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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View X 48681597 48681597 G > C HDAC6 NM_006044.2:c.2788G>C
NP_006035.2:p.Gly930Arg
15/9594 0.00109 4 non_synonymous Likely Benign
View X 48681941 48681941 A > G HDAC6 NM_006044.2:c.3132A>G
NP_006035.2:p.Ile1044Met
11/9594 0.00078 4 non_synonymous Likely Benign
View X 48682140 48682140 G > A HDAC6 NM_006044.2:c.3248G>A
NP_006035.2:p.Gly1083Asp
48/9594 0.00328 4 non_synonymous Likely Benign
View X 49049937 49049937 T > G SYP NM_003179.2:c.424-17A>C
7/11383 0.00044 4 three_prime_flank Likely Benign
View X 49071722 49071722 G > A CACNA1F CACNA1F CACNA1F NM_005183.2:c.3472-18C>T
NM_001256790.1:c.3277-18C>T
NM_001256789.1:c.3439-18C>T
47/9555 0.00335 4 three_prime_flank Likely Benign
View X 49103192 49103192 G > A CCDC22 NM_014008.3:c.715G>A
NP_054727.1:p.Glu239Lys
30/9594 0.00203 4 Likely Benign
View X 49104709 49104709 C > T CCDC22 NM_014008.3:c.1150C>T
NP_054727.1:p.Arg384Cys
64/9594 0.00438 4 non_synonymous Likely Benign
View X 49105970 49105970 G > A CCDC22 NM_014008.3:c.1636G>A
NP_054727.1:p.Asp546Asn
52/9594 0.00354 4 non_synonymous Likely Benign
View X 49111901 49111901 C > T FOXP3 FOXP3 NM_014009.3:c.805G>A
NM_001114377.1:c.700G>A
NP_054728.2:p.Ala269Thr
NP_001107849.1:p.Ala234Thr
4/11422 0.00026 4 non_synonymous Likely Benign
View X 49113312 49113312 G > A FOXP3 FOXP3 NM_014009.3:c.543C>T
NM_001114377.1:c.438C>T
NP_054728.2:p.Ser181=
NP_001107849.1:p.Ser146=
573/11422 0.03309 3 Likely Benign
View X 50341412 50341412 C > T SHROOM4 SHROOM4 NM_020717.3:c.4066G>A
NR_027121.1:n.4092G>A
NP_065768.2:p.Val1356Ile
39/11422 0.00219 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View X 50377194 50377194 G > A SHROOM4 SHROOM4 NM_020717.3:c.1879C>T
NR_027121.1:n.1905C>T
NP_065768.2:p.Pro627Ser
39/11422 0.00232 4 non_synonymous Likely Benign
View X 50377398 50377398 C > T SHROOM4 SHROOM4 NM_020717.3:c.1675G>A
NR_027121.1:n.1701G>A
NP_065768.2:p.Glu559Lys
11/11422 0.00053 4 non_synonymous Likely Benign
View X 50378637 50378637 G > A SHROOM4 SHROOM4 NM_020717.3:c.436C>T
NR_027121.1:n.462C>T
NP_065768.2:p.Arg146Trp
6/11422 0.00035 4 non_synonymous Likely Benign
View X 53246446 53246446 C > T KDM5C KDM5C NM_001146702.1:c.335G>A
NM_004187.3:c.536G>A
NP_001140174.1:p.Arg112His
NP_004178.2:p.Arg179His
8/11422 0.00044 4 non_synonymous Likely Benign
View X 53270952 53270952 C > G IQSEC2 IQSEC2 NM_001111125.2:c.3015+14G>C
NM_015075.1:c.2400+14G>C
25/9555 0.00167 4 five_prime_intronic Likely Benign
View X 53284978 53284978 G > A IQSEC2 IQSEC2 NM_001111125.2:c.999+4C>T
