ClinVar for MedGen (Select 56382) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598951	NM_000202.8(IDS):c.248T>G (p.Val83Gly)	IDS (V83G)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II +6 more	GUncertain significance
Select item 523310	GRCh37/hg19 14q24.3(chr14:76105695-76107636)	FLVCR2	Copy number loss	Ventriculomegaly +6 more	GUncertain significance