"GeneDx"[submitter] AND "DPM3"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 1221369	NC_000001.11:g.155139661dup	DPM3	Duplication	not provided	GBenign
Select item 1180421	NC_000001.11:g.155139661del	DPM3	Deletion	not provided	GLikely benign
Select item 1211162	NC_000001.11:g.155139862C>T	DPM3	Single nucleotide variant	not provided	GLikely benign
Select item 382791	NM_153741.2(DPM3):c.*2A>G	DPM3	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 853040	NM_153741.2(DPM3):c.266G>A (p.Gly89Glu)	DPM3 (G119E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 292789	NM_153741.2(DPM3):c.249C>A (p.Ala83=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 387489	NM_153741.2(DPM3):c.60C>T (p.Ala20=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1410172	NM_153741.2(DPM3):c.19T>C (p.Trp7Arg)	DPM3 (W37R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 384058	NM_153741.2(DPM3):c.-5-80C>G	DPM3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 514076	NM_153741.2(DPM3):c.-6+19C>T	DPM3, LOC129931553	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 383631	NM_153741.2(DPM3):c.-6+6T>C	DPM3, LOC129931553	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 512572	NM_153741.2(DPM3):c.-11G>C	DPM3, LOC129931553	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511816	NM_153741.2(DPM3):c.-14G>C	DPM3, LOC129931553	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 31764	NM_153741.1(DPM3):c.-35-78T>G	DPM3, LOC129931553	Single nucleotide variant	not provided	GLikely benign
Select item 31765	NM_153741.1(DPM3):c.-35-108C>A	DPM3	Single nucleotide variant	not provided	GBenign