"Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes"[ - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701907	NM_003128.3(SPTBN1):c.646C>T (p.Arg216Trp)	SPTBN1 (R203W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1321938	NM_003128.3(SPTBN1):c.811G>A (p.Val271Met)	SPTBN1 (V258M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627835	NM_003128.3(SPTBN1):c.1922G>A (p.Trp641Ter)	SPTBN1 (W628* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1321930	NM_003128.3(SPTBN1):c.2887G>A (p.Glu963Lys)	SPTBN1 (E950K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File