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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 6 43018912 43018912 G > A CUL7 CUL7 NM_014780.4:c.1027C>T
NM_001168370.1:c.1279C>T
NP_055595.2:p.Pro343Ser
NP_001161842.1:p.Pro427Ser
48/6213 0.00394 5 non_synonymous Benign
View 6 51612837 51612837 C > T PKHD1 PKHD1 NM_138694.3:c.9577G>A
NM_170724.2:c.9577G>A
NP_619639.3:p.Val3193Ile
NP_733842.2:p.Val3193Ile
75/8004 0.00506 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 6 51776761 51776762 AA > - PKHD1 PKHD1 NM_138694.3:c.6333-8_6333-7del
NM_170724.2:c.6333-8_6333-7del
117/8004 0.00762 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 6 51890922 51890922 C > G PKHD1 PKHD1 NM_138694.3:c.3686G>C
NM_170724.2:c.3686G>C
NP_619639.3:p.Trp1229Ser
NP_733842.2:p.Trp1229Ser
45/8004 0.00281 4 Benign
View 6 51930887 51930888 AA > - PKHD1 PKHD1 NM_138694.3:c.779-13_779-12del
NM_170724.2:c.779-13_779-12del
33/7965 0.0022 5 polypyrimidine_tract Benign
View 6 70980006 70980006 A > G COL9A1 COL9A1 NM_078485.3:c.468+11T>C
NM_001851.4:c.1197+11T>C
16/6175 0.0013 5 five_prime_intronic Benign
View 6 88182728 88182728 G > T SLC35A1 SLC35A1 NM_006416.4:c.7G>T
NM_001168398.1:c.7G>T
NP_006407.1:p.Ala3Ser
NP_001161870.1:p.Ala3Ser
40/8004 0.00269 5 non_synonymous Benign
View 6 107955663 107955663 A > G SOBP NM_018013.3:c.1615A>G
NP_060483.3:p.Ile539Val
55/6213 0.00443 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 6 129513850 129513850 T > A LAMA2 ENST00000421865.2:c.1634T>A
ENSP00000400365.2:p.Leu545Gln
54/8004 0.00337 3 non_synonymous Benign
View 6 129824406 129824406 A > G LAMA2 ENST00000421865.2:c.8528A>G
ENSP00000400365.2:p.Asn2843Ser
92/8004 0.00575 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 6 134210600 134210600 G > T TCF21 TCF21 NM_003206.3:c.65G>T
NM_198392.2:c.65G>T
NP_003197.2:p.Gly22Val
NP_938206.1:p.Gly22Val
187/6213 0.01569 5 Benign
View 6 135644371 135644371 T > C AHI1 AHI1 AHI1 NM_001134830.1:c.3257A>G
NM_017651.4:c.3257A>G
NM_001134831.1:c.3257A>G
NP_001128302.1:p.Glu1086Gly
NP_060121.3:p.Glu1086Gly
NP_001128303.1:p.Glu1086Gly
25/8004 0.00156 5 Benign
View 6 151726371 151726371 C > T RMND1 RMND1 NM_017909.3:c.1349G>A
NM_001271937.1:c.839G>A
NP_060379.2:p.Ter450=
NP_001258866.1:p.Ter280=
56/6213 0.00451 5 Benign
View 6 151766807 151766807 C > T RMND1 RMND1 NM_017909.3:c.140G>A
NM_001271937.1:c.-7+6344G>A
NP_060379.2:p.Arg47His
26/6213 0.00209 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 6 157099405 157099406 - > CAG ARID1B ARID1B NM_017519.2:c.360_362dupGCA
NM_020732.3:c.360_362dupGCA
NP_059989.2:p.Gln131dup
NP_065783.3:p.Gln131dup
23/6213 0.00185 3 in_frame_indel Benign
View 6 157099426 157099427 - > CAG ARID1B ARID1B NM_017519.2:c.384_386dupGCA
NM_020732.3:c.384_386dupGCA
NP_059989.2:p.Gln131dup
NP_065783.3:p.Gln131dup
18/6214 0.00145 5 in_frame_indel Benign
View 6 157099799 157099799 G > A ARID1B ARID1B NM_017519.2:c.736G>A
NM_020732.3:c.736G>A
NP_059989.2:p.Gly246Ser
NP_065783.3:p.Gly246Ser
59/6213 0.00483 5 non_synonymous Benign
View 6 157454209 157454209 C > T ARID1B ARID1B NM_017519.2:c.2380C>T
NM_020732.3:c.2419C>T
NP_059989.2:p.Pro794Ser
NP_065783.3:p.Pro807Ser
18/6213 0.00145 5 non_synonymous Benign
View 6 157488190 157488190 G > A ARID1B ARID1B NM_017519.2:c.2857G>A
