C5561957[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699174	NM_003128.3(SPTBN1):c.1226C>T (p.Ala409Val)	SPTBN1 (A396V +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely benign
Select item 1805969	NM_003128.3(SPTBN1):c.1429C>T (p.Arg477Cys)	SPTBN1 (R464C +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic