ClinVar for MedGen (Select 101799) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2 (E1099K)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +14 more	GConflicting classifications of pathogenicity
Select item 135653	NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)	COL4A1 (G696S)	Single nucleotide variant (missense variant)	Intraventricular hemorrhage +3 more	GPathogenic

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