NM_015075.1:c.384+4C>T
1/9594 5.0e-05 4 five_prime_flank Likely Benign
View X 53566753 53566753 C > G HUWE1 NM_031407.5:c.11497G>C
NP_113584.3:p.Gly3833Arg
3/11422 0.00018 4 non_synonymous Likely Benign
View X 53607776 53607776 G > A HUWE1 NM_031407.5:c.5716+15C>T
35/11383 0.00193 4 five_prime_intronic Likely Benign
View X 53966801 53966803 GAG > - PHF8 PHF8 PHF8 NM_001184897.1:c.2493_2495del
NM_015107.2:c.2796_2798del
NM_001184896.1:c.2904_2906del
NP_001171826.1:p.Ser832del
NP_055922.1:p.Ser933del
NP_001171825.1:p.Ser969del
12/9594 0.00078 4 in_frame_indel Likely Benign
View X 53966879 53966879 C > T PHF8 PHF8 PHF8 NM_001184897.1:c.2417G>A
NM_015107.2:c.2720G>A
NM_001184896.1:c.2828G>A
NP_001171826.1:p.Arg806His
NP_055922.1:p.Arg907His
NP_001171825.1:p.Arg943His
64/9594 0.00453 4 non_synonymous Likely Benign
View X 54011659 54011659 C > T PHF8 PHF8 PHF8 PHF8 NM_001184898.1:c.2080G>A
NM_001184897.1:c.1828G>A
NM_015107.2:c.2131G>A
NM_001184896.1:c.2239G>A
NP_001171827.1:p.Glu694Lys
NP_001171826.1:p.Glu610Lys
NP_055922.1:p.Glu711Lys
NP_001171825.1:p.Glu747Lys
37/9594 0.0025 4 non_synonymous Likely Benign
View X 54475557 54475557 C > G FGD1 NM_004463.2:c.2274+19G>C
12/11384 0.00075 4 five_prime_intronic Likely Benign
View X 54496429 54496429 C > G FGD1 NM_004463.2:c.1101+20G>C
65/11384 0.00351 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View X 54496615 54496615 G > A FGD1 NM_004463.2:c.935C>T
NP_004454.2:p.Pro312Leu
5/11422 0.00035 4 ClinVar pathogenic variant Likely Benign
View X 54496874 54496874 C > T FGD1 NM_004463.2:c.676G>A
NP_004454.2:p.Ala226Thr
56/11422 0.00315 4 non_synonymous Likely Benign
View X 54497833 54497833 C > T FGD1 NM_004463.2:c.395G>A
NP_004454.2:p.Arg132Gln
23/11422 0.00127 4 non_synonymous Likely Benign
View X 54836239 54836239 A > G MAGED2 MAGED2 MAGED2 NM_201222.1:c.130A>G
NM_177433.1:c.130A>G
NM_014599.4:c.130A>G
NP_957516.1:p.Lys44Glu
NP_803182.1:p.Lys44Glu
NP_055414.2:p.Lys44Glu
47/9555 0.00335 4 non_synonymous Likely Benign
View X 62893924 62893924 G > C ARHGEF9 ARHGEF9 ARHGEF9 NM_001173480.1:c.612C>G
NM_001173479.1:c.759C>G
NM_015185.2:c.918C>G
NP_001166951.1:p.Asp204Glu
NP_001166950.1:p.Asp253Glu
NP_056000.1:p.Asp306Glu
9/11422 0.00053 4 non_synonymous Likely Benign
View X 62917203 62917203 C > T ARHGEF9 ARHGEF9 ARHGEF9 NM_001173480.1:c.76-19G>A
NM_001173479.1:c.223-19G>A
NM_015185.2:c.382-19G>A
4/11383 0.00026 4 three_prime_flank Likely Benign
View X 63410516 63410516 G > A AMER1 NM_152424.3:c.2651C>T
NP_689637.3:p.Pro884Leu
24/9594 0.00167 4 non_synonymous Likely Benign
View X 63411294 63411294 T > C AMER1 NM_152424.3:c.1873A>G
