"GeneDx"[submitter] AND "GLDN"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 1281028	NC_000015.10:g.51341320A>G	GLDN	Single nucleotide variant	not provided	GBenign
Select item 1287452	NC_000015.10:g.51341432G>A	GLDN	Single nucleotide variant	not provided	GBenign
Select item 3252646	NM_181789.4(GLDN):c.62C>A (p.Ala21Glu)	GLDN (A21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272774	NM_181789.4(GLDN):c.180C>T (p.Arg60=)	GLDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 523974	NM_181789.4(GLDN):c.330del (p.Asp110fs)	GLDN (D110fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1262424	NM_181789.4(GLDN):c.363+11T>G	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222818	NM_181789.4(GLDN):c.363+60G>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294835	NM_181789.4(GLDN):c.363+68G>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289339	NM_181789.4(GLDN):c.363+81_363+97del	GLDN	Deletion (intron variant)	not provided	GBenign
Select item 1255152	NM_181789.4(GLDN):c.363+99C>A	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274969	NM_181789.4(GLDN):c.364-147G>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225115	NM_181789.4(GLDN):c.364-21A>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283669	NM_181789.4(GLDN):c.415+7T>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264047	NM_181789.4(GLDN):c.415+44G>A	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223110	NM_181789.4(GLDN):c.416-132C>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275000	NM_181789.4(GLDN):c.416-8C>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242815	NM_181789.4(GLDN):c.434-101del	GLDN	Deletion (intron variant)	not provided	GBenign
Select item 1294840	NM_181789.4(GLDN):c.472T>G (p.Leu158Val)	GLDN (L158V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1233448	NM_181789.4(GLDN):c.541+127C>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290578	NM_181789.4(GLDN):c.541+143A>G	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272062	NM_181789.4(GLDN):c.542-222AATA[6]	GLDN	Microsatellite (intron variant)	not provided	GBenign
Select item 1245993	NM_181789.4(GLDN):c.688+72G>A	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234703	NM_181789.4(GLDN):c.688+96T>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182706	NM_181789.4(GLDN):c.689-121_689-120insTCCT	GLDN	Insertion (intron variant)	not provided	GBenign
Select item 1289352	NM_181789.4(GLDN):c.689-43A>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267205	NM_181789.4(GLDN):c.818-29G>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236723	NM_181789.4(GLDN):c.1179-52T>G	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452117	NM_181789.4(GLDN):c.1179-2A>G	GLDN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 452116	NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)	GLDN (F476L +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +3 more	GPathogenic/Likely pathogenic
Select item 449987	NM_181789.4(GLDN):c.1436G>C (p.Arg479Pro)	GLDN (R479P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1223296	NM_181789.4(GLDN):c.1561G>A (p.Ala521Thr)	GLDN (A397T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 32