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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 129513850 129513850 T > A LAMA2 ENST00000421865.2:c.1634T>A
ENSP00000400365.2:p.Leu545Gln
72/10521 0.00342 3 non_synonymous Benign
View 6 129824406 129824406 A > G LAMA2 ENST00000421865.2:c.8528A>G
ENSP00000400365.2:p.Asn2843Ser
119/10521 0.00566 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 6 132168996 132168996 G > - ENPP1 NM_006208.2:c.313+9del
398/10521 0.01996 5 five_prime_intronic Benign
View 6 134210600 134210600 G > T TCF21 TCF21 NM_198392.2:c.65G>T
NM_003206.3:c.65G>T
NP_938206.1:p.Gly22Val
NP_003197.2:p.Gly22Val
276/8685 0.01681 5 Benign
View 6 135644371 135644371 T > C AHI1 AHI1 AHI1 NM_001134831.1:c.3257A>G
NM_017651.4:c.3257A>G
NM_001134830.1:c.3257A>G
NP_001128303.1:p.Glu1086Gly
NP_060121.3:p.Glu1086Gly
NP_001128302.1:p.Glu1086Gly
31/10521 0.00147 5 Benign
View 6 143074632 143074632 G > T HIVEP2 NM_006734.3:c.6953C>A
NP_006725.3:p.Thr2318Lys
71/8685 0.00415 5 non_synonymous Benign
View 6 143091063 143091063 C > G HIVEP2 NM_006734.3:c.4813G>C
NP_006725.3:p.Val1605Leu
13/8685 0.00075 5 non_synonymous Benign
View 6 146056499 146056499 C > G EPM2A LOC100507557 EPM2A NM_001018041.1:c.136G>C
NR_038246.1:n.52+443C>G
NM_005670.3:c.136G>C
NP_001018051.1:p.Ala46Pro
NP_005661.1:p.Ala46Pro
17/10521 0.00105 5 non_synonymous Benign
View 6 151726371 151726371 C > T RMND1 RMND1 NM_001271937.1:c.839G>A
NM_017909.3:c.1349G>A
NP_001258866.1:p.Ter280=
NP_060379.2:p.Ter450=
95/8685 0.00553 5 Benign
View 6 151766807 151766807 C > T RMND1 RMND1 NM_001271937.1:c.-7+6344G>A
NM_017909.3:c.140G>A
NP_060379.2:p.Arg47His
49/8685 0.00282 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
45/8685 0.00259 4 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
28/8686 0.00161 5 in_frame_indel Benign
View 6 157099429 157099430 - > CAGCAG ARID1B ARID1B NM_017519.2:c.381_386dupGCAGCA
NM_020732.3:c.381_386dupGCAGCA
NP_059989.2:p.Gln130_Gln131dup
NP_065783.3:p.Gln130_Gln131dup
28/8685 0.00161 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
88/8685 0.00512 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
29/8685 0.00167 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
24/8685 0.00138 5 non_synonymous Benign
View 6 162206892 162206892 T > C PRKN PRKN PRKN NM_013988.2:c.336A>G
NM_013987.2:c.699A>G
NM_004562.2:c.783A>G
NP_054643.2:p.Leu112=
NP_054642.2:p.Leu233=
NP_004553.2:p.Leu261=
246/8685 0.01491 5 Benign
View 6 162475167 162475167 T > G PRKN PRKN PRKN NM_013988.2:c.172-80718A>C
NM_013987.2:c.535-80718A>C
NM_004562.2:c.574A>C
NP_004553.2:p.Met192Leu
100/8685 0.00604 5 Benign
View 7 193245 193245 G > T FAM20C NM_020223.3:c.46G>T
NP_064608.2:p.Val16Leu
56/10521 0.00271 5 non_synonymous Benign
View 7 6026864 6026864 G > A PMS2 PMS2 ENST00000265849.7:c.1532C>T
NR_003085.2:n.1614C>T
ENSP00000265849.7:p.Thr511Met