NP_689637.3:p.Thr625Ala
6/9594 0.00042 4 non_synonymous Likely Benign
View X 63412259 63412259 C > T AMER1 NM_152424.3:c.908G>A
NP_689637.3:p.Gly303Asp
5/9594 0.00036 4 non_synonymous Likely Benign
View X 63412335 63412335 C > A AMER1 NM_152424.3:c.832G>T
NP_689637.3:p.Ala278Ser
15/9594 0.00109 4 non_synonymous Likely Benign
View X 64139942 64139942 C > A ZC4H2 ZC4H2 ZC4H2 ZC4H2 ZC4H2 NM_001243804.1:c.329+19G>T
NM_001178032.2:c.329+19G>T
NM_001178033.2:c.398+19G>T
NM_018684.3:c.398+19G>T
NR_045044.1:n.809+19G>T
83/9555 0.00591 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View X 66765162 66765170 GCAGCAGCA > - AR NM_000044.3:c.231_239del
NP_000035.2:p.Gln78_Gln80del
532/11422 0.02775 4 Likely Benign
View X 66766360 66766371 GGCGGCGGCGGC > - AR NM_000044.3:c.1409_1420del
NP_000035.2:p.Gly470_Gly473del
243/11422 0.0162 4 in_frame_indel Likely Benign
View X 66863224 66863224 G > A AR AR NM_000044.3:c.1743G>A
NM_001011645.2:c.147G>A
NP_000035.2:p.Lys581=
NP_001011645.1:p.Lys49=
24/11422 0.00127 4 Likely Benign
View X 67272395 67272395 G > A OPHN1 NM_002547.2:c.2362C>T
NP_002538.1:p.Arg788Trp
3/11422 0.00018 4 non_synonymous Likely Benign
View X 67273643 67273643 T > C OPHN1 NM_002547.2:c.2168A>G
NP_002538.1:p.Asp723Gly
11/11422 0.00057 4 non_synonymous Likely Benign
View X 67283775 67283775 C > T OPHN1 NM_002547.2:c.2079G>A
NP_002538.1:p.Met693Ile
23/11422 0.00153 4 non_synonymous Likely Benign
View X 67283825 67283825 G > T OPHN1 NM_002547.2:c.2029C>A
NP_002538.1:p.Leu677Met
26/11422 0.00158 4 non_synonymous Likely Benign
View X 67417121 67417121 A > T OPHN1 NM_002547.2:c.1026-15T>A
5/11383 0.00031 4 polypyrimidine_tract Likely Benign
View X 67429979 67429979 C > T OPHN1 NM_002547.2:c.832+16G>A
33/11383 0.00198 4 five_prime_intronic Likely Benign
View X 67652730 67652730 C > T OPHN1 NM_002547.2:c.133G>A
NP_002538.1:p.Ala45Thr
17/11422 0.00101 4 non_synonymous Likely Benign
View X 69366608 69366608 T > C IGBP1 NM_001551.2:c.608T>C
NP_001542.1:p.Ile203Thr
79/9595 0.00485 4 non_synonymous Likely Benign
View X 69665142 69665142 G > A DLG3 NM_021120.3:c.91G>A
NP_066943.2:p.Gly31Ser
2/11422 0.00018 4 non_synonymous Likely Benign
View X 69674169 69674171 AGG > - DLG3 DLG3 NM_021120.3:c.1405+5_1405+7del
NM_020730.2:c.394+5_394+7del
4/11422 0.00022 4 five_prime_flank Likely Benign
View X 70341499 70341499 G > C MED12 NM_005120.2:c.934G>C
NP_005111.2:p.Val312Leu
4/11422 0.00018 4 non_synonymous Likely Benign
View X 70342211 70342211 T > C MED12 NM_005120.2:c.1248+15T>C
85/11383 0.00461 4 five_prime_intronic Likely Benign
Displaying 2,650 through 2,700 of 2,802 variants