c.690-4823G>A
NM_001171611.1:c.694G>A
NM_001080116.1:c.349G>A
NP_001073583.1:p.Asp117Asn
NP_001165081.1:p.Asp232Asn
NP_001165082.1:p.Asp232Asn
NP_001073585.1:p.Asp117Asn
91/6213 0.00732 4 Likely Benign
View 10 88451715 88451715 A > G LDB3 LDB3 LDB3 LDB3 LDB3 LDB3 NM_001080114.1:c.611A>G
NM_001171610.1:c.956A>G
NM_001080115.1:c.752A>G
NM_007078.2:c.752A>G
NM_001171611.1:c.956A>G
NM_001080116.1:c.611A>G
NP_001073583.1:p.Lys204Arg
NP_001165081.1:p.Lys319Arg
NP_001073584.1:p.Lys251Arg
NP_009009.1:p.Lys251Arg
NP_001165082.1:p.Lys319Arg
NP_001073585.1:p.Lys204Arg
76/6214 0.00636 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 88822405 88822405 G > T GLUD1 NM_005271.3:c.921+8C>A
70/6213 0.00563 4 five_prime_intronic Likely Benign
View 10 88834291 88834292 TA > - GLUD1 NM_005271.3:c.646+16_646+17del
14/6174 0.00113 4 five_prime_intronic Likely Benign
View 10 94405364 94405364 A > C KIF11 NM_004523.3:c.2512A>C
NP_004514.2:p.Asn838His
3/6213 0.00024 4 non_synonymous 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
80/6213 0.0066 4 non_synonymous 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
80/6213 0.0066 4 non_synonymous Likely Benign
View 10 97983635 97983635 C > A BLNK BLNK BLNK BLNK BLNK BLNK BLNK BLNK BLNK NM_001258442.1:c.349+3543G>T
NM_013314.3:c.472G>T
NR_047681.1:n.484+3531G>T
NM_001258441.1:c.472G>T
NM_001258440.1:c.472G>T
NR_047680.1:n.467+3543G>T
NM_001114094.1:c.472G>T
NR_047683.1:n.590G>T
NR_047682.1:n.479+3531G>T
NP_037446.1:p.Ala158Ser
NP_001245370.1:p.Ala158Ser
NP_001245369.1:p.Ala158Ser
NP_001107566.1:p.Ala158Ser
84/6214 0.00676 4 non_synonymous 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
18/6213 0.00153 4 non_synonymous Likely Benign
View 10 100481427 100481427 C > T HPSE2 HPSE2 HPSE2 HPSE2 NM_001166246.1:c.943G>A
NM_021828.4:c.943G>A
NM_001166245.1:c.607G>A
NM_001166244.1:c.769G>A
NP_001159718.1:p.Ala315Thr
NP_068600.4:p.Ala315Thr
NP_001159717.1:p.Ala203Thr
NP_001159716.1:p.Ala257Thr
45/6213 0.00378 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 10 101476226 101476226 G > T COX15 COX15 NM_078470.4:c.988-8C>A
NM_004376.5:c.988-8C>A
5/8004 0.00031 4 polypyrimidine_tract Likely Benign
View 10 101557063 101557063 G > A ABCC2 ENST00000370449.4:c.842G>A
ENSP00000359478.4:p.Ser281Asn
113/6624 0.00853 4 non_synonymous Likely Benign
View 10 104359297 104359297 G > T SUFU SUFU NM_016169.3:c.1018G>T
NM_001178133.1:c.1018G>T
NP_057253.2:p.Ala340Ser
NP_001171604.1:p.Ala340Ser
92/6213 0.00756 4 non_synonymous Likely Benign
View 10 111872643 111872643 T > C ADD3 ADD3 ADD3 NM_019903.3:c.304T>C
NM_016824.3:c.304T>C
NM_001121.2:c.304T>C
NP_063968.1:p.Ser102Pro
NP_058432.1:p.Ser102Pro
NP_001112.2:p.Ser102Pro
47/6174 0.00389 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
21/6213 0.00169 4 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Likely Benign
Displaying 200 through 250 of 2,310 variants