ClinVar Miner

List of variants reported as likely pathogenic for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 315
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val) rs753757778 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_006767.4(LZTR1):c.2326-2A>G rs1475060729 0.00002
NM_001042492.3(NF1):c.1261-1G>A rs2066618707 0.00001
NM_001042492.3(NF1):c.1721+1G>A rs1131691096 0.00001
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe) rs1555615039 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.2002G>T (p.Asp668Tyr) rs776005012 0.00001
NM_006767.4(LZTR1):c.2406+1G>A rs770322736 0.00001
NM_006767.4(LZTR1):c.320G>C (p.Arg107Thr) rs1301901369 0.00001
NM_006767.4(LZTR1):c.401-2_401-1del rs769200796 0.00001
NM_006767.4(LZTR1):c.510-2A>G rs1458682620 0.00001
NM_006767.4(LZTR1):c.651+1G>T rs1450044732 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_000267.3(NF1):c.2252delG rs1597713259
NM_000267.3:c.2964_2965insALU
NM_001042492.3(NF1):c.1048_1062+8del
NM_001042492.3(NF1):c.1062+2T>C rs2066510391
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1063-1G>A rs1555610955
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_001042492.3(NF1):c.1186-1G>A rs876660782
NM_001042492.3(NF1):c.1186-2A>C
NM_001042492.3(NF1):c.1260+1G>C rs267606603
NM_001042492.3(NF1):c.1260+1G>T rs267606603
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.1261-3_1261-2delinsAGC
NM_001042492.3(NF1):c.1261-5_1262del
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_001042492.3(NF1):c.1393-1555C>G
NM_001042492.3(NF1):c.1393-1G>T rs1131691131
NM_001042492.3(NF1):c.139T>C (p.Ser47Pro) rs2143626487
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1527+4dup
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1527+5G>C rs1060500352
NM_001042492.3(NF1):c.1527+675C>T
NM_001042492.3(NF1):c.1528-1G>T rs876660595
NM_001042492.3(NF1):c.1528-2A>G rs1368005133
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1721+542A>G rs2066942173
NM_001042492.3(NF1):c.1722-11T>A rs2066961306
NM_001042492.3(NF1):c.1722-14_1722-5del rs2144015153
NM_001042492.3(NF1):c.1722-1G>A rs1567845818
NM_001042492.3(NF1):c.1722-2A>G rs763983337
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg) rs1597626094
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del) rs2143627187
NM_001042492.3(NF1):c.1818C>T (p.Cys606=) rs1567845937
NM_001042492.3(NF1):c.1845+2T>G
NM_001042492.3(NF1):c.2002-2A>C rs1555613741
NM_001042492.3(NF1):c.205-1G>A rs1555605362
NM_001042492.3(NF1):c.205-31_205-28del
NM_001042492.3(NF1):c.205-3_205-2del
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2251+3A>C
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.2252G>T (p.Gly751Val)
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2326-5T>A rs1131691086
NM_001042492.3(NF1):c.2326-5T>G
NM_001042492.3(NF1):c.2338A>C (p.Thr780Pro) rs1205746953
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2352G>T (p.Trp784Cys)
NM_001042492.3(NF1):c.2410-1G>C rs1057518792
NM_001042492.3(NF1):c.244T>C (p.Ser82Pro) rs1597629813
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro) rs1060500360
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro) rs2067066952
NM_001042492.3(NF1):c.2617C>G (p.Arg873Gly) rs199474739
NM_001042492.3(NF1):c.269T>C (p.Leu90Pro) rs1555605393
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_001042492.3(NF1):c.2850+2T>G rs1597715880
NM_001042492.3(NF1):c.2850_2850+2dup rs1597715874
NM_001042492.3(NF1):c.2851-1G>A rs1597716274
NM_001042492.3(NF1):c.2851-2A>C
NM_001042492.3(NF1):c.288+545A>G
NM_001042492.3(NF1):c.288+5G>A rs1555605409
NM_001042492.3(NF1):c.288+5G>T rs1555605409
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro) rs1597716466
NM_001042492.3(NF1):c.2990+5G>C
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3114-1G>T
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3114-8T>G rs1597717471
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys) rs1555614652
NM_001042492.3(NF1):c.3198-314G>A rs2067116490
NM_001042492.3(NF1):c.3212C>T (p.Ala1071Val) rs2151433685
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg) rs1555614849
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
NM_001042492.3(NF1):c.3315-1G>A rs1567850984
NM_001042492.3(NF1):c.3315-2A>G rs1555614914
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_001042492.3(NF1):c.3464C>A (p.Ala1155Asp)
NM_001042492.3(NF1):c.3496+1G>A rs2067138719
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe) rs1555615027
NM_001042492.3(NF1):c.3560T>G (p.Leu1187Arg) rs2151435424
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser) rs1597719982
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp) rs1060500374
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_001042492.3(NF1):c.3748C>A (p.Arg1250=)
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_001042492.3(NF1):c.3974+260T>G rs1567853044
NM_001042492.3(NF1):c.3974G>A (p.Arg1325Lys) rs863224447
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.4016T>C (p.Leu1339Pro) rs1567858306
NM_001042492.3(NF1):c.4110+1G>T rs1555617383
NM_001042492.3(NF1):c.4174-9T>A
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val) rs199474789
NM_001042492.3(NF1):c.4232T>G (p.Leu1411Arg)
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4332+1dup
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4333-1G>T rs1418965797
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4351A>G (p.Asn1451Asp) rs1567862283
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg) rs1555618656
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4416_4430+8del
NM_001042492.3(NF1):c.4430+1G>T rs773151680
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg) rs1135402864
NM_001042492.3(NF1):c.4557_4558delinsTA (p.Gln1520Lys)
NM_001042492.3(NF1):c.4577+1del
NM_001042492.3(NF1):c.4724+2T>G rs1597748995
NM_001042492.3(NF1):c.4725-2A>G rs1295045178
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val) rs1567865010
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.479G>A (p.Arg160Lys) rs199474752
NM_001042492.3(NF1):c.480-2A>C
NM_001042492.3(NF1):c.4835G>C (p.Arg1612Thr) rs1555619423
NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr) rs1131691123
NM_001042492.3(NF1):c.5268+5_5268+6del
NM_001042492.3(NF1):c.5269-1G>C rs876660141
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5609+5G>A rs1597832498
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
NM_001042492.3(NF1):c.5610-2A>C
