List of variants reported as likely pathogenic for Zellweger spectrum disorders by Invitae

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 144

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HGVS	dbSNP	gnomAD frequency
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)	rs373118250	0.00005
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	rs61750425	0.00004
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)	rs724160001	0.00003
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)	rs61753231	0.00002
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)	rs374549180	0.00002
NM_000466.3(PEX1):c.130-1G>T	rs1028247729	0.00002
NM_002617.4(PEX10):c.113-1G>A	rs867305222	0.00002
NM_000287.4(PEX6):c.1233+1G>A	rs763459576	0.00001
NM_000287.4(PEX6):c.1234-1G>T	rs1554127533	0.00001
NM_000287.4(PEX6):c.2362+1G>A	rs1443107232	0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)	rs61753229	0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)	rs61750407	0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	rs121434455	0.00001
NM_000466.3(PEX1):c.2071+1G>T	rs267608177	0.00001
NM_000466.3(PEX1):c.2583+1G>T	rs771586413	0.00001
NM_000466.3(PEX1):c.2719-1G>A	rs1791673946	0.00001
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro)	rs1484321655	0.00001
NM_000466.3(PEX1):c.3208-1G>A	rs1057517518	0.00001
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)	rs1414973726	0.00001
NM_002857.4(PEX19):c.346+1G>A	rs75072667	0.00001
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp)	rs1064794320	0.00001
NC_000001.10:g.(?_2337205)_(2338414_?)del
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000006.11:g.(?_137191125)_(137199715_?)del
NC_000006.11:g.(?_42931601)_(42937735_?)del
NM_000287.4(PEX6):c.1046+1G>T
NM_000287.4(PEX6):c.1130+1G>A	rs267608213
NM_000287.4(PEX6):c.1234-2A>G	rs2114247797
NM_000287.4(PEX6):c.1367+1G>A	rs1769988075
NM_000287.4(PEX6):c.1367+2T>C
NM_000287.4(PEX6):c.1368-2del	rs1554127415
NM_000287.4(PEX6):c.1479+1G>A
NM_000287.4(PEX6):c.1479+2del	rs1554127383
NM_000287.4(PEX6):c.1689-1G>A	rs267608223
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)	rs61753224
NM_000287.4(PEX6):c.1884+1G>A
NM_000287.4(PEX6):c.1885-1G>A
NM_000287.4(PEX6):c.2094+1G>A	rs1581760572
NM_000287.4(PEX6):c.2095-2A>G
NM_000287.4(PEX6):c.2363-2A>C	rs1769772582
NM_000287.4(PEX6):c.2363-2A>G
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln)	rs2114238521
NM_000287.4(PEX6):c.2471+1G>A
NM_000287.4(PEX6):c.2472-1G>A
NM_000287.4(PEX6):c.2472-2A>G	rs267608242
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
NM_000287.4(PEX6):c.2589-1G>A
NM_000287.4(PEX6):c.2589-1G>T	rs2114237186
NM_000287.4(PEX6):c.2666+1G>T	rs2114236937
NM_000287.4(PEX6):c.2667-2A>G	rs267608249
NM_000287.4(PEX6):c.883-2A>G
NM_000287.4(PEX6):c.883-6_887del
NM_000288.4(PEX7):c.131-1G>A	rs2115129048
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr)	rs61753240
NM_000288.4(PEX7):c.340-1G>T	rs780751870
NM_000288.4(PEX7):c.363_526+230del	rs1582744649
NM_000288.4(PEX7):c.418-1G>C	rs773406384
NM_000288.4(PEX7):c.633+1G>A	rs1057516989
NM_000288.4(PEX7):c.736_747+17del	rs1057517257
NM_000288.4(PEX7):c.747+1G>A
NM_000288.4(PEX7):c.747+2T>A
NM_000288.4(PEX7):c.748-2A>G	rs778862698
NM_000466.3(PEX1):c.130-2A>T	rs1585260993
NM_000466.3(PEX1):c.1359+1G>C