NM_020732.3:c.2896G>A
NP_059989.2:p.Gly953Ser
NP_065783.3:p.Gly966Ser
14/6213 0.00113 5 non_synonymous Benign
View 6 162206892 162206892 T > C PRKN PRKN PRKN NM_013988.2:c.336A>G
NM_004562.2:c.783A>G
NM_013987.2:c.699A>G
NP_054643.2:p.Leu112=
NP_004553.2:p.Leu261=
NP_054642.2:p.Leu233=
135/6213 0.01127 5 Benign
View 7 193245 193245 G > T FAM20C NM_020223.3:c.46G>T
NP_064608.2:p.Val16Leu
38/8004 0.00237 5 non_synonymous Benign
View 7 6026864 6026864 G > A PMS2 PMS2 NR_003085.2:n.1614C>T
ENST00000265849.7:c.1532C>T
ENSP00000265849.7:p.Thr511Met
74/6213 0.00612 5 Benign
View 7 6045634 6045634 T > C PMS2 PMS2 NR_003085.2:n.134A>G
ENST00000265849.7:c.52A>G
ENSP00000265849.7:p.Ile18Val
103/6213 0.00829 5 Benign
View 7 33397560 33397560 C > T BBS9 BBS9 BBS9 BBS9 NM_198428.2:c.1646C>T
NM_014451.3:c.1526C>T
NM_001033605.1:c.1631C>T
NM_001033604.1:c.1541C>T
NP_940820.1:p.Thr549Ile
NP_055266.2:p.Thr509Ile
NP_001028777.1:p.Thr544Ile
NP_001028776.1:p.Thr514Ile
31/6213 0.00249 4 Benign
View 7 40132656 40132656 G > A CDK13 CDK13 NM_031267.3:c.3328G>A
NM_003718.4:c.3508G>A
NP_112557.2:p.Val1110Met
NP_003709.3:p.Val1170Met
73/6174 0.00607 4 non_synonymous Benign
View 7 42007446 42007446 C > T GLI3 NM_000168.5:c.2179G>A
NP_000159.3:p.Gly727Arg
54/6213 0.00443 5 Benign
View 7 42116380 42116380 G > A GLI3 NM_000168.5:c.444C>T
NP_000159.3:p.Tyr148=
9/6213 0.00072 5 Benign
View 7 44228522 44228522 C > T GCK NM_000162.3:c.31G>A
NP_000153.1:p.Ala11Thr
28/6213 0.00233 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 7 50595920 50595920 G > A DDC DDC DDC DDC DDC ENST00000380984.4:c.629C>T
ENST00000426377.1:c.395C>T
ENST00000431062.1:c.435+9638C>T
ENST00000444124.2:c.629C>T
ENST00000357936.5:c.629C>T
ENSP00000370371.4:p.Pro210Leu
ENSP00000395069.1:p.Pro132Leu
ENSP00000403644.2:p.Pro210Leu
ENSP00000350616.5:p.Pro210Leu
44/8004 0.00281 5 non_synonymous Benign
View 7 69364347 69364347 C > G AUTS2 AUTS2 AUTS2 NM_001127232.1:c.385C>G
NM_001127231.1:c.385C>G
NM_015570.2:c.385C>G
NP_001120704.1:p.Leu129Val
NP_001120703.1:p.Leu129Val
NP_056385.1:p.Leu129Val
7/6213 0.00056 5 non_synonymous Benign
View 7 70255579 70255580 - > CCACCA AUTS2 AUTS2 NM_001127231.1:c.3323_3328dupACCACC
NM_015570.2:c.3395_3400dupACCACC
NP_001120703.1:p.His1108_His1109dup
NP_056385.1:p.His1132_His1133dup
12/6213 0.00097 4 in_frame_indel Benign
View 7 73477524 73477524 G > A ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN NM_001278915.1:c.1846G>A
NM_001278917.1:c.1798G>A
NM_001278916.1:c.1684G>A
NM_001278913.1:c.1585G>A
NM_000501.3:c.1828G>A
NM_001081755.2:c.1771G>A
NM_001278912.1:c.1828G>A
NM_001081754.2:c.1843G>A
NM_001278939.1:c.2014G>A
NM_001278918.1:c.1561G>A
NM_001081752.2:c.1741G>A
NM_001081753.2:c.1786G>A
NM_001278914.1:c.1756G>A
NP_001265844.1:p.Gly616Ser
NP_001265846.1:p.Gly600Ser
NP_001265845.1:p.Gly562Ser
NP_001265842.1:p.Gly529Ser
NP_000492.2:p.Gly610Ser
NP_001075224.1:p.Gly591Ser
NP_001265841.1:p.Gly610Ser
NP_001075223.1:p.Gly615Ser
NP_001265868.1:p.Gly672Ser
NP_001265847.1:p.Gly521Ser
NP_001075221.1:p.Gly581Ser
NP_001075222.1:p.Gly596Ser
NP_001265843.1:p.Gly586Ser
14/6213 0.00113 5 non_synonymous Benign
View 7 73482987 73482987 G > A ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN NM_001278915.1:c.2150G>A
NM_001278917.1:c.2102G>A
NM_001278916.1:c.1934G>A
