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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 15 72639003 72639003 T > C HEXA NM_000520.4:c.1195A>G
NP_000511.2:p.Asn399Asp
208/8745 0.01218 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 15 73002101 73002101 A > G BBS4 BBS4 BBS4 BBS4 ENST00000395205.2:c.161A>G
NR_045566.1:n.499A>G
NR_045565.1:n.244A>G
ENST00000268057.4:c.137A>G
ENSP00000378631.2:p.Lys54Arg
ENSP00000268057.4:p.Lys46Arg
95/6955 0.00683 5 Benign
View 15 80472561 80472561 C > T FAH NM_000137.2:c.1056C>T
NP_000128.1:p.Ser352=
853/8745 0.04991 5 Benign
View 15 89398826 89398826 A > G ACAN ACAN NM_001135.3:c.3010A>G
NM_013227.3:c.3010A>G
NP_001126.3:p.Thr1004Ala
NP_037359.3:p.Thr1004Ala
95/6916 0.00687 5 non_synonymous Benign
View 15 89867424 89867424 C > T POLG POLG NM_001126131.1:c.1984G>A
NM_002693.2:c.1984G>A
NP_001119603.1:p.Glu662Lys
NP_002684.1:p.Glu662Lys
95/8745 0.00583 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 15 90176239 90176240 - > AGGGAGGGAGGGAGGG KIF7 NM_198525.2:c.2719-28_2719-13dupCCCTCCCTCCCTCCCT
4152/6926 0.3842 5 polypyrimidine_tract Benign
View 15 91292917 91292917 A > G BLM NM_000057.2:c.419A>G
NP_000048.1:p.Glu140Gly
46/8745 0.00269 5 non_synonymous Benign
View 16 2112521 2112521 C > A TSC2 TSC2 TSC2 NM_000548.3:c.1281C>A
NM_001114382.1:c.1281C>A
NM_001077183.1:c.1281C>A
NP_000539.2:p.Ile427=
NP_001107854.1:p.Ile427=
NP_001070651.1:p.Ile427=
46/6955 0.00338 5 Benign
View 16 2112617 2112617 T > G TSC2 TSC2 TSC2 NM_000548.3:c.1361+16T>G
NM_001114382.1:c.1361+16T>G
NM_001077183.1:c.1361+16T>G
19/6916 0.00137 5 five_prime_intronic Benign
View 16 2112619 2112619 G > C TSC2 TSC2 TSC2 NM_000548.3:c.1361+18G>C
NM_001114382.1:c.1361+18G>C
NM_001077183.1:c.1361+18G>C
21/6918 0.00152 5 five_prime_intronic Benign
View 16 2124416 2124416 G > A TSC2 TSC2 TSC2 NM_000548.3:c.2545+26G>A
NM_001114382.1:c.2545+26G>A
NM_001077183.1:c.2545+26G>A
62/6916 0.00448 5 Benign
View 16 2130189 2130189 G > A TSC2 TSC2 TSC2 NM_000548.3:c.3421G>A
NM_001114382.1:c.3421G>A
NM_001077183.1:c.3289G>A
NP_000539.2:p.Ala1141Thr
NP_001107854.1:p.Ala1141Thr
NP_001070651.1:p.Ala1097Thr
2/6955 0.00014 5 Benign
View 16 2130190 2130190 C > T TSC2 TSC2 TSC2 NM_000548.3:c.3422C>T
NM_001114382.1:c.3422C>T
NM_001077183.1:c.3290C>T
NP_000539.2:p.Ala1141Val
NP_001107854.1:p.Ala1141Val
NP_001070651.1:p.Ala1097Val
17/6955 0.00122 5 Benign
View 16 2131755 2131755 C > T TSC2 TSC2 TSC2 NM_000548.3:c.3770C>T
NM_001114382.1:c.3770C>T
NM_001077183.1:c.3638C>T
NP_000539.2:p.Ala1257Val
NP_001107854.1:p.Ala1257Val
NP_001070651.1:p.Ala1213Val
4/6955 0.00029 5 non_synonymous Benign
View 16 2134982 2134984 CTT > - TSC2 TSC2 TSC2 NM_000548.3:c.4527_4529del