NM_000466.3(PEX1):c.1587+1G>A	rs1057517469
NM_000466.3(PEX1):c.1587+1G>T
NM_000466.3(PEX1):c.1670+1G>A	rs1057517490
NM_000466.3(PEX1):c.1670+1G>T	rs1057517490
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	rs370483961
NM_000466.3(PEX1):c.1793_1803+1del	rs2116180739
NM_000466.3(PEX1):c.1900+1G>A	rs770447891
NM_000466.3(PEX1):c.1900+2T>C	rs1562857198
NM_000466.3(PEX1):c.1901-1G>T
NM_000466.3(PEX1):c.1901-2A>G
NM_000466.3(PEX1):c.2071+2T>C	rs1478905473
NM_000466.3(PEX1):c.2072-1G>A
NM_000466.3(PEX1):c.2072-42_2085del	rs1792018845
NM_000466.3(PEX1):c.2227-1G>C
NM_000466.3(PEX1):c.2417-1G>T
NM_000466.3(PEX1):c.2718+1G>A
NM_000466.3(PEX1):c.2719-2A>G	rs1554369234
NM_000466.3(PEX1):c.273+1G>A	rs1554376597
NM_000466.3(PEX1):c.273+2T>G
NM_000466.3(PEX1):c.2783+2T>C	rs1585224312
NM_000466.3(PEX1):c.2784-1G>C
NM_000466.3(PEX1):c.2927-2A>G	rs1057517531
NM_000466.3(PEX1):c.3031-1G>A
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	rs1484321655
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	rs954814470
NM_000466.3(PEX1):c.3207+1G>C	rs267608181
NM_000466.3(PEX1):c.3438+1G>A	rs1554367284
NM_000466.3(PEX1):c.3439-2A>G
NM_000466.3(PEX1):c.357+1G>C	rs866144313
NM_000466.3(PEX1):c.357+202_1170del
NM_000466.3(PEX1):c.358-1G>T	rs1057517479
NM_000466.3(PEX1):c.358-2A>C	rs1057517500
NM_000466.3(PEX1):c.3637-1G>A
NM_000466.3(PEX1):c.3637-3_3637-1del	rs2116039871
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu)	rs1473858573
NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)
NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)
NM_001127649.3(PEX26):c.372-2A>G
NM_001127649.3(PEX26):c.668-2A>G	rs2123657331
NM_001127649.3(PEX26):c.789_798del (p.Cys263fs)	rs1926794975
NM_001351132.2(PEX5):c.135_147+32del
NM_001351132.2(PEX5):c.135_147+33delinsC	rs2135880243
NM_001351132.2(PEX5):c.147+2T>G
NM_001351132.2(PEX5):c.1561-2A>G	rs2136254229
NM_001351132.2(PEX5):c.317-2A>G	rs2135903939
NM_001351132.2(PEX5):c.552-1G>A	rs1064793563
NM_001351132.2(PEX5):c.753+1G>A
NM_001351132.2(PEX5):c.753+2T>C
NM_001351132.2(PEX5):c.754-2A>C
NM_001351132.2(PEX5):c.847-2A>G
NM_001351132.2(PEX5):c.847-7_861del
NM_001351132.2(PEX5):c.966+1G>C	rs2136176386
NM_001351132.2(PEX5):c.967-1G>A
NM_001351132.2(PEX5):c.967-1_971del
NM_002617.4(PEX10):c.113-1G>C
NM_002617.4(PEX10):c.601-61G>A
NM_002617.4(PEX10):c.773_776+17del
NM_002617.4(PEX10):c.776+1G>A
NM_002617.4(PEX10):c.776+1G>C	rs869312935
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)	rs724160000
NM_002617.4(PEX10):c.916del (p.Glu306fs)	rs2100419143
NM_002618.4(PEX13):c.787+1G>A	rs2104803776
NM_002618.4(PEX13):c.92+1G>A
NM_002618.4(PEX13):c.93-1G>A
NM_002857.4(PEX19):c.181-2A>G	rs2101804905
NM_002857.4(PEX19):c.346+2T>C	rs1657837348
NM_002857.4(PEX19):c.594+1G>C
NM_002857.4(PEX19):c.70+2T>G
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT
NM_004565.3(PEX14):c.298+1G>C
NM_004565.3(PEX14):c.299-5_306del
NM_004565.3(PEX14):c.36+1G>T	rs1641167602
NM_004813.4(PEX16):c.112+2T>G	rs1590798080
NM_004813.4(PEX16):c.149-2A>G
NM_004813.4(PEX16):c.226-2A>C
NM_004813.4(PEX16):c.359+1G>A
NM_004813.4(PEX16):c.694+1G>A	rs2134692847
NM_004813.4(PEX16):c.887+2T>G	rs2134691627
NM_004813.4(PEX16):c.888-1G>C
NM_004813.4(PEX16):c.888-2A>C	rs2086772786

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