119/8685 0.00708 5 Benign
View 7 6045634 6045634 T > C PMS2 PMS2 ENST00000265849.7:c.52A>G
NR_003085.2:n.134A>G
ENSP00000265849.7:p.Ile18Val
144/8685 0.00829 5 Benign
View 7 16460916 16460916 G > C ISPD ISPD NM_001101417.3:c.32C>G
NM_001101426.3:c.32C>G
NP_001094887.1:p.Pro11Arg
NP_001094896.1:p.Pro11Arg
38/8685 0.00225 5 non_synonymous Benign
View 7 33397560 33397560 C > T BBS9 BBS9 BBS9 BBS9 NM_014451.3:c.1526C>T
NM_198428.2:c.1646C>T
NM_001033605.1:c.1631C>T
NM_001033604.1:c.1541C>T
NP_055266.2:p.Thr509Ile
NP_940820.1:p.Thr549Ile
NP_001028777.1:p.Thr544Ile
NP_001028776.1:p.Thr514Ile
52/8685 0.00299 4 Benign
View 7 40132656 40132656 G > A CDK13 CDK13 NM_003718.4:c.3508G>A
NM_031267.3:c.3328G>A
NP_003709.3:p.Val1170Met
NP_112557.2:p.Val1110Met
105/8646 0.00619 4 non_synonymous Benign
View 7 42005007 42005007 G > A GLI3 NM_000168.5:c.3664C>T
NP_000159.3:p.Pro1222Ser
57/8685 0.00328 5 non_synonymous Benign
View 7 42007446 42007446 C > T GLI3 NM_000168.5:c.2179G>A
NP_000159.3:p.Gly727Arg
73/8685 0.00426 5 Benign
View 7 42116380 42116380 G > A GLI3 NM_000168.5:c.444C>T
NP_000159.3:p.Tyr148=
15/8685 0.00086 5 Benign
View 7 44186044 44186044 C > T GCK GCK GCK NM_000162.3:c.1019+18G>A
NM_033507.1:c.1022+18G>A
NM_033508.1:c.1016+18G>A
69/8646 0.00411 5 Benign
View 7 44228522 44228522 C > T GCK NM_000162.3:c.31G>A
NP_000153.1:p.Ala11Thr
39/8685 0.0023 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 7 50595920 50595920 G > A DDC DDC DDC DDC DDC ENST00000426377.1:c.395C>T
ENST00000431062.1:c.435+9638C>T
ENST00000380984.4:c.629C>T
ENST00000357936.5:c.629C>T
ENST00000444124.2:c.629C>T
ENSP00000395069.1:p.Pro132Leu
ENSP00000370371.4:p.Pro210Leu
ENSP00000350616.5:p.Pro210Leu
ENSP00000403644.2:p.Pro210Leu
74/10521 0.00361 5 non_synonymous Benign
View 7 69064650 69064650 C > T AUTS2 AUTS2 AUTS2 NM_001127231.1:c.11C>T
NM_001127232.1:c.11C>T
NM_015570.2:c.11C>T
NP_001120703.1:p.Pro4Leu
NP_001120704.1:p.Pro4Leu
NP_056385.1:p.Pro4Leu
69/8685 0.00403 5 non_synonymous Benign
View 7 69364347 69364347 C > G AUTS2 AUTS2 AUTS2 NM_001127231.1:c.385C>G
NM_001127232.1:c.385C>G
NM_015570.2:c.385C>G
NP_001120703.1:p.Leu129Val
NP_001120704.1:p.Leu129Val
NP_056385.1:p.Leu129Val
9/8685 0.00052 5 non_synonymous Benign
View 7 69583234 69583235 AA > - AUTS2 AUTS2 AUTS2 NM_001127231.1:c.624+33_624+34del
NM_001127232.1:c.624+33_624+34del
NM_015570.2:c.624+33_624+34del
130/8646 0.00752 5 five_prime_intronic 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
19/8685 0.00109 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_001278918.1:c.1561G>A
NM_001278917.1:c.1798G>A
NM_001278939.1:c.2014G>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_001081753.2:c.1786G>A
NM_001081752.2:c.1741G>A
NM_001278916.1:c.1684G>A
NM_001278915.1:c.1846G>A
NM_001278914.1:c.1756G>A
NM_001278913.1:c.1585G>A
NP_001265847.1:p.Gly521Ser