NM_001278913.1:c.1889G>A
NM_000501.3:c.2132G>A
NM_001081755.2:c.2075G>A
NM_001278912.1:c.2078G>A
NM_001081754.2:c.2093G>A
NM_001278939.1:c.2318G>A
NM_001278918.1:c.1811G>A
NM_001081752.2:c.1991G>A
NM_001081753.2:c.2036G>A
NM_001278914.1:c.2060G>A
NP_001265844.1:p.Gly717Asp
NP_001265846.1:p.Gly701Asp
NP_001265845.1:p.Gly645Asp
NP_001265842.1:p.Gly630Asp
NP_000492.2:p.Gly711Asp
NP_001075224.1:p.Gly692Asp
NP_001265841.1:p.Gly693Asp
NP_001075223.1:p.Gly698Asp
NP_001265868.1:p.Gly773Asp
NP_001265847.1:p.Gly604Asp
NP_001075221.1:p.Gly664Asp
NP_001075222.1:p.Gly679Asp
NP_001265843.1:p.Gly687Asp
53/6213 0.00427 5 Benign
View 7 82784472 82784501 del > - PCLO PCLO NM_033026.5:c.1456_1485del
NM_014510.2:c.1456_1485del
NP_149015.2:p.Pro486_Gly-4152del
NP_055325.2:p.Pro486_Gly-3945del
41/6213 0.00338 5 in_frame_indel Benign
View 7 87082273 87082273 T > C ABCB4 ABCB4 ABCB4 NM_000443.3:c.523A>G
NM_018850.2:c.523A>G
NM_018849.2:c.523A>G
NP_000434.1:p.Thr175Ala
NP_061338.1:p.Thr175Ala
NP_061337.1:p.Thr175Ala
123/8412 0.00731 5 Benign
View 7 94227275 94227275 C > T SGCE SGCE SGCE NM_001099401.1:c.1295G>A
NM_003919.2:c.1253+812G>A
NM_001099400.1:c.1226+812G>A
NP_001092871.1:p.Ser432Asn
59/6213 0.00515 5 non_synonymous Benign
View 7 103155665 103155665 C > T RELN RELN NM_173054.2:c.8086G>A
NM_005045.3:c.8086G>A
NP_774959.1:p.Ala2696Thr
NP_005036.2:p.Ala2696Thr
64/8004 0.00406 5 non_synonymous Benign
View 7 103206001 103206002 - > AA RELN RELN NM_173054.2:c.4937-5_4937-4dupTT
NM_005045.3:c.4937-5_4937-4dupTT
116/8004 0.00731 5 reclassified from 3 to 5 polypyrimidine_tract Benign
View 7 103207214 103207214 A > C RELN RELN NM_173054.2:c.4589-8T>G
NM_005045.3:c.4589-8T>G
81/8004 0.00506 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 7 103251218 103251218 T > C RELN RELN NM_173054.2:c.2932A>G
NM_005045.3:c.2932A>G
NP_774959.1:p.Thr978Ala
NP_005036.2:p.Thr978Ala
69/8004 0.00431 5 non_synonymous Benign
View 7 107329489 107329489 A > C SLC26A4 NM_000441.1:c.1002-9A>C
22/6214 0.00177 5 Benign
View 7 107335087 107335087 A > T SLC26A4 NM_000441.1:c.1363A>T
NP_000432.1:p.Ile455Phe
5/6213 0.00048 5 Benign
View 7 116411990 116411990 C > T MET MET NM_000245.2:c.2975C>T
NM_001127500.1:c.3029C>T
NP_000236.2:p.Thr992Ile
NP_001120972.1:p.Thr1010Ile
110/6213 0.00909 5 Benign
View 7 117188736 117188736 C > A CFTR NM_000492.3:c.1251C>A
NP_000483.3:p.Asn417Lys
4589/8191 0.28025 5 non_synonymous Benign
View 7 117188750 117188750 C > T CFTR NM_000492.3:c.1265C>T
NP_000483.3:p.Ser422Phe
2466/8184 0.15078 5 non_synonymous Benign
View 7 117188797 117188797 A > G CFTR NM_000492.3:c.1312A>G
NP_000483.3:p.Thr438Ala
2617/8184 0.15995 5 non_synonymous Benign
View 7 128480229 128480229 C > A FLNC FLNC ENST00000346177.6:c.1549+15C>A
ENST00000325888.8:c.1549+15C>A
75/6175 0.00607 4 five_prime_intronic Benign
View 7 134135621 134135621 T > C AKR1B1 NM_001628.2:c.268A>G
NP_001619.1:p.Lys90Glu
119/6213 0.00958 5 non_synonymous Benign
View 7 142640113 142640113 A > G KEL NM_000420.2:c.1790T>C
NP_000411.1:p.Leu597Pro
95/6213 0.00789 5 ClinVar pathogenic variant Benign
View 7 153750132 153750132 A > T DPP6 DPP6 ENST00000404039.1:c.51+165313A>T
ENST00000377770.3:c.227A>T
ENSP00000367001.3:p.Asp76Val
72/6213 0.00579 4 non_synonymous Benign
Displaying 500 through 550 of 706 variants