ClinVar for MedGen (Select 377914) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559433	NC_000008.10:g.[103335671_103389222del;103662755_103870397del]	UBR5, LOC130000924 +17 more	Deletion	Tall stature +6 more	GUncertain significance
Select item 371634	NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	NAGLU (Y140C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +10 more	GPathogenic/Likely pathogenic
Select item 1564	NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)	NAGLU (S169fs)	Deletion (frameshift variant)	not provided +10 more	GPathogenic

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