NP_001265846.1:p.Gly600Ser
NP_001265868.1:p.Gly672Ser
NP_000492.2:p.Gly610Ser
NP_001075224.1:p.Gly591Ser
NP_001265841.1:p.Gly610Ser
NP_001075223.1:p.Gly615Ser
NP_001075222.1:p.Gly596Ser
NP_001075221.1:p.Gly581Ser
NP_001265845.1:p.Gly562Ser
NP_001265844.1:p.Gly616Ser
NP_001265843.1:p.Gly586Ser
NP_001265842.1:p.Gly529Ser
15/8685 0.00086 5 non_synonymous Benign
View 7 73482987 73482987 G > A ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN NM_001278918.1:c.1811G>A
NM_001278917.1:c.2102G>A
NM_001278939.1:c.2318G>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_001081753.2:c.2036G>A
NM_001081752.2:c.1991G>A
NM_001278916.1:c.1934G>A
NM_001278915.1:c.2150G>A
NM_001278914.1:c.2060G>A
NM_001278913.1:c.1889G>A
NP_001265847.1:p.Gly604Asp
NP_001265846.1:p.Gly701Asp
NP_001265868.1:p.Gly773Asp
NP_000492.2:p.Gly711Asp
NP_001075224.1:p.Gly692Asp
NP_001265841.1:p.Gly693Asp
NP_001075223.1:p.Gly698Asp
NP_001075222.1:p.Gly679Asp
NP_001075221.1:p.Gly664Asp
NP_001265845.1:p.Gly645Asp
NP_001265844.1:p.Gly717Asp
NP_001265843.1:p.Gly687Asp
NP_001265842.1:p.Gly630Asp
63/8685 0.00363 5 Benign
View 7 82784472 82784501 del > - PCLO PCLO NM_014510.2:c.1456_1485del
NM_033026.5:c.1456_1485del
NP_055325.2:p.Pro486_Gly-3945del
NP_149015.2:p.Pro486_Gly-4152del
73/8685 0.00426 5 in_frame_indel Benign
View 7 87082273 87082273 T > C ABCB4 ABCB4 ABCB4 NM_018850.2:c.523A>G
NM_000443.3:c.523A>G
NM_018849.2:c.523A>G
NP_061338.1:p.Thr175Ala
NP_000434.1:p.Thr175Ala
NP_061337.1:p.Thr175Ala
158/10962 0.00721 5 Benign
View 7 94227275 94227275 C > T SGCE SGCE SGCE NM_001099401.1:c.1295G>A
NM_001099400.1:c.1226+812G>A
NM_003919.2:c.1253+812G>A
NP_001092871.1:p.Ser432Asn
72/8685 0.00443 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
77/10521 0.00371 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
131/10521 0.00627 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
126/10521 0.00613 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
95/10521 0.00451 5 non_synonymous Benign
View 7 107329489 107329489 A > C SLC26A4 NM_000441.1:c.1002-9A>C
43/8686 0.00248 5 Benign
View 7 107335087 107335087 A > T SLC26A4 NM_000441.1:c.1363A>T
NP_000432.1:p.Ile455Phe
8/8685 0.00052 5 Benign
View 7 107350627 107350627 G > A SLC26A4 NM_000441.1:c.2218G>A
NP_000432.1:p.Gly740Ser
74/8686 0.00432 5 Benign
View 7 107434217 107434217 T > C SLC26A3 NM_000111.2:c.241A>G
NP_000102.1:p.Ile81Val
90/8685 0.00524 5 Benign
View 7 116411990 116411990 C > T MET MET NM_001127500.1:c.3029C>T
NM_000245.2:c.2975C>T
NP_001120972.1:p.Thr1010Ile
NP_000236.2:p.Thr992Ile
156/8685 0.00915 5 Benign
View 7 117188736 117188736 C > A CFTR NM_000492.3:c.1251C>A
NP_000483.3:p.Asn417Lys
5322/10741 0.24784 5 non_synonymous Benign
View 7 117188750 117188750 C > T CFTR NM_000492.3:c.1265C>T
NP_000483.3:p.Ser422Phe
2610/10734 0.12167 5 non_synonymous Benign
Displaying 700 through 750 of 978 variants