Related gene-specific medical variations for Gene (Select 54344) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247791	NC_000001.10:g.(?_155112418)_(155112826_?)del	DPM3	Deletion	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 2441026	NM_153741.2(DPM3):c.18G>C (p.Gln6His)	DPM3 (Q36H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514076	NM_153741.2(DPM3):c.-6+19C>T	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 383631	NM_153741.2(DPM3):c.-6+6T>C	DPM3, LOC129931553	Single nucleotide variant (intron variant)	not specified	GLikely benign

ClinVar