C4310618[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430930	NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln)	EBF3 (R209Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 375494	NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)	EBF3 (R209W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 375503	NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)	EBF3 (R206*)	Single nucleotide variant (nonsense)	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 375375	NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp)	EBF3 (G171D)	Single nucleotide variant (missense variant)	Generalized hypotonia +4 more	GPathogenic
Select item 375500	NM_001375380.1(EBF3):c.488G>C (p.Arg163Pro)	EBF3 (R163P)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 268156	NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	EBF3 (R163Q)	Single nucleotide variant (missense variant)	Intellectual disability +8 more	GPathogenic
Select item 268155	NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu)	EBF3 (R163L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 374797	NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp)	EBF3 (R163W)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GConflicting classifications of pathogenicity

ClinVar