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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 50350995 50350995 C > T SHROOM4 SHROOM4 NM_020717.3:c.3147G>A
NR_027121.1:n.3173G>A
NP_065768.2:p.Met1049Ile
56/10521 0.00352 5 non_synonymous Benign
View X 50653796 50653796 A > C BMP15 NM_005448.2:c.13A>C
NP_005439.2:p.Ser5Arg
126/8685 0.01013 5 Benign
View X 53222195 53222195 C > T KDM5C KDM5C NM_001146702.1:c.4047-176G>A
NM_004187.3:c.4637G>A
NP_004178.2:p.Arg1546Gln
3/10521 0.00024 5 non_synonymous Benign
View X 53263460 53263460 C > T IQSEC2 IQSEC2 NM_001111125.2:c.4408G>A
NM_015075.1:c.*893G>A
NP_001104595.1:p.Ala1470Thr
113/8685 0.00823 5 non_synonymous Benign
View X 53602185 53602185 A > T HUWE1 NM_031407.5:c.6031-4T>A
59/10521 0.00385 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View X 53607786 53607786 C > T HUWE1 NM_031407.5:c.5716+5G>A
57/10521 0.00371 5 five_prime_flank Benign
View X 53635887 53635887 G > T HUWE1 NM_031407.5:c.2262-17C>A
57/10482 0.00382 5 three_prime_flank Benign
View X 66942625 66942625 G > A AR AR NM_000044.3:c.2450-44G>A
NM_001011645.2:c.854-44G>A
289/10485 0.01803 5 Benign
View X 67426446 67426446 G > A OPHN1 NM_002547.2:c.902C>T
NP_002538.1:p.Thr301Met
23/10521 0.00157 5 non_synonymous Benign
View X 68059812 68059812 C > T EFNB1 NM_004429.4:c.509C>T
NP_004420.1:p.Ala170Val
30/10521 0.00195 5 non_synonymous Benign
View X 68836358 68836358 G > T EDA EDA EDA EDA EDA NM_001005609.1:c.206G>T
NM_001005613.2:c.206G>T
NM_001005610.2:c.206G>T
NM_001005612.2:c.206G>T
NM_001399.4:c.206G>T
NP_001005609.1:p.Arg69Leu
NP_001005613.1:p.Arg69Leu
NP_001005610.2:p.Arg69Leu
NP_001005612.2:p.Arg69Leu
NP_001390.1:p.Arg69Leu
80/10521 0.00532 4 Benign
View X 69176938 69176938 G > A EDA EDA EDA NM_001005609.1:c.458G>A
NM_001005612.2:c.458G>A
NM_001399.4:c.458G>A
NP_001005609.1:p.Arg153His
NP_001005612.2:p.Arg153His
NP_001390.1:p.Arg153His
31/10521 0.00204 5 Benign
View X 69563562 69563562 G > T KIF4A ENST00000374403.3:c.1276G>T
ENSP00000363524.3:p.Ala426Ser
21/8685 0.00161 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 69665355 69665355 G > A DLG3 NM_021120.3:c.304G>A
NP_066943.2:p.Gly102Ser
57/10521 0.00366 5 non_synonymous Benign
View X 70357135 70357135 G > A MED12 NM_005120.2:c.5650G>A
NP_005111.2:p.Gly1884Ser
31/10521 0.00209 5 non_synonymous Benign
View X 70444261 70444261 T > G GJB1 GJB1 NM_000166.5:c.704T>G
NM_001097642.2:c.704T>G
NP_000157.1:p.Phe235Cys
NP_001091111.1:p.Phe235Cys
9/8685 0.00058 5 Benign
View X 71791977 71791978 - > A HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 HDAC8 NM_001166418.1:c.112-17dupT
NM_001166419.1:c.112-17dupT
NM_018486.2:c.112-17dupT
NM_001166448.1:c.112-17dupT
NM_001166420.1:c.112-17dupT
NM_001166422.1:c.112-17dupT
NR_051952.1:n.454-17dupT
28/8646 0.00162 5 three_prime_flank Benign
View X 73960146 73960146 G > A NEXMIF NM_001008537.2:c.4246C>T
NP_001008537.1:p.Pro1416Ser
54/8685 0.00374 5 non_synonymous Benign
