ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.12:g.(?_134842137)_(134842323_?)del
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser)
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His)
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser)
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=)
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly)
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=)
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser)
NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp)
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn)
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp)
NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu)
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile)
NM_000093.5(COL5A1):c.5065G>A (p.Gly1689Arg)
NM_000093.5(COL5A1):c.5068-9C>T
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His)
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg)
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=)
NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr)
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln)
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser)
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly)
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser)
NM_000093.5(COL5A1):c.5411C>G (p.Thr1804Ser)
NM_000093.5(COL5A1):c.5413C>T (p.Pro1805Ser)
NM_000093.5(COL5A1):c.5416A>G (p.Lys1806Glu)
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro)
NM_001278074.1(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_001278074.1(COL5A1):c.4487A>G (p.Glu1496Gly) rs1588589560
NM_001278074.1(COL5A1):c.4495G>A (p.Glu1499Lys) rs1060502261
NM_001278074.1(COL5A1):c.4507C>T (p.Arg1503Cys) rs200987038
NM_001278074.1(COL5A1):c.4508G>A (p.Arg1503His) rs373653069
NM_001278074.1(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561
NM_001278074.1(COL5A1):c.4554+5G>A rs375489070
NM_001278074.1(COL5A1):c.4573G>A (p.Gly1525Ser) rs1564484053
NM_001278074.1(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954
NM_001278074.1(COL5A1):c.4612C>A (p.Pro1538Thr) rs1554807720
NM_001278074.1(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633
NM_001278074.1(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460
NM_001278074.1(COL5A1):c.4654G>A (p.Gly1552Ser) rs1554807811
NM_001278074.1(COL5A1):c.4676A>C (p.His1559Pro) rs768691969
NM_001278074.1(COL5A1):c.4693C>T (p.Pro1565Ser) rs770278589
NM_001278074.1(COL5A1):c.4698G>A (p.Pro1566=) rs147904867
NM_001278074.1(COL5A1):c.4706C>T (p.Pro1569Leu) rs1297565068
NM_001278074.1(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943
NM_001278074.1(COL5A1):c.4739C>T (p.Ala1580Val) rs528826181
NM_001278074.1(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580
NM_001278074.1(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410
NM_001278074.1(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
NM_001278074.1(COL5A1):c.4762G>A (p.Asp1588Asn) rs863223480
NM_001278074.1(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881
NM_001278074.1(COL5A1):c.4804G>A (p.Val1602Met) rs201771867
NM_001278074.1(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_001278074.1(COL5A1):c.4863G>T (p.Glu1621Asp) rs1064794238
NM_001278074.1(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147
NM_001278074.1(COL5A1):c.4880G>A (p.Arg1627Gln) rs761802703
NM_001278074.1(COL5A1):c.4887G>A (p.Leu1629=) rs1588598230
NM_001278074.1(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683
NM_001278074.1(COL5A1):c.4897C>G (p.Gln1633Glu) rs1588598244
NM_001278074.1(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375
NM_001278074.1(COL5A1):c.4911C>T (p.Arg1637=) rs778483767
NM_001278074.1(COL5A1):c.4940C>T (p.Pro1647Leu) rs140669047
NM_001278074.1(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518
NM_001278074.1(COL5A1):c.4954+4A>G rs1564487377
NM_001278074.1(COL5A1):c.4954+6G>C rs1031138847
NM_001278074.1(COL5A1):c.4990A>G (p.Arg1664Gly) rs1588599794
NM_001278074.1(COL5A1):c.5012G>A (p.Cys1671Tyr) rs1554808357
NM_001278074.1(COL5A1):c.5028G>T (p.Gly1676=) rs367902089
NM_001278074.1(COL5A1):c.5033C>G (p.Ser1678Trp) rs145299315
NM_001278074.1(COL5A1):c.5039G>T (p.Cys1680Phe) rs1588599870
NM_001278074.1(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065
NM_001278074.1(COL5A1):c.5068-103C>G rs138396959
NM_001278074.1(COL5A1):c.5159G>T (p.Gly1720Val) rs1243519195
NM_001278074.1(COL5A1):c.5162A>G (p.Asn1721Ser) rs1482037877
NM_001278074.1(COL5A1):c.5182A>G (p.Met1728Val) rs138068984
NM_001278074.1(COL5A1):c.5224G>A (p.Val1742Ile) rs946316218
NM_001278074.1(COL5A1):c.5234A>G (p.His1745Arg) rs370607849
NM_001278074.1(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883
NM_001278074.1(COL5A1):c.5303G>A (p.Gly1768Asp) rs1588615582
NM_001278074.1(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744
NM_001278074.1(COL5A1):c.5317del (p.Glu1773fs) rs1554726283
NM_001278074.1(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_001278074.1(COL5A1):c.5326T>C (p.Tyr1776His) rs778249693
NM_001278074.1(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603
NM_001278074.1(COL5A1):c.5339C>A (p.Pro1780His) rs746104317
NM_001278074.1(COL5A1):c.5348G>A (p.Arg1783His) rs777045810
NM_001278074.1(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611
NM_001278074.1(COL5A1):c.5420T>A (p.Val1807Glu) rs1588621758
NM_001278074.1(COL5A1):c.5432C>T (p.Pro1811Leu) rs1554727362
NM_001278074.1(COL5A1):c.5461G>A (p.Gly1821Ser) rs773709219
NM_001278074.1(COL5A1):c.5468C>T (p.Ala1823Val) rs747656987
NM_001278074.1(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_001278074.1(COL5A1):c.5495G>A (p.Gly1832Glu) rs1554727410
NM_001278074.1(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226
NM_001278074.1(COL5A1):c.5498dup (p.Ala1834fs) rs1564191704
NM_001278074.1(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246

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