C4310618[trait identifier] AND "Center for Molecular Medicine, Childre - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701823	NM_001375380.1(EBF3):c.631T>C (p.Phe211Leu)	EBF3 (F211L)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1701822	NM_001375380.1(EBF3):c.487C>G (p.Arg163Gly)	EBF3 (R163G)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1701824	NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys)	EBF3 (R152C)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1685311	NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln)	EBF3 (R63Q)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic

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