ClinVar Miner

List of variants in gene ENG reported as likely benign for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP
NM_000118.3(ENG):c.*10G>T rs1588572388
NM_000118.3(ENG):c.*368C>T rs539680928
NM_000118.3(ENG):c.*726C>T rs190129922
NM_000118.3(ENG):c.*758A>G rs72616667
NM_000118.3(ENG):c.-158C>T rs41470844
NM_000118.3(ENG):c.-186G>A rs569618819
NM_000118.3(ENG):c.-289A>T rs538284289
NM_000118.3(ENG):c.-343C>T rs543301425
NM_000118.3(ENG):c.-98G>A rs923040659
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1008C>T (p.Thr336=) rs766675335
NM_000118.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786
NM_000118.3(ENG):c.1020G>A (p.Pro340=) rs773748110
NM_000118.3(ENG):c.1056G>A (p.Pro352=) rs769530262
NM_000118.3(ENG):c.1095C>T (p.Asp365=) rs142803546
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.111C>T (p.Pro37=) rs755626994
NM_000118.3(ENG):c.1134+9A>T rs200780733
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.150G>A (p.Ser50=) rs377129516
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1770C>T (p.Pro590=) rs370943570
NM_000118.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.1845G>T (p.Ser615=) rs759950184
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.232C>T (p.Leu78=) rs1060504229
NM_000118.3(ENG):c.291G>C (p.Leu97=) rs376641299
NM_000118.3(ENG):c.306C>T (p.Asn102=) rs148098047
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.348G>A (p.Leu116=) rs1205469132
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.393G>A (p.Pro131=) rs760121099
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.456G>A (p.Glu152=) rs1588583553
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.579G>A (p.Thr193=) rs769703434
NM_000118.3(ENG):c.582C>T (p.Leu194=) rs140663846
NM_000118.3(ENG):c.627G>A (p.Leu209=) rs763087751
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.67+7G>A rs1455679426
NM_000118.3(ENG):c.68-9C>G rs200772068
NM_000118.3(ENG):c.684G>A (p.Ser228=) rs368752783
NM_000118.3(ENG):c.690-4G>A rs762621671
NM_000118.3(ENG):c.690-5C>T rs374628465
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.741C>T (p.Leu247=) rs201457707
NM_000118.3(ENG):c.774C>T (p.Tyr258=) rs537154767
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.817-8A>G rs753576292
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_000118.3(ENG):c.954G>A (p.Pro318=) rs149590262
NM_000118.3(ENG):c.975T>G (p.Leu325=) rs776872127
NM_000118.3(ENG):c.992-6C>T rs756890201
NM_000118.3(ENG):c.996T>C (p.Gly332=) rs759964114
NM_000118.3(ENG):c.999G>A (p.Arg333=) rs371174838
NM_001114753.2(ENG):c.*461_*464AACT[1] rs41514846
NM_001114753.3(ENG):c.*449C>G
NM_001114753.3(ENG):c.*492G>A
NM_001114753.3(ENG):c.*558A>G
NM_001114753.3(ENG):c.1002G>A (p.Leu334=)
NM_001114753.3(ENG):c.1023C>A (p.Ile341=)
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_001114753.3(ENG):c.1134+92G>A
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.1742-10C>T
NM_001114753.3(ENG):c.1742-9C>T
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_001114753.3(ENG):c.1815G>A (p.Leu605=)
NM_001114753.3(ENG):c.1836C>T (p.Tyr612=)
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.1851G>A (p.Thr617=)
NM_001114753.3(ENG):c.1852+11C>T
NM_001114753.3(ENG):c.1853-27C>T
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_001114753.3(ENG):c.1977G>A (p.Ter659=)
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_001114753.3(ENG):c.218C>T (p.Thr73Met)
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro)
NM_001114753.3(ENG):c.255C>T (p.Ser85=)
NM_001114753.3(ENG):c.285G>A (p.Val95=)
NM_001114753.3(ENG):c.417A>C (p.Pro139=)
NM_001114753.3(ENG):c.524-13C>T
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_001114753.3(ENG):c.606C>T (p.Ala202=)
NM_001114753.3(ENG):c.615G>T (p.Arg205=)
NM_001114753.3(ENG):c.618C>A (p.Gly206=)
NM_001114753.3(ENG):c.654G>A (p.Ala218=)
NM_001114753.3(ENG):c.654G>C (p.Ala218=)
NM_001114753.3(ENG):c.663G>A (p.Leu221=)
NM_001114753.3(ENG):c.672G>A (p.Leu224=)
NM_001114753.3(ENG):c.705G>A (p.Thr235=)
NM_001114753.3(ENG):c.705G>C (p.Thr235=)
NM_001114753.3(ENG):c.708G>A (p.Val236=)
NM_001114753.3(ENG):c.729A>C (p.Ala243=)
NM_001114753.3(ENG):c.747C>T (p.Ala249=)
NM_001114753.3(ENG):c.753C>T (p.Leu251=)
NM_001114753.3(ENG):c.768C>T (p.Pro256=)
NM_001114753.3(ENG):c.786C>T (p.Leu262=)
NM_001114753.3(ENG):c.792C>T (p.Asp264=)
NM_001114753.3(ENG):c.817-5A>G
NM_001114753.3(ENG):c.819C>T (p.Thr273=)
NM_001114753.3(ENG):c.822T>C (p.Thr274=)
NM_001114753.3(ENG):c.831C>T (p.Tyr277=)
NM_001114753.3(ENG):c.867C>T (p.Gly289=)
NM_001114753.3(ENG):c.942C>T (p.Phe314=)
NM_001114753.3(ENG):c.991+8C>A
NM_001114753.3(ENG):c.992-5C>A
NM_001114753.3(ENG):c.9C>T (p.Arg3=)

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