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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804342	NM_003359.4(UGDH):c.949C>T (p.Arg317Trp)	UGDH (R220W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430826	NM_003359.4(UGDH):c.709A>G (p.Ile237Val)	UGDH (I140V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503352	NM_003359.4(UGDH):c.528C>G (p.Asp176Glu)	UGDH (D109E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504423	NM_003359.4(UGDH):c.305G>A (p.Arg102Gln)	UGDH (R102Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504422	NM_003359.4(UGDH):c.265-6C>G	UGDH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

ClinVar