C5561957[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444107	NM_003128.3(SPTBN1):c.865C>T (p.Arg289Ter)	SPTBN1 (R276* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1321304	NM_003128.3(SPTBN1):c.2471T>C (p.Leu824Pro)	SPTBN1 (L811P +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2444247	NM_003128.3(SPTBN1):c.3928C>T (p.His1310Tyr)	SPTBN1 (H1297Y +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1333572	NM_003128.3(SPTBN1):c.4751G>A (p.Arg1584His)	SPTBN1 (R1571H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1321303	NM_003128.3(SPTBN1):c.5708G>A (p.Arg1903His)	SPTBN1 (R1890H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1333632	NM_003128.3(SPTBN1):c.5746T>C (p.Phe1916Leu)	SPTBN1 (F1903L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance

ClinVar