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys) rs786203824
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg) rs786203824
NM_001042492.3(NF1):c.586+5G>C rs1060500284
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys) rs876659079
NM_001042492.3(NF1):c.587-14T>A rs940581106
NM_001042492.3(NF1):c.587-1G>C
NM_001042492.3(NF1):c.60+2T>C rs2143145948
NM_001042492.3(NF1):c.6003_6006+1dup
NM_001042492.3(NF1):c.6007-2_6007del rs1597842196
NM_001042492.3(NF1):c.6053G>A (p.Ser2018Asn) rs2069669492
NM_001042492.3(NF1):c.6054T>G (p.Ser2018Arg) rs1555534600
NM_001042492.3(NF1):c.61-1G>T rs1263745475
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6148-18A>G
NM_001042492.3(NF1):c.6148-1G>T
NM_001042492.3(NF1):c.6148-2A>C
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr) rs1060500382
NM_001042492.3(NF1):c.6343C>A (p.Pro2115Thr)
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile) rs1555534770
NM_001042492.3(NF1):c.6427+1G>T
NM_001042492.3(NF1):c.6428-1del
NM_001042492.3(NF1):c.6428-2A>G rs1060500312
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.654+1G>T rs1060500245
NM_001042492.3(NF1):c.655-1G>C
NM_001042492.3(NF1):c.655-2A>G rs1555608734
NM_001042492.3(NF1):c.655-7_655-2del
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642+31T>G
NM_001042492.3(NF1):c.667T>A (p.Trp223Arg)
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg) rs1060500342
NM_001042492.3(NF1):c.6704+1G>C rs1060500376
NM_001042492.3(NF1):c.6705-1G>C rs1060500356
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6806_6819+5del
NM_001042492.3(NF1):c.6819+1G>C rs1555534964
NM_001042492.3(NF1):c.6819+1del
NM_001042492.3(NF1):c.6820-1G>C rs1060500266
NM_001042492.3(NF1):c.6845C>T (p.Pro2282Leu) rs2069743547
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
NM_001042492.3(NF1):c.68dup (p.Thr25fs) rs2143625205
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro) rs1131691267
NM_001042492.3(NF1):c.7062+1_7062+5del rs1567619134
NM_001042492.3(NF1):c.7169T>G (p.Leu2390Trp) rs1597851443
NM_001042492.3(NF1):c.7190-1G>A rs2070073417
NM_001042492.3(NF1):c.7199A>G (p.His2400Arg) rs1597858362
NM_001042492.3(NF1):c.731-1G>T rs1555608928
NM_001042492.3(NF1):c.7321+2dup
NM_001042492.3(NF1):c.7366_7457+21del
NM_001042492.3(NF1):c.7458-1G>T
NM_001042492.3(NF1):c.7869+1G>T
NM_001042492.3(NF1):c.7869+5G>C rs1555536725
NM_001042492.3(NF1):c.7968_7970+2delinsACAC rs1597867032
NM_001042492.3(NF1):c.7970+1dup
NM_001042492.3(NF1):c.7970+2T>C
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.7970+5G>C rs1567627286
NM_001042492.3(NF1):c.7971-1G>A rs1417908560
NM_001042492.3(NF1):c.7971-2A>C
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
NM_001042492.3(NF1):c.8113+1G>T
NM_001042492.3(NF1):c.8113+2T>G rs1597868312
NM_001042492.3(NF1):c.8114-1G>C rs1597868727
NM_001042492.3(NF1):c.819_821del (p.Leu274del) rs2143786045
NM_001042492.3(NF1):c.889-1G>C rs587781517
NM_001042492.3(NF1):c.889-1del
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_001042492.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001042492.3(NF1):c.99A>G (p.Lys33=) rs786203280
NM_006767.4(LZTR1):c.1150-1G>T
NM_006767.4(LZTR1):c.1247T>G (p.Met416Arg)
