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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 16 23457291 23457293 AAA > - COG7 NM_153603.3:c.170-11_170-9del
37/8004 0.00231 5 polypyrimidine_tract Benign
View 16 23649446 23649446 T > C PALB2 NM_024675.3:c.53A>G
NP_078951.2:p.Lys18Arg
9/6213 0.00072 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
84/6213 0.00716 5 Benign
View 16 30732558 30732558 C > A SRCAP ENST00000262518.4:c.3302C>A
ENSP00000262518.4:p.Thr1101Lys
60/6213 0.00491 4 non_synonymous Benign
View 16 50756540 50756540 G > C NOD2 NM_022162.1:c.2722G>C
NP_071445.1:p.Gly908Arg
145/6213 0.01175 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
35/6213 0.00282 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?
24/6213 0.00193 4 changed from 2 to 4: loss_of_initiation Benign
View 16 53692694 53692694 A > G RPGRIP1L RPGRIP1L NM_015272.2:c.1340T>C
NM_001127897.1:c.1340T>C
NP_056087.2:p.Leu447Ser
NP_001121369.1:p.Leu447Ser
62/8004 0.00387 5 Benign
View 16 56532346 56532346 T > C BBS2 ENST00000245157.5:c.1659+3A>G
81/6213 0.007 5 Benign
View 16 56533706 56533706 G > A BBS2 ENST00000245157.5:c.1511C>T
ENSP00000245157.5:p.Ala504Val
50/6213 0.00418 5 Benign
View 16 56548501 56548501 C > T BBS2 ENST00000245157.5:c.209G>A
ENSP00000245157.5:p.Ser70Asn
6120/6225 0.97711 5 Benign
View 16 57493629 57493629 G > C COQ9 NM_020312.3:c.864G>C
NP_064708.1:p.Lys288Asn
72/8004 0.00462 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 16 69364992 69364992 G > A COG8 NM_032382.4:c.1589C>T
NP_115758.3:p.Pro530Leu
38/8004 0.00237 5 non_synonymous Benign
View 16 81118207 81118208 - > A GCSH GCSH NR_033249.1:n.326-9dupT
NM_004483.4:c.293-9dupT
73/8004 0.00456 5 polypyrimidine_tract Benign
View 16 81942003 81942003 C > T PLCG2 ENST00000359376.3:c.1558-18C>T
49/6174 0.00413 5 three_prime_flank Benign
View 16 88496285 88496285 G > T ZNF469 NM_001127464.1:c.2407G>T
NP_001120936.1:p.Ala803Ser
77/8004 0.00481 3 non_synonymous Benign
View 16 88497528 88497528 C > T ZNF469 NM_001127464.1:c.3566C>T
NP_001120936.1:p.Pro1189Leu
82/8004 0.00512 5 non_synonymous Benign
View 16 88500822 88500822 C > G ZNF469 NM_001127464.1:c.6860C>G
NP_001120936.1:p.Pro2287Arg
91/8004 0.00575 5 non_synonymous Benign
View 16 88802648 88802648 G > C LOC100289580 PIEZO1 NR_103774.1:n.270-1581G>C
NM_001142864.2:c.1465C>G
NP_001136336.2:p.Arg489Gly
13/6213 0.00113 5 non_synonymous Benign
View 16 89253891 89253891 C > T CDH15 NM_004933.2:c.718C>T
NP_004924.1:p.Leu240Phe
21/6213 0.00169 5 non_synonymous Benign
View 16 89347612 89347612 C > T ANKRD11 ANKRD11 ANKRD11 NM_013275.5:c.5338G>A
NM_001256182.1:c.5338G>A
NM_001256183.1:c.5338G>A
NP_037407.4:p.Ala1780Thr
NP_001243111.1:p.Ala1780Thr
NP_001243112.1:p.Ala1780Thr
86/6213 0.00692 5 non_synonymous Benign
View 16 89354918 89354918 G > C ANKRD11 ANKRD11 ANKRD11 ANKRD11 NM_013275.5:c.744+18C>G
NM_001256182.1:c.744+18C>G
NR_045839.1:n.1575+18C>G
NM_001256183.1:c.744+18C>G
63/6175 0.0051 5 five_prime_intronic Benign
View 16 89390908 89390908 G > A ANKRD11 ANKRD11 ANKRD11 ANKRD11 LOC100287036 NM_013275.5:c.-59-7422C>T
NM_001256182.1:c.-59-7422C>T
NR_045839.1:n.403-7422C>T
NM_001256183.1:c.-56-7425C>T
NM_001242885.1:c.293G>A
NP_001229814.1:p.Ser98Asn
28/6174 0.00227 5 non_synonymous Benign
View 17 465994 465997 AAAA > - VPS53 VPS53 NM_018289.3:c.1227-12_1227-9del
NM_001128159.2:c.1314-12_1314-9del
6/6213 0.00048 5 polypyrimidine_tract Benign
View 17 3550800 3550800 G > A CTNS CTNS NM_001031681.2:c.124G>A
NM_004937.2:c.124G>A
NP_001026851.2:p.Val42Ile
NP_004928.2:p.Val42Ile
79/8004 0.00518 5 Benign
View 17 4937413 4937413 G > A SLC52A1 SLC52A1 NM_017986.3:c.371C>T
NM_001104577.1:c.371C>T
NP_060456.3:p.Ala124Val
NP_001098047.1:p.Ala124Val
11/6213 0.00089 3 non_synonymous Benign
View 17 7123352 7123352 C > T ACADVL ACADVL DLG4 ACADVL ACADVL NM_000018.3:c.49C>T
