ClinVar Miner

List of variants reported as likely pathogenic for craniosynostosis

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 269
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HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys) rs201638429 0.00005
NM_004260.4(RECQL4):c.2650del (p.Gln884fs) rs1203766600 0.00005
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_001142784.3(IL11RA):c.810G>A (p.Thr270=) rs1258408605 0.00003
NM_004260.4(RECQL4):c.1259-1G>A rs372380880 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His) rs183758503 0.00003
NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe) rs369630361 0.00002
NM_004260.4(RECQL4):c.3393+2T>G rs557284122 0.00002
NM_004260.4(RECQL4):c.3394-1G>C rs752301125 0.00002
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln) rs200140363 0.00002
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg) rs387906785 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_004260.4(RECQL4):c.1132-1G>A rs751503394 0.00001
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.1704+2T>C rs772896860 0.00001
NM_004260.4(RECQL4):c.1913T>C (p.Leu638Pro) rs977450143 0.00001
NM_004260.4(RECQL4):c.2463+1G>A rs1295396384 0.00001
NM_004260.4(RECQL4):c.2755+1G>A rs373130543 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.3236+1G>A rs1327061374 0.00001
NM_006494.4(ERF):c.247C>T (p.Arg83Trp) rs766762597 0.00001
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) rs1049674573 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro) rs372355939 0.00001
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter) rs1185183557 0.00001
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3
GRCh37/hg19 2p25.2-25.1(chr2:5689487-7379378)x3
GRCh37/hg19 2q22.1(chr2:138458639-141918297)x1
GRCh37/hg19 7p21.1(chr7:17930686-19059254)x1
NC_000008.10:g.(?_145738591)_(145742902_?)dup
NC_000008.10:g.(?_145739619)_(145739814_?)del
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1570A>G (p.Thr524Ala) rs1057520044
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) rs121918507
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His) rs1057519045
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1913A>C (p.Asn638Thr) rs777169135
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000141.5(FGFR2):c.811_812inv (p.Gly271Pro)
NM_000141.5(FGFR2):c.824_829dup (p.Phe276_Val277insGluPhe) rs1850299732
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu) rs1057519037
NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys) rs1057519038
NM_000141.5:c.940-19_940-18insAlu
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) rs1721198491
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000474.4(TWIST1):c.171del (p.Gly59fs) rs1788590614
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.4(TWIST1):c.352C>A (p.Arg118Ser) rs1554442015
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly) rs1554442015
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly) rs1233220987
NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg) rs2115396737
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) rs748476974
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer) rs1585616948
NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser) rs2115396651
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu) rs1788580776
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu) rs1554441987
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile) rs1788580077
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu) rs2115396574
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu) rs2115396572
NM_000474.4(TWIST1):c.475C>G (p.Leu159Val) rs1563159945
NM_000474.4(TWIST1):c.476T>A (p.Leu159His) rs1585616825
NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg) rs1555103652
NM_001006657.2(WDR35):c.1195-2A>T
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
NM_001271938.2(MEGF8):c.1784_1788+3del
NM_001271938.2(MEGF8):c.3351-2A>C rs2039397653
NM_001271938.2(MEGF8):c.3761+2T>C
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
NM_001271938.2(MEGF8):c.7005+1G>T rs1224632697
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys) rs2039109372
NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del) rs775004286
NM_001374353.1(GLI2):c.1600G>A (p.Ala534Thr) rs1340215600
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) rs769407804
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg) rs2116630442
NM_001448.3(GPC4):c.455del (p.Val152fs) rs2124120705
NM_001903.5(CTNNA1):c.2572_2586dup (p.Ser858_Lys862dup) rs2150359366
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.103C>G (p.Pro35Ala)
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.106G>C (p.Ala36Pro) rs2100789569
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.350G>A (p.Gly117Asp) rs2100790073
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003036.4(SKI):c.68A>C (p.Gln23Pro) rs1557806222
NM_003108.4(SOX11):c.191G>A (p.Arg64His) rs2103276364
NM_003221.4(TFAP2B):c.1144C>T (p.Arg382Ter) rs2113960501
NM_003221.4(TFAP2B):c.3G>A (p.Met1Ile) rs2113920409
NM_003221.4(TFAP2B):c.601+2T>A rs2113937986
NM_003221.4(TFAP2B):c.827A>G (p.Lys276Arg) rs2113952620
NM_003412.4(ZIC1):c.1153G>T (p.Glu385Ter) rs2087399510
NM_003995.4(NPR2):c.2162_2172del (p.Ser721fs) rs1057518817
NM_003995.4(NPR2):c.779A>T (p.Glu260Val) rs757744435
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_004260.4(RECQL4):c.1131+1G>A rs1050860620
NM_004260.4(RECQL4):c.1131+2_1131+5del
NM_004260.4(RECQL4):c.1132-2A>G
NM_004260.4(RECQL4):c.118+2T>C rs1586834813