NM_001114382.1:c.4458_4460del
NM_001077183.1:c.4326_4328del
NP_000539.2:p.Phe1510del
NP_001107854.1:p.Phe1487del
NP_001070651.1:p.Phe1443del
56/6955 0.00403 4 Benign
View 16 2138546 2138546 G > A TSC2 TSC2 TSC2 NM_000548.3:c.5359G>A
NM_001114382.1:c.5290G>A
NM_001077183.1:c.5158G>A
NP_000539.2:p.Gly1787Ser
NP_001107854.1:p.Gly1764Ser
NP_001070651.1:p.Gly1720Ser
31/6955 0.00223 5 non_synonymous Benign
View 16 2144182 2144182 G > A PKD1 PKD1 ENST00000262304.4:c.10529C>T
ENST00000423118.1:c.10526C>T
ENSP00000262304.4:p.Thr3510Met
ENSP00000399501.1:p.Thr3509Met
126/6955 0.00927 5 Benign
View 16 2160828 2160828 G > A PKD1 PKD1 ENST00000262304.4:c.4340C>T
ENST00000423118.1:c.4340C>T
ENSP00000262304.4:p.Ala1447Val
ENSP00000399501.1:p.Ala1447Val
2/6955 0.00014 5 Benign
View 16 3632567 3632567 G > A SLX4 NM_032444.2:c.5281C>T
NP_115820.2:p.Arg1761Cys
32/6955 0.0023 1 Benign
View 16 3778363 3778363 C > T CREBBP CREBBP NM_001079846.1:c.6571G>A
NM_004380.2:c.6685G>A
NP_001073315.1:p.Gly2191Ser
NP_004371.2:p.Gly2229Ser
12/6956 0.00086 5 non_synonymous Benign
View 16 3779115 3779115 T > C CREBBP CREBBP NM_001079846.1:c.5819A>G
NM_004380.2:c.5933A>G
NP_001073315.1:p.Asn1940Ser
NP_004371.2:p.Asn1978Ser
70/6955 0.00503 5 Benign
View 16 3779329 3779329 C > T CREBBP CREBBP NM_001079846.1:c.5605G>A
NM_004380.2:c.5719G>A
NP_001073315.1:p.Ala1869Thr
NP_004371.2:p.Ala1907Thr
27/6955 0.00201 5 Benign
View 16 3820723 3820723 T > C CREBBP CREBBP NM_001079846.1:c.2614A>G
NM_004380.2:c.2728A>G
NP_001073315.1:p.Thr872Ala
NP_004371.2:p.Thr910Ala
30/6955 0.00216 5 ClinVar pathogenic variant Benign
View 16 3820879 3820879 G > A CREBBP CREBBP NM_001079846.1:c.2458C>T
NM_004380.2:c.2572C>T
NP_001073315.1:p.Pro820Ser
NP_004371.2:p.Pro858Ser
20/6955 0.00144 5 non_synonymous Benign
View 16 3831230 3831230 G > T CREBBP CREBBP NM_001079846.1:c.1537C>A
NM_004380.2:c.1651C>A
NP_001073315.1:p.Leu513Ile
NP_004371.2:p.Leu551Ile
107/6955 0.00776 5 non_synonymous Benign
View 16 9858502 9858502 C > G GRIN2A GRIN2A GRIN2A NM_001134408.1:c.2899G>C
NM_001134407.1:c.2899G>C
NM_000833.3:c.2899G>C
NP_001127880.1:p.Val967Leu
NP_001127879.1:p.Val967Leu
NP_000824.1:p.Val967Leu
109/6955 0.00784 5 non_synonymous Benign
View 16 16251531 16251531 C > T ABCC6 ENST00000205557.7:c.3871G>A
ENSP00000205557.7:p.Ala1291Thr
124/7355 0.00884 5 Benign
View 16 23200921 23200921 G > A SCNN1G NM_001039.3:c.547G>A
NP_001030.2:p.Gly183Ser
86/8745 0.00497 5 Benign
View 16 23457291 23457293 AAA > - COG7 NM_153603.3:c.170-11_170-9del
55/8745 0.00314 5 polypyrimidine_tract Benign
View 16 23649446 23649446 T > C PALB2 NM_024675.3:c.53A>G
NP_078951.2:p.Lys18Arg
12/6955 0.00086 1 Benign
View 16 29824787 29824787 C > G PRRT2 PRRT2 ENST00000358758.7:c.412C>G
