"Undiagnosed Diseases Network, NIH"[submitter] AND "SPTBN1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636237	NM_003128.3(SPTBN1):c.613G>A (p.Gly205Ser)	SPTBN1 (G205S +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related neurodevelopmental disease	GUncertain significance
Select item 1172531	NM_003128.3(SPTBN1):c.803C>G (p.Thr268Ser)	SPTBN1 (T255S +1 more)	Single nucleotide variant (missense variant)	SPTBN1-related disorder	GPathogenic