View X 76856021 76856021 T > C ATRX ATRX NM_138270.2:c.5465A>G
NM_000489.3:c.5579A>G
NP_612114.1:p.Asn1822Ser
NP_000480.2:p.Asn1860Ser
109/10521 0.00665 5 ClinVar pathogenic variant Benign
View X 76938153 76938153 G > C ATRX ATRX NM_138270.2:c.2481C>G
NM_000489.3:c.2595C>G
NP_612114.1:p.His827Gln
NP_000480.2:p.His865Gln
112/10521 0.00699 5 non_synonymous Benign
View X 76939115 76939115 G > C ATRX ATRX NM_138270.2:c.1519C>G
NM_000489.3:c.1633C>G
NP_612114.1:p.Gln507Glu
NP_000480.2:p.Gln545Glu
24/10521 0.00152 5 non_synonymous Benign
View X 77224487 77224487 C > T ATP7A PGAM4 NM_000052.5:c.-21-2631C>T
NM_001029891.2:c.649G>A
NP_001025062.1:p.Val217Ile
2/10482 0.00014 3 non_synonymous Benign
View X 77294411 77294411 A > G ATP7A NM_000052.5:c.3589A>G
NP_000043.3:p.Asn1197Asp
5/10773 0.00028 5 non_synonymous Benign
View X 77301954 77301954 A > G ATP7A NM_000052.5:c.4390A>G
NP_000043.3:p.Ile1464Val
8/10773 0.00056 5 non_synonymous Benign
View X 100630121 100630121 G > A BTK NM_000061.2:c.141+11C>T
114/10485 0.00711 5 Benign
View X 100662901 100662901 G > A GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.-10C>T
NM_001199973.1:c.409-4023G>A
NM_001199974.1:c.286-4023G>A
1058/10521 0.06962 5 ClinVar Benign variant Benign
View X 100663660 100663660 C > G HNRNPH2 RPL36A-HNRNPH2 RPL36A-HNRNPH2 HNRNPH2 NM_001032393.2:c.-54+365C>G
NM_001199973.1:c.409-3264C>G
NM_001199974.1:c.286-3264C>G
NM_019597.4:c.-54+353C>G
68/8646 0.00578 5 Benign
View X 102192422 102192422 A > G RAB40AL NM_001031834.1:c.176A>G
NP_001027004.1:p.Asp59Gly
32/8685 0.00248 5 non_synonymous Benign
View X 102192423 102192423 C > A RAB40AL NM_001031834.1:c.177C>A
NP_001027004.1:p.Asp59Glu
31/8685 0.00242 5 non_synonymous Benign
View X 107834411 107834411 C > A COL4A5 COL4A5 NM_000495.4:c.1289C>A
NM_033380.2:c.1289C>A
NP_000486.1:p.Ala430Asp
NP_203699.1:p.Ala430Asp
66/10521 0.00413 5 non_synonymous Benign
View X 108924380 108924381 - > A ACSL4 ACSL4 NM_022977.2:c.640-16dupT
NM_004458.2:c.517-16dupT
139/10483 0.00835 5 three_prime_flank Benign
View X 110980029 110980029 G > C ALG13 ALG13 ALG13 ALG13 ALG13 NM_001257231.1:c.2383G>C
NM_001257234.1:c.2305G>C
NM_001257237.1:c.2305G>C
NM_001099922.2:c.2617G>C
NM_001257230.1:c.2305G>C
NP_001244160.1:p.Ala795Pro
NP_001244163.1:p.Ala769Pro
NP_001244166.1:p.Ala769Pro
NP_001093392.1:p.Ala873Pro
NP_001244159.1:p.Ala769Pro
6/8685 0.00052 5 non_synonymous Benign
View X 110988000 110988002 CCT > - ALG13 ALG13 ALG13 ALG13 ALG13 NM_001257231.1:c.2599_2601del
NM_001257234.1:c.2383+7926_2383+7928del
NM_001257237.1:c.2383+7926_2383+7928del
NM_001099922.2:c.2833_2835del
NM_001257230.1:c.2383+7926_2383+7928del
NP_001244160.1:p.Pro867del
NP_001093392.1:p.Pro945del
33/8685 0.00201 5 in_frame_indel Benign
View X 119005968 119005968 G > C NDUFA1 NM_004541.3:c.94G>C
NP_004532.1:p.Gly32Arg
93/10521 0.00542 5 ClinVar pathogenic variant Benign