NM_004260.4(RECQL4):c.119-2A>C rs1815370807
NM_004260.4(RECQL4):c.119-2A>G
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter) rs2130712164
NM_004260.4(RECQL4):c.1258+1G>A rs2130711906
NM_004260.4(RECQL4):c.1390+1G>A
NM_004260.4(RECQL4):c.1390+1G>T rs1085307090
NM_004260.4(RECQL4):c.1483+1G>A rs1827970204
NM_004260.4(RECQL4):c.1614_1620+14del
NM_004260.4(RECQL4):c.1620+1G>A rs2130702516
NM_004260.4(RECQL4):c.1621-2A>G
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.1704+2T>G
NM_004260.4(RECQL4):c.1705-1G>A rs569948031
NM_004260.4(RECQL4):c.1705-1G>C rs569948031
NM_004260.4(RECQL4):c.1705-1del
NM_004260.4(RECQL4):c.1879-1G>A
NM_004260.4(RECQL4):c.2058+2T>G rs2130689994
NM_004260.4(RECQL4):c.214-2A>G
NM_004260.4(RECQL4):c.2200+1G>A
NM_004260.4(RECQL4):c.2200+1G>T
NM_004260.4(RECQL4):c.2200+2T>C rs768749064
NM_004260.4(RECQL4):c.2201-1G>A
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) rs766312203
NM_004260.4(RECQL4):c.2463+2T>C rs2130676059
NM_004260.4(RECQL4):c.2756-1G>A rs1564791894
NM_004260.4(RECQL4):c.2866_2885+19del rs1554897134
NM_004260.4(RECQL4):c.2878_2885+14del
NM_004260.4(RECQL4):c.2885+1G>T rs1176959485
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
NM_004260.4(RECQL4):c.3055+1G>A rs368585080
NM_004260.4(RECQL4):c.3055+1del rs1586794620
NM_004260.4(RECQL4):c.3055+2T>C rs2130661643
NM_004260.4(RECQL4):c.3056-1G>A
NM_004260.4(RECQL4):c.3056-1G>T
NM_004260.4(RECQL4):c.3056-2A>G
NM_004260.4(RECQL4):c.3056-4_3069del
NM_004260.4(RECQL4):c.3236+1G>C
NM_004260.4(RECQL4):c.3236G>T (p.Ser1079Ile) rs2130657545
NM_004260.4(RECQL4):c.3237-1G>A rs1586791945
NM_004260.4(RECQL4):c.3237-2A>G
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter) rs868635592
NM_004260.4(RECQL4):c.3393+1G>A rs1586790519
NM_004260.4(RECQL4):c.3393+61_3461delinsAG
NM_004260.4(RECQL4):c.3394-1G>A rs752301125
NM_004260.4(RECQL4):c.355-1G>A
NM_004260.4(RECQL4):c.355-1G>T rs1815108719
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) rs1586824938
NM_004260.4(RECQL4):c.84+1G>A rs1815425378
NM_004260.4(RECQL4):c.84+2T>G
NM_004260.4(RECQL4):c.85-2A>G rs1227874093
NM_006494.4(ERF):c.1049del (p.Leu350fs) rs2036390617
NM_006494.4(ERF):c.110T>C (p.Leu37Pro) rs2036426238
NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs) rs2146948133
NM_006494.4(ERF):c.286A>T (p.Lys96Ter) rs1599823350
NM_006494.4(ERF):c.41G>A (p.Trp14Ter) rs2036427390
NM_006494.4(ERF):c.517_521dup (p.Ala175fs) rs2146950390
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter) rs1216061173
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter) rs1211232252
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter) rs1554680902
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs) rs1554680188
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006766.5(KAT6A):c.3721del (p.Glu1241fs)
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs) rs2150856658
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs) rs1821721248
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn) rs1821677301
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe) rs1821677152
NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer) rs1554679726
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) rs2150855722
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs) rs2150855326
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter) rs1057518791
NM_014255.7(CNPY2):c.46_50del (p.Gly16fs) rs1873865063
NM_016277.5(RAB23):c.156-1G>C rs373724159
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG rs2127998544
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.482-1_486del rs2127997697
NM_016277.5(RAB23):c.559del (p.Ser187fs) rs2127997645
NM_019885.4(CYP26B1):c.86C>A (p.Ser29Ter)
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1525-2A>T
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536
NM_020779.4(WDR35):c.570+2T>G
NM_021224.6(ZNF462):c.6631del (p.Arg2211fs) rs1826656424
NM_023110.3(FGFR1):c.1081+1G>A
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro)
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) rs1817052708
NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del)
NM_023110.3(FGFR1):c.1855-2A>G
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)
NM_023110.3(FGFR1):c.2049-1G>A
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) rs1260404537
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.449-6G>A
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)
NM_023110.3(FGFR1):c.622-2A>G rs2150866757
NM_023110.3(FGFR1):c.745+1G>T
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro) rs2108328020
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg) rs2074912574
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.349+1G>A rs1559869525
NM_052989.3(IFT122):c.416+2T>G rs2108101855
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp) rs2077955754
NM_207037.2(TCF12):c.1036-6G>A
NM_207037.2(TCF12):c.1606del (p.Thr536fs) rs1597730335
NM_207037.2(TCF12):c.1746-8T>G
NM_207037.2(TCF12):c.1769del (p.Asp589_Leu590insTer) rs1597816045
NM_207037.2(TCF12):c.1807C>T (p.Arg603Trp) rs1191340189
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) rs1349009265
NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys) rs1414251456
NM_207037.2(TCF12):c.1838G>A (p.Arg613His)
NM_207037.2(TCF12):c.268C>T (p.Arg90Ter) rs747222651
NM_207037.2(TCF12):c.325+2T>C
NM_207037.2(TCF12):c.655del (p.Ser219fs)
NM_207037.2(TCF12):c.778_779del (p.Met260fs) rs2059175292
NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)

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