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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 91292917 91292917 A > G BLM NM_000057.2:c.419A>G
NP_000048.1:p.Glu140Gly
31/6913 0.00231 5 non_synonymous Benign
View 16 2112521 2112521 C > A TSC2 NM_001077183.1:c.1281C>A
NM_001114382.1:c.1281C>A
NM_000548.3:c.1281C>A
NM_001077183.1:c.1281C>A(p.%3D)
NM_001114382.1:c.1281C>A(p.%3D)
NM_000548.3:c.1281C>A(p.%3D)
32/5119 0.00313 5 Benign
View 16 2124416 2124416 G > A TSC2 NM_001077183.1:c.2545+26G>A
NM_001114382.1:c.2545+26G>A
NM_000548.3:c.2545+26G>A
48/5101 0.0047 5 Benign
View 16 2130190 2130190 C > T TSC2 NM_001077183.1:c.3290C>T
NM_001114382.1:c.3422C>T
NM_000548.3:c.3422C>T
NP_001070651.1:p.Ala1097Val
NP_001107854.1:p.Ala1141Val
NP_000539.2:p.Ala1141Val
7/5119 0.00068 5 Benign
View 16 2138546 2138546 G > A TSC2 NM_001077183.1:c.5158G>A
NM_001114382.1:c.5290G>A
NM_000548.3:c.5359G>A
NP_001070651.1:p.Gly1720Ser
NP_001107854.1:p.Gly1764Ser
NP_000539.2:p.Gly1787Ser
23/5119 0.00225 5 non_synonymous Benign
View 16 3632567 3632567 G > A SLX4 NM_032444.2:c.5281C>T
NP_115820.2:p.Arg1761Cys
18/5119 0.00176 3 non_synonymous Benign
View 16 3778363 3778363 C > T CREBBP NM_004380.2:c.6685G>A
NM_001079846.1:c.6571G>A
NP_004371.2:p.Gly2229Ser
NP_001073315.1:p.Gly2191Ser
10/5120 0.00098 5 non_synonymous Benign
View 16 3779329 3779329 C > T CREBBP NM_004380.2:c.5719G>A
NM_001079846.1:c.5605G>A
NP_004371.2:p.Ala1907Thr
NP_001073315.1:p.Ala1869Thr
23/5119 0.00234 5 Benign
View 16 3820723 3820723 T > C CREBBP NM_004380.2:c.2728A>G
NM_001079846.1:c.2614A>G
NP_004371.2:p.Thr910Ala
NP_001073315.1:p.Thr872Ala
25/5119 0.00244 5 ClinVar pathogenic variant Benign
View 16 3820879 3820879 G > A CREBBP NM_004380.2:c.2572C>T
NM_001079846.1:c.2458C>T
NP_004371.2:p.Pro858Ser
NP_001073315.1:p.Pro820Ser
13/5119 0.00127 5 non_synonymous Benign
View 16 3831230 3831230 G > T CREBBP NM_004380.2:c.1651C>A
NM_001079846.1:c.1537C>A
NP_004371.2:p.Leu551Ile
NP_001073315.1:p.Leu513Ile
84/5119 0.0083 5 non_synonymous Benign
View 16 9858502 9858502 C > G GRIN2A NM_001134408.1:c.2899G>C
NM_000833.3:c.2899G>C
NM_001134407.1:c.2899G>C
NP_001127880.1:p.Val967Leu
NP_000824.1:p.Val967Leu
NP_001127879.1:p.Val967Leu
93/5119 0.00908 5 non_synonymous Benign
View 16 23200921 23200921 G > A SCNN1G NM_001039.3:c.547G>A
NP_001030.2:p.Gly183Ser
62/6913 0.00456 5 Benign
View 16 23457291 23457293 AAA > - COG7 NM_153603.3:c.170-11_170-9del
26/6913 0.00188 5 polypyrimidine_tract Benign
View 16 23649446 23649446 T > C PALB2 NM_024675.3:c.53A>G
NP_078951.2:p.Lys18Arg
6/5119 0.00059 1 Benign
View 16 29824787 29824787 C > G PRRT2 ENST00000358758.7:c.412C>G
ENST00000567659.1:c.412C>G
ENST00000300797.6:c.412C>G
ENSP00000351608.7:p.Pro138Ala
ENSP00000456226.1:p.Pro138Ala
ENSP00000300797.6:p.Pro138Ala
66/5119 0.00674 5 Benign
View 16 30732558 30732558 C > A SRCAP ENST00000262518.4:c.3302C>A
ENSP00000262518.4:p.Thr1101Lys
49/5119 0.00488 4 non_synonymous Benign
View 16 51175754 51175754 C > G SALL1 NM_002968.2:c.379G>C
NM_001127892.1:c.88G>C
NP_002959.2:p.Val127Leu
NP_001121364.1:p.Val30Leu
26/5119 0.00254 5 non_synonymous Benign
View 16 51175841 51175841 T > C SALL1 NM_002968.2:c.292A>G
NM_001127892.1:c.1A>G
NP_002959.2:p.Met98Val
NP_001121364.1:p.Met1?