ENST00000567659.1:c.412C>G
ENSP00000351608.7:p.Pro138Ala
ENSP00000456226.1:p.Pro138Ala
96/6955 0.00726 5 Benign
View 16 30732558 30732558 C > A SRCAP ENST00000262518.4:c.3302C>A
ENSP00000262518.4:p.Thr1101Lys
75/6955 0.00546 4 non_synonymous Benign
View 16 50745996 50745996 C > G NOD2 NM_022162.1:c.2174C>G
NP_071445.1:p.Ala725Gly
48/6955 0.00345 5 Benign
View 16 50756540 50756540 G > C NOD2 NM_022162.1:c.2722G>C
NP_071445.1:p.Gly908Arg
170/6955 0.01229 5 non_synonymous Benign
View 16 51175754 51175754 C > G SALL1 SALL1 NM_002968.2:c.379G>C
NM_001127892.1:c.88G>C
NP_002959.2:p.Val127Leu
NP_001121364.1:p.Val30Leu
37/6955 0.00266 3 non_synonymous Benign
View 16 51175841 51175841 T > C SALL1 SALL1 NM_002968.2:c.292A>G
NM_001127892.1:c.1A>G
NP_002959.2:p.Met98Val
NP_001121364.1:p.Met1?
28/6955 0.00201 4 changed from 2 to 4: loss_of_initiation Benign
View 16 53692694 53692694 A > G RPGRIP1L RPGRIP1L NM_001127897.1:c.1340T>C
NM_015272.2:c.1340T>C
NP_001121369.1:p.Leu447Ser
NP_056087.2:p.Leu447Ser
70/8745 0.004 5 Benign
View 16 56532346 56532346 T > C BBS2 ENST00000245157.5:c.1659+3A>G
98/6955 0.00755 5 Benign
View 16 56533706 56533706 G > A BBS2 ENST00000245157.5:c.1511C>T
ENSP00000245157.5:p.Ala504Val
61/6955 0.00453 5 Benign
View 16 56548501 56548501 C > T BBS2 ENST00000245157.5:c.209G>A
ENSP00000245157.5:p.Ser70Asn
6862/6967 0.97854 5 Benign
View 16 57493629 57493629 G > C COQ9 NM_020312.3:c.864G>C
NP_064708.1:p.Lys288Asn
79/8745 0.00463 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 16 68842578 68842578 C > T CDH1 NM_004360.3:c.532-18C>T
67/6916 0.00484 5 Benign
View 16 68856041 68856041 G > A CDH1 NM_004360.3:c.1849G>A
NP_004351.1:p.Ala617Thr
53/6955 0.00381 5 Benign
View 16 69364992 69364992 G > A COG8 NM_032382.4:c.1589C>T
NP_115758.3:p.Pro530Leu
44/8745 0.00252 5 non_synonymous Benign
View 16 81118207 81118208 - > A GCSH GCSH NM_004483.4:c.293-9dupT
NR_033249.1:n.326-9dupT
82/8745 0.00469 5 polypyrimidine_tract Benign
View 16 81942003 81942003 C > T PLCG2 ENST00000359376.3:c.1558-18C>T
57/6916 0.00427 5 three_prime_flank Benign
View 16 87723568 87723568 G > C JPH3 JPH3 NR_073379.2:n.1316G>C
NM_020655.3:c.1602G>C
NP_065706.2:p.Glu534Asp
54/6955 0.00395 5 non_synonymous Benign
View 16 88496285 88496285 G > T ZNF469 NM_001127464.1:c.2407G>T
NP_001120936.1:p.Ala803Ser
84/8745 0.0048 3 non_synonymous Benign
View 16 88497528 88497528 C > T ZNF469 NM_001127464.1:c.3566C>T
NP_001120936.1:p.Pro1189Leu
100/8745 0.00577 5 non_synonymous Benign
View 16 88500822 88500822 C > G ZNF469 NM_001127464.1:c.6860C>G
NP_001120936.1:p.Pro2287Arg
105/8745 0.00606 5 non_synonymous Benign
Displaying 200 through 250 of 797 variants