ClinVar for MedGen (Select 1824004) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689220	NM_005826.5(HNRNPR):c.1289C>T (p.Ala430Val)	HNRNPR (A270V +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GUncertain significance
Select item 2582486	NM_005826.5(HNRNPR):c.473G>C (p.Gly158Ala)	HNRNPR (G158A +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GUncertain significance
Select item 1710309	NM_005826.5(HNRNPR):c.1754G>A (p.Arg585His)	HNRNPR (R588H +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GPathogenic
Select item 1710308	NM_005826.5(HNRNPR):c.1643dup (p.Pro549fs)	HNRNPR (P389fs +6 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GPathogenic
Select item 1710307	NM_005826.5(HNRNPR):c.1600dup (p.Ala534fs)	HNRNPR (A374fs +6 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GPathogenic
Select item 520674	NM_005826.5(HNRNPR):c.1654C>T (p.Gln552Ter)	HNRNPR (Q555* +6 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic

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