16/5119 0.00156 4 changed from 2 to 4: loss_of_initiation Benign
View 16 53692694 53692694 A > G RPGRIP1L NM_015272.2:c.1340T>C
NM_001127897.1:c.1340T>C
NP_056087.2:p.Leu447Ser
NP_001121369.1:p.Leu447Ser
53/6913 0.00383 5 Benign
View 16 56532346 56532346 T > C BBS2 ENST00000245157.5:c.1659+3A>G
66/5119 0.00684 5 Benign
View 16 57493629 57493629 G > C COQ9 NM_020312.3:c.864G>C
NP_064708.1:p.Lys288Asn
61/6913 0.00456 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
32/6913 0.00231 5 non_synonymous Benign
View 16 81118207 81118208 - > A GCSH NR_033249.1:n.326-9dupT
NM_004483.4:c.293-9dupT
58/6913 0.00419 5 polypyrimidine_tract Benign
View 16 81942003 81942003 C > T PLCG2 NM_002661.3:c.1558-18C>T
41/5101 0.00421 5 three_prime_flank Benign
View 16 88496285 88496285 G > T ZNF469 NM_001127464.1:c.2407G>T
NP_001120936.1:p.Ala803Ser
68/6913 0.00492 3 non_synonymous Benign
View 16 88497528 88497528 C > T ZNF469 NM_001127464.1:c.3566C>T
NP_001120936.1:p.Pro1189Leu
69/6913 0.00499 5 non_synonymous Benign
View 16 88500822 88500822 C > G ZNF469 NM_001127464.1:c.6860C>G
NP_001120936.1:p.Pro2287Arg
80/6913 0.00586 5 non_synonymous Benign
View 16 89253891 89253891 C > T CDH15 NM_004933.2:c.718C>T
NP_004924.1:p.Leu240Phe
17/5119 0.00166 5 non_synonymous Benign
View 16 89390908 89390908 G > A ANKRD11 LOC100287036 NM_001256182.1:c.-59-7422C>T
NM_013275.5: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
22/5101 0.00216 5 non_synonymous Benign
View 17 3550800 3550800 G > A CTNS NM_001031681.2:c.124G>A
NM_004937.2:c.124G>A
NP_001026851.2:p.Val42Ile
NP_004928.2:p.Val42Ile
68/6913 0.00506 5 Benign
View 17 4937413 4937413 G > A SLC52A1 NM_017986.3:c.371C>T
NM_001104577.1:c.371C>T
NP_060456.3:p.Ala124Val
NP_001098047.1:p.Ala124Val
11/5119 0.00107 3 non_synonymous Benign
View 17 7123352 7123352 C > T ACADVL DLG4 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
58/6913 0.00434 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 17 7123838 7123838 C > T ACADVL NM_001270447.1:c.263C>T
NM_000018.3:c.194C>T
NM_001270448.1:c.-35C>T
NM_001033859.2:c.139-85C>T
NP_001257376.1:p.Pro88Leu
NP_000009.1:p.Pro65Leu
96/6913 0.00723 5 Benign
View 17 10539089 10539089 G > A MYH3 NM_002470.3:c.3938C>T
NP_002461.2:p.Thr1313Ile
60/5119 0.00615 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
87/5119 0.0085 5 non_synonymous Benign
View 17 14110391 14110391 G > A COX10 NM_001303.3:c.1193G>A
NP_001294.2:p.Arg398His
7/6913 0.00051 5 non_synonymous Benign
View 17 17696987 17696987 C > T RAI1 NM_030665.3:c.725C>T
NP_109590.3:p.Pro242Leu
49/5121 0.00508 5 Benign
View 17 29496957 29496957 T > A 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
27/5119 0.00264 5 Benign
View 17 29509641 29509641 G > A NF1 NM_000267.3:c.846G>A
NM_001042492.2:c.846G>A
NM_001128147.2:c.846G>A
NM_000267.3:c.846G>A(p.%3D)
NM_001042492.2:c.846G>A(p.%3D)
NM_001128147.2:c.846G>A(p.%3D)
32/5119 0.00313 5 Benign
View 17 29631609 29631609 G > C 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
2/5101 0.0002 5 non_synonymous Benign
View 17 29631870 29631870 C > A 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
12/5101 0.00118 5 non_synonymous Benign
View 17 29677184 29677184 C > T NF1 NM_001042492.2:c.7322-17C>T
NM_000267.3:c.7259-17C>T
41/5101 0.00402 5 Benign
View 17 36091625 36091625 G > T HNF1B NM_000458.2:c.1006C>A
NM_001165923.1:c.928C>A
NP_000449.1:p.His336Asn
NP_001159395.1:p.His310Asn
1/5119 0.0001 1 Benign
View 17 40689453 40689453 T > A NAGLU NM_000263.3:c.421T>A
NP_000254.2:p.Ser141Thr
53/5771 0.00494 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
45/6913 0.00333 5 non_synonymous Benign
View 17 42426587 42426587 C > T GRN NM_002087.2:c.55C>T
NP_002078.1:p.Arg19Trp
34/5119 0.00361 4 non_synonymous Benign
View 17 42457677 42457677 G > T ITGA2B NM_000419.3:c.1545-8C>A
22/5120 0.00215 5 polypyrimidine_tract Benign
View 17 44248903 44248903 C > G KANSL1 ENST00000572904.1:c.607G>C
ENST00000262419.6:c.607G>C
ENST00000432791.1:c.607G>C
ENSP00000461484.1:p.Gly203Arg
ENSP00000262419.6:p.Gly203Arg
ENSP00000387393.1:p.Gly203Arg
11/5119 0.00117 5 non_synonymous Benign
View 17 48263786 48263786 G > A COL1A1 ENST00000225964.5:c.3897C>T
ENST00000225964.5:c.3897C>T(p.%3D)
22/5771 0.00191 1 Benign
Displaying 150 through 200 of 560 variants