"GeneDx"[submitter] AND "SLC32A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 3368621	NM_080552.3(SLC32A1):c.144C>A (p.Asp48Glu)	SLC32A1 (D48E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365638	NM_080552.3(SLC32A1):c.272C>G (p.Ala91Gly)	SLC32A1 (A91G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3372076	NM_080552.3(SLC32A1):c.425T>C (p.Leu142Pro)	SLC32A1 (L142P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373535	NM_080552.3(SLC32A1):c.650C>G (p.Thr217Arg)	SLC32A1 (T217R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363678	NM_080552.3(SLC32A1):c.1388T>G (p.Leu463Arg)	SLC32A1 (L463R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 918044	NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg)	SLC32A1 (T464R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446539	NM_080552.3(SLC32A1):c.1435C>A (p.Arg479Ser)	SLC32A1 (R479S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar