"NEUROCHILD, Pediatric Research Center"[submitter] AND "EBF3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 620273	NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter)	EBF3 (R395* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 375494	NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)	EBF3 (R209W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1048549	NM_001375380.1(EBF3):c.622dup (p.Met208fs)	EBF3 (M208fs)	Duplication (frameshift variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 224085	NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu)	EBF3 (P177L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1048551	GRCh37/hg19 10q26.3(chr10:131243689-132131959)x3,4	EBF3, GLRX3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1048550	GRCh37/hg19 10q26.3(chr10:131542049-132107231)x1	EBF3, GLRX3 +1 more	Copy number loss	not provided	GPathogenic

ClinVar