ClinVar for MedGen (Select 1824008) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336615	NM_001257293.2(HNRNPH1):c.245_246del (p.Tyr82fs)	HNRNPH1, LOC128966623 (Y5fs +1 more)	Microsatellite (frameshift variant +2 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GPathogenic
Select item 3255500	NM_001257293.2(HNRNPH1):c.1060C>G (p.His354Asp)	HNRNPH1, LOC128966623 (H153D +6 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GUncertain significance
Select item 2504619	NM_001257293.2(HNRNPH1):c.1117+19G>A	HNRNPH1, LOC128966623 (G273D +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GUncertain significance
Select item 2432514	NM_001257293.2(HNRNPH1):c.668G>T (p.Gly223Val)	HNRNPH1, LOC128966623 (G146V +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GUncertain significance
Select item 1711742	NM_001257293.2(HNRNPH1):c.617G>A (p.Arg206Gln)	HNRNPH1, LOC128966623 (R206Q +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GPathogenic
Select item 1711741	NM_001257293.2(HNRNPH1):c.1240_1243dup (p.Gln415fs)	HNRNPH1, LOC128966623 (Q204fs +14 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GPathogenic
Select item 1711740	NM_001257293.2(HNRNPH1):c.618dup (p.Pro207fs)	HNRNPH1, LOC128966623 (P130fs +3 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GPathogenic
Select item 985769	NM_001257293.2(HNRNPH1):c.616C>T (p.Arg206Trp)	HNRNPH1, LOC128966623 (R154W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic