"GeneDx"[submitter] AND "MIR103A2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4556	NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)	MIR103A2, MIR103B2 +1 more (T237M +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +3 more	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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