NM_001270448.1:c.-255C>T
NM_001365.3:c.-1184G>A
NM_001033859.2:c.49C>T
NM_001270447.1:c.132-89C>T
NP_000009.1:p.Leu17Phe
NP_001029031.1:p.Leu17Phe
73/8004 0.00469 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 17 7123838 7123838 C > T ACADVL ACADVL ACADVL ACADVL NM_000018.3:c.194C>T
NM_001270448.1:c.-35C>T
NM_001033859.2:c.139-85C>T
NM_001270447.1:c.263C>T
NP_000009.1:p.Pro65Leu
NP_001257376.1:p.Pro88Leu
111/8004 0.00718 5 Benign
View 17 10303756 10303756 A > G MYH8 NM_002472.2:c.3686T>C
NP_002463.2:p.Met1229Thr
120/6213 0.00966 5 non_synonymous Benign
View 17 10539089 10539089 G > A MYH3 NM_002470.3:c.3938C>T
NP_002461.2:p.Thr1313Ile
78/6213 0.0066 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 17 10541497 10541497 C > T MYH3 NM_002470.3:c.3592G>A
NP_002461.2:p.Ala1198Thr
102/6213 0.00821 5 non_synonymous Benign
View 17 10543133 10543133 G > T MYH3 NM_002470.3:c.2683-14C>A
13/6174 0.00105 5 polypyrimidine_tract Benign
View 17 14110391 14110391 G > A COX10 NM_001303.3:c.1193G>A
NP_001294.2:p.Arg398His
7/8004 0.00044 5 non_synonymous Benign
View 17 17696987 17696987 C > T RAI1 NM_030665.3:c.725C>T
NP_109590.3:p.Pro242Leu
55/6215 0.00467 5 Benign
View 17 17697097 17697105 CAGCAGCAG > - RAI1 NM_030665.3:c.864_872del
NP_109590.3:p.Gln289_Gln291del
33/6213 0.00266 5 in_frame_indel Benign
View 17 29326155 29326155 G > T RNF135 RNF135 RNF135 NM_032322.3:c.1245G>T
NM_001184992.1:c.*449G>T
NM_197939.1:c.*449G>T
NP_115698.3:p.Trp415Cys
106/6213 0.00853 5 non_synonymous Benign
View 17 29496957 29496957 T > A NF1 NF1 NF1 NM_000267.3:c.528T>A
NM_001042492.2:c.528T>A
NM_001128147.2:c.528T>A
NP_000258.1:p.Asp176Glu
NP_001035957.1:p.Asp176Glu
NP_001121619.1:p.Asp176Glu
32/6213 0.00258 5 Benign
View 17 29509641 29509641 G > A NF1 NF1 NF1 NM_000267.3:c.846G>A
NM_001042492.2:c.846G>A
NM_001128147.2:c.846G>A
NP_000258.1:p.Gln282=
NP_001035957.1:p.Gln282=
NP_001121619.1:p.Gln282=
40/6213 0.00322 5 ClinVar probable-non-pathogenic variant Benign
View 17 29631609 29631609 G > C NF1 NF1 EVI2B NM_000267.3:c.4773-21229G>C
NM_001042492.2:c.4836-21229G>C
NM_006495.3:c.1019C>G
NP_006486.3:p.Pro340Arg
3/6174 0.00024 5 non_synonymous Benign
View 17 29631870 29631870 C > A NF1 NF1 EVI2B NM_000267.3:c.4773-20968C>A
NM_001042492.2:c.4836-20968C>A
NM_006495.3:c.758G>T
NP_006486.3:p.Cys253Phe
14/6174 0.00113 5 non_synonymous Benign
View 17 29677184 29677184 C > T NF1 NF1 NM_000267.3:c.7259-17C>T
NM_001042492.2:c.7322-17C>T
48/6174 0.00389 5 Benign
View 17 33904939 33904939 T > A PEX12 NM_000286.2:c.102A>T
NP_000277.1:p.Arg34Ser
92/8004 0.00581 4 Benign
View 17 36091625 36091625 G > T HNF1B HNF1B NM_000458.2:c.1006C>A
NM_001165923.1:c.928C>A
NP_000449.1:p.His336Asn
NP_001159395.1:p.His310Asn
1/6213 8.0e-05 1 Benign
View 17 40689453 40689453 T > A NAGLU NM_000263.3:c.421T>A
NP_000254.2:p.Ser141Thr
71/6865 0.00568 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 17 42082213 42082213 A > G NAGS NM_153006.2:c.182A>G
NP_694551.1:p.Glu61Gly
61/8004 0.00387 5 non_synonymous Benign
View 17 42328621 42328621 G > A SLC4A1 NM_000342.3:c.2561C>T
NP_000333.1:p.Pro854Leu
45/6215 0.0037 5 ClinVar pathogenic variant Benign
View 17 42426587 42426587 C > T GRN NM_002087.2:c.55C>T
NP_002078.1:p.Arg19Trp
43/6213 0.0037 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 17 42457677 42457677 G > T ITGA2B NM_000419.3:c.1545-8C>A
35/6214 0.00282 5 polypyrimidine_tract Benign
View 17 44248903 44248903 C > G KANSL1 KANSL1 KANSL1 ENST00000432791.1:c.607G>C
ENST00000262419.6:c.607G>C
ENST00000574590.1:c.607G>C
ENSP00000387393.1:p.Gly203Arg
ENSP00000262419.6:p.Gly203Arg
ENSP00000461812.1:p.Gly203Arg
11/6213 0.00097 5 non_synonymous Benign
View 17 48263786 48263786 G > A COL1A1 ENST00000225964.5:c.3897C>T
ENSP00000225964.5:p.Cys1299=
24/6865 0.00175 1 Benign
Displaying 200 through 250 of 706 variants