View X 119573071 119573071 C > T LAMP2 LAMP2 LAMP2 NM_001122606.1:c.1093+2514G>A
NM_002294.2:c.1093+2514G>A
NM_013995.2:c.1171G>A
NP_054701.1:p.Val391Ile
92/8685 0.00691 5 Benign
View X 119581776 119581776 C > T LAMP2 LAMP2 LAMP2 NM_001122606.1:c.661G>A
NM_002294.2:c.661G>A
NM_013995.2:c.661G>A
NP_001116078.1:p.Gly221Arg
NP_002285.1:p.Gly221Arg
NP_054701.1:p.Gly221Arg
24/8685 0.00178 5 Benign
View X 122551245 122551245 T > A GRIA3 GRIA3 ENST00000371256.5:c.1501-8T>A
ENST00000264357.5:c.1501-8T>A
119/8685 0.00881 5 polypyrimidine_tract Benign
View X 123480540 123480540 C > T SH2D1A SH2D1A NM_001114937.2:c.48C>T
NM_002351.4:c.48C>T
NP_001108409.1:p.Gly16=
NP_002342.1:p.Gly16=
42/10521 0.00261 5 Benign
View X 130409697 130409697 A > G IGSF1 IGSF1 ENST00000370910.1:c.2912T>C
ENST00000370903.3:c.2954T>C
ENSP00000359947.1:p.Val971Ala
ENSP00000359940.3:p.Val985Ala
79/8685 0.00604 5 Benign
View X 135067686 135067686 G > T SLC9A6 SLC9A6 SLC9A6 NM_001177651.1:c.-57+50G>T
NM_001042537.1:c.25G>T
NM_006359.2:c.25G>T
NP_001036002.1:p.Ala9Ser
NP_006350.1:p.Ala9Ser
51/10521 0.00299 5 non_synonymous Benign
View X 135954484 135954486 ATA > - RBMX NM_001164803.1:c.559_561del
NP_001158275.1:p.Tyr187del
82/8646 0.0059 5 in_frame_indel Benign
View X 136648899 136648899 G > T ZIC3 NM_003413.3:c.49G>T
NP_003404.1:p.Gly17Cys
36/10521 0.00219 5 Benign
View X 139586919 139586919 G > T SOX3 NM_005634.2:c.307C>A
NP_005625.2:p.Pro103Thr
79/10521 0.00494 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 139587099 139587099 C > T SOX3 NM_005634.2:c.127G>A
NP_005625.2:p.Ala43Thr
112/10521 0.00722 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 139587212 139587212 C > T SOX3 NM_005634.2:c.14G>A
NP_005625.2:p.Arg5Gln
34/10521 0.00195 5 non_synonymous Benign
View X 147919205 147919205 C > A AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.1075-5285C>A
NM_001169124.1:c.1087-5285C>A
NM_001169123.1:c.1109C>A
NM_001170628.1:c.97-5285C>A
NM_001169125.1:c.1075-5285C>A
NM_002025.3:c.1121C>A
NP_001162594.1:p.Ser370Tyr
NP_002016.2:p.Ser374Tyr
5/10521 0.00029 5 non_synonymous Benign
View X 152845611 152845611 C > T ATP2B3 ATP2B3 NM_001001344.2:c.3518C>T
NM_021949.3:c.*150C>T
NP_001001344.1:p.Ala1173Val
48/8685 0.0038 5 non_synonymous Benign
View X 152954025 152954025 A > G SLC6A8 SLC6A8 NM_005629.3:c.-5A>G
NM_001142805.1:c.-5A>G
7004/10521 0.66282 5 ClinVar Benign variant Benign
View X 152959380 152959380 G > A SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.1162G>A
NM_001142805.1:c.1132G>A
NM_001142806.1:c.817G>A
NP_005620.1:p.Ala388Thr
NP_001136277.1:p.Ala378Thr
NP_001136278.1:p.Ala273Thr
4/10521 0.00024 5 non_synonymous Benign
View X 152959900 152959900 C > T SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.1494C>T
NM_001142805.1:c.1464C>T
NM_001142806.1:c.1149C>T
NP_005620.1:p.Tyr498=
NP_001136277.1:p.Tyr488=
NP_001136278.1:p.Tyr383=
60/10521 0.0038 5 five_prime_exonic Benign
Displaying 900 through 950 of 978 variants