"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GLDN"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 807260	NM_181789.4(GLDN):c.95C>G (p.Ala32Gly)	GLDN (A32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546754	NM_181789.4(GLDN):c.269C>T (p.Ala90Val)	GLDN (A90V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1879295	NM_181789.4(GLDN):c.390C>T (p.Asn130=)	GLDN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 546755	NM_181789.4(GLDN):c.931G>A (p.Val311Met)	GLDN (V311M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452117	NM_181789.4(GLDN):c.1179-2A>G	GLDN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1711382	NM_181789.4(GLDN):c.1494G>C (p.Leu498Phe)	GLDN (L374F +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1711396	GRCh37/hg19 15q21.2(chr15:51633882-51696951)x1	GLDN	Copy number loss	not provided	GPathogenic

ClinVar