C4310618[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442003	NM_001375380.1(EBF3):c.1435C>T (p.Gln479Ter)	EBF3 (Q470* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 1029993	NM_001375380.1(EBF3):c.1372+3A>G	EBF3	Single nucleotide variant (intron variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1029992	NM_001375380.1(EBF3):c.1151C>T (p.Ala384Val)	EBF3 (A384V +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely 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 268156	NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	EBF3 (R163Q)	Single nucleotide variant (missense variant)	Global developmental delay +8 more	GPathogenic
Select item 268155	NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu)	EBF3 (R163L)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GPathogenic
Select item 1032516	NM_001375380.1(EBF3):c.291+2del	EBF3	Deletion (splice donor variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 1032515	NM_001375380.1(EBF3):c.220C>T (p.Leu74Phe)	EBF3 (L74F)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1032517	NM_001375380.1(EBF3):c.82C>A (p.Arg28Ser)	EBF3 (R28S)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance