List of variants reported as likely pathogenic for syndromic dyslipidemia by Myriad Genetics, Inc.

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

Total variants: 93

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	rs80338856	0.00012
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	rs121909152	0.00005
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	rs80338857	0.00004
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	rs121909151	0.00003
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)	rs398123351	0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	rs80338864	0.00003
NM_000288.4(PEX7):c.188+1G>C	rs267608254	0.00001
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)	rs28934886	0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	rs80338855	0.00001
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
NM_000235.4(LIPA):c.160G>T (p.Glu54Ter)	rs1843015393
NM_000235.4(LIPA):c.226A>T (p.Lys76Ter)
NM_000235.4(LIPA):c.313_314del (p.Gly105fs)
NM_000235.4(LIPA):c.384del (p.Lys128fs)
NM_000235.4(LIPA):c.420_421del (p.Trp140fs)
NM_000235.4(LIPA):c.447del (p.Lys149fs)
NM_000235.4(LIPA):c.479_480del (p.Leu160fs)
NM_000235.4(LIPA):c.605_618del (p.Pro202fs)
NM_000235.4(LIPA):c.685G>T (p.Gly229Ter)
NM_000235.4(LIPA):c.805G>T (p.Glu269Ter)	rs1842729716
NM_000235.4(LIPA):c.815T>A (p.Leu272Ter)	rs1842729511
NM_000235.4(LIPA):c.826A>T (p.Arg276Ter)	rs1842714308
NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)
NM_000288.4(PEX7):c.122_123del (p.Gly41fs)
NM_000288.4(PEX7):c.206del (p.Gly69fs)
NM_000288.4(PEX7):c.297del (p.Ala100fs)
NM_000288.4(PEX7):c.323_324del (p.Lys108fs)
NM_000288.4(PEX7):c.463G>T (p.Glu155Ter)
NM_000288.4(PEX7):c.46_47del (p.Gly16fs)
NM_000288.4(PEX7):c.622A>T (p.Lys208Ter)
NM_000288.4(PEX7):c.638dup (p.Leu213fs)
NM_000288.4(PEX7):c.668T>A (p.Leu223Ter)
NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs)
NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)
NM_000382.3(ALDH3A2):c.1023_1026del (p.Val342fs)
NM_000382.3(ALDH3A2):c.1096del (p.His366fs)
NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)
NM_000382.3(ALDH3A2):c.253_254del (p.Lys85fs)
NM_000382.3(ALDH3A2):c.257_259delinsCACTCAGC (p.Lys86fs)
NM_000382.3(ALDH3A2):c.420_426del (p.Ser140fs)
NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)
NM_000382.3(ALDH3A2):c.522_523del (p.Lys175fs)
NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)
NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)
NM_000382.3(ALDH3A2):c.653_654del (p.Lys218fs)
NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)
NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)
NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)
NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter)
NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)
NM_000404.4(GLB1):c.1142del (p.Lys381fs)	rs2125478934
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)	rs1697335361
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)	rs1697334156
NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)
NM_000404.4(GLB1):c.230_231del (p.Leu77fs)
NM_000404.4(GLB1):c.487_488del (p.Gly163fs)
NM_000404.4(GLB1):c.500_501del (p.Pro167fs)
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)	rs1699086565
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)	rs1378338444
NM_000404.4(GLB1):c.835del (p.Gln279fs)
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)	rs1699002261
NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)	rs1943689487
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)	rs1943689766
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)	rs1943689944
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)	rs1943690848
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)
NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)	rs186812403
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)	rs1414259537
NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)	rs1943736070
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)	rs1943741125
NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter)	rs1467346010
NM_001360.3(DHCR7):c.155_157delinsCCAT (p.Phe52fs)
NM_001360.3(DHCR7):c.177_178delinsT (p.Met59fs)
NM_001360.3(DHCR7):c.199del (p.Ala67fs)
NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter)	rs1949375897
NM_001360.3(DHCR7):c.305T>A (p.Leu102Ter)
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)	rs1949357136
NM_001360.3(DHCR7):c.401_402del (p.Val134fs)
NM_001360.3(DHCR7):c.495_496del (p.Ser166fs)
NM_001360.3(DHCR7):c.567T>A (p.Tyr189Ter)
NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter)	rs1949322246
NM_001360.3(DHCR7):c.630del (p.Lys210fs)
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)	rs80338858

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