GLMN Chromosome 1

Glomulin, FKBP associated protein

40 variants 40 Health Risk

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What This Gene Does

This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Associated Conditions (7)

Glomuvenous malformation

Inborn genetic diseases

Blue rubber bleb nevus

Vascular skin disorders

GLMN-related disorder

See cases

Venous malformation

Key Variants

RS139743855

Conflicting classifications of pathogenicity

Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation

Health Risk

RS145762716

Conflicting classifications of pathogenicity

Glomuvenous malformation, Blue rubber bleb nevus, Glomuvenous malformation

Health Risk

RS147889200

Conflicting classifications of pathogenicity

Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation

Health Risk

RS150536401

Conflicting classifications of pathogenicity

Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation

Health Risk

RS188879204

Conflicting classifications of pathogenicity

Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation

Health Risk

RS755342217

Conflicting classifications of pathogenicity

Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation

Health Risk

RS771252983

Conflicting classifications of pathogenicity

Glomuvenous malformation, Vascular skin disorders, Glomuvenous malformation

Health Risk

RS1258933474

Likely pathogenic

Glomuvenous malformation, Glomuvenous malformation

Health Risk

RS1375310236

Likely pathogenic

Glomuvenous malformation, Glomuvenous malformation

Health Risk

RS1570898051

Likely pathogenic

Glomuvenous malformation, Glomuvenous malformation

Health Risk

RS1570993763

Likely pathogenic

Glomuvenous malformation, Glomuvenous malformation

Health Risk

RS1655201565

Likely pathogenic

Glomuvenous malformation, Glomuvenous malformation

Health Risk

All Variants (40)

RSID	Category	Clinical Significance	Conditions
RS139743855	Health Risk	Conflicting classifications of pathogenicity	Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation
RS145762716	Health Risk	Conflicting classifications of pathogenicity	Glomuvenous malformation, Blue rubber bleb nevus, Glomuvenous malformation
RS147889200	Health Risk	Conflicting classifications of pathogenicity	Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation
RS150536401	Health Risk	Conflicting classifications of pathogenicity	Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation
RS188879204	Health Risk	Conflicting classifications of pathogenicity	Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation
RS755342217	Health Risk	Conflicting classifications of pathogenicity	Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation
RS771252983	Health Risk	Conflicting classifications of pathogenicity	Glomuvenous malformation, Vascular skin disorders, Glomuvenous malformation
RS1258933474	Health Risk	Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS1375310236	Health Risk	Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS1570898051	Health Risk	Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS1570993763	Health Risk	Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS1655201565	Health Risk	Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS1656251554	Health Risk	Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS2523746202	Health Risk	Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS2524152962	Health Risk	Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS751408583	Health Risk	Likely pathogenic	Vascular skin disorders, Vascular skin disorders
RS754288444	Health Risk	Likely pathogenic	—
RS778651218	Health Risk	Likely pathogenic	—
RS1057520767	Health Risk	Pathogenic	—
RS1064794247	Health Risk	Pathogenic	—
RS1444604286	Health Risk	Pathogenic	—
RS1473949861	Health Risk	Pathogenic	—
RS1557497881	Health Risk	Pathogenic	Blue rubber bleb nevus, Blue rubber bleb nevus
RS2100872124	Health Risk	Pathogenic	Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation
RS2100903095	Health Risk	Pathogenic	—
RS2101037835	Health Risk	Pathogenic	—
RS2524154110	Health Risk	Pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS2524227371	Health Risk	Pathogenic	—
RS762515373	Health Risk	Pathogenic	Glomuvenous malformation, GLMN-related disorder, Inborn genetic diseases
RS774710697	Health Risk	Pathogenic	—
RS909548615	Health Risk	Pathogenic	—
RS1570964992	Health Risk	Pathogenic/Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation
RS2100916637	Health Risk	Pathogenic/Likely pathogenic	See cases, Vascular skin disorders, See cases
RS750074519	Health Risk	Pathogenic/Likely pathogenic	GLMN-related disorder, Glomuvenous malformation, GLMN-related disorder
RS754756178	Health Risk	Pathogenic/Likely pathogenic	Glomuvenous malformation, Inborn genetic diseases, Glomuvenous malformation
RS770780171	Health Risk	Pathogenic/Likely pathogenic	Venous malformation, Glomuvenous malformation, Venous malformation
RS773060450	Health Risk	Pathogenic/Likely pathogenic	Glomuvenous malformation, GLMN-related disorder, Glomuvenous malformation
RS773435694	Health Risk	Pathogenic/Likely pathogenic	Glomuvenous malformation, GLMN-related disorder, Glomuvenous malformation
RS773442562	Health Risk	Pathogenic/Likely pathogenic	Glomuvenous malformation, GLMN-related disorder, Inborn genetic diseases
RS925708240	Health Risk	Pathogenic/Likely pathogenic	Glomuvenous malformation, Glomuvenous malformation