NM_006767.4(LZTR1):c.1260+1G>T
NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)
NM_006767.4(LZTR1):c.1353+1G>T
NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu) rs587777180
NM_006767.4(LZTR1):c.1449+1G>C
NM_006767.4(LZTR1):c.1449+1G>T
NM_006767.4(LZTR1):c.1449+2T>C
NM_006767.4(LZTR1):c.1449+2T>G
NM_006767.4(LZTR1):c.1449G>A (p.Gln483=)
NM_006767.4(LZTR1):c.1449G>C (p.Gln483His)
NM_006767.4(LZTR1):c.1615+1G>A
NM_006767.4(LZTR1):c.1616-1G>A
NM_006767.4(LZTR1):c.1616-1G>C
NM_006767.4(LZTR1):c.1616-2A>C
NM_006767.4(LZTR1):c.1616-2A>G rs1328046881
NM_006767.4(LZTR1):c.1616-2_1616-1delinsCC
NM_006767.4(LZTR1):c.1785+2T>A
NM_006767.4(LZTR1):c.1785+2T>C
NM_006767.4(LZTR1):c.1785+2T>G
NM_006767.4(LZTR1):c.1786-1_1786dup
NM_006767.4(LZTR1):c.1942+1G>C
NM_006767.4(LZTR1):c.1942+1G>T
NM_006767.4(LZTR1):c.1942+2T>C
NM_006767.4(LZTR1):c.1943-1G>T
NM_006767.4(LZTR1):c.1943-320G>C
NM_006767.4(LZTR1):c.200+1G>C
NM_006767.4(LZTR1):c.200+1G>T
NM_006767.4(LZTR1):c.200+1dup
NM_006767.4(LZTR1):c.200+2T>A
NM_006767.4(LZTR1):c.200+2T>C
NM_006767.4(LZTR1):c.200G>C (p.Arg67Pro)
NM_006767.4(LZTR1):c.2069+2T>G
NM_006767.4(LZTR1):c.2070-1G>A
NM_006767.4(LZTR1):c.2070-2A>G rs774954465
NM_006767.4(LZTR1):c.2220-2A>C
NM_006767.4(LZTR1):c.2325+1G>C
NM_006767.4(LZTR1):c.2325+2T>C
NM_006767.4(LZTR1):c.2326-1G>A
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) rs587777179
NM_006767.4(LZTR1):c.2353_2360delinsTG (p.Ala785_Asp787delinsCys)
NM_006767.4(LZTR1):c.2406+1G>C
NM_006767.4(LZTR1):c.2406+2T>C
NM_006767.4(LZTR1):c.263+1del rs1924258572
NM_006767.4(LZTR1):c.263+5G>A rs771241129
NM_006767.4(LZTR1):c.263G>A (p.Gly88Glu)
NM_006767.4(LZTR1):c.263G>T (p.Gly88Val) rs1051725799
NM_006767.4(LZTR1):c.264-2A>C
NM_006767.4(LZTR1):c.320+1G>A rs943939913
NM_006767.4(LZTR1):c.320+1G>C rs943939913
NM_006767.4(LZTR1):c.320+2T>G
NM_006767.4(LZTR1):c.320+5del rs1924365049
NM_006767.4(LZTR1):c.321-1G>A
NM_006767.4(LZTR1):c.321-1G>C
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
NM_006767.4(LZTR1):c.365C>G (p.Ser122Trp)
NM_006767.4(LZTR1):c.400+1G>A
NM_006767.4(LZTR1):c.400+1G>C rs1555927561
NM_006767.4(LZTR1):c.400+5G>A
NM_006767.4(LZTR1):c.400+5G>T
NM_006767.4(LZTR1):c.401-1G>C rs747225246
NM_006767.4(LZTR1):c.401-2A>C
NM_006767.4(LZTR1):c.401-2del
NM_006767.4(LZTR1):c.509+3G>C
NM_006767.4(LZTR1):c.509G>T (p.Arg170Leu) rs781431741
NM_006767.4(LZTR1):c.50_51del (p.Ala17fs)
NM_006767.4(LZTR1):c.510-6C>G
NM_006767.4(LZTR1):c.565A>T (p.Ile189Phe)
NM_006767.4(LZTR1):c.574G>A (p.Gly192Ser)
NM_006767.4(LZTR1):c.577T>C (p.Tyr193His) rs2147962725
NM_006767.4(LZTR1):c.594-3C>G
NM_006767.4(LZTR1):c.650A>T (p.Glu217Val)
NM_006767.4(LZTR1):c.651+1G>A
NM_006767.4(LZTR1):c.651+2T>A
NM_006767.4(LZTR1):c.651+3G>C
NM_006767.4(LZTR1):c.651+4del
NM_006767.4(LZTR1):c.651+5G>C
NM_006767.4(LZTR1):c.651G>A (p.Glu217=)
NM_006767.4(LZTR1):c.652-1G>A
NM_006767.4(LZTR1):c.652-2A>C
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006767.4(LZTR1):c.791+1G>T
NM_006767.4(LZTR1):c.792-1G>A
NM_006767.4(LZTR1):c.792-2A>G
NM_006767.4(LZTR1):c.993+2T>G
NM_006767.4(LZTR1):c.994-1G>A
NM_006767.4(LZTR1):c.994-1G>T rs758238174
NM_006767.4(LZTR1):c.994-2A>G

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