"GeneDx"[submitter] AND "SLC30A9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1242979	NM_006345.4(SLC30A9):c.9C>G (p.Pro3=)	SLC30A9	Single nucleotide variant (synonymous variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome +1 more	GBenign
Select item 1300159	NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	SLC30A9 (S14fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2663048	NM_006345.4(SLC30A9):c.638G>A (p.Arg213Lys)	SLC30A9 (R213K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662972	NM_006345.4(SLC30A9):c.1432G>A (p.Val478Ile)	SLC30A9 (V478I)	Single nucleotide variant (missense 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

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