"OMIM"[submitter] AND "MESD"[gene] - 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: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692263	NM_015154.3(MESD):c.676C>T (p.Arg226Ter)	MESD (R226*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta, type 20	GPathogenic
Select item 692262	NM_015154.3(MESD):c.632dup (p.Lys212fs)	MESD (K212fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 692264	NM_015154.3(MESD):c.631_632del (p.Lys211fs)	MESD (K211fs)	Deletion (frameshift variant +1 more)	Osteogenesis imperfecta, type 20	GPathogenic
Select item 692265	NM_015154.3(MESD):c.607_611del (p.Thr203fs)	MESD (T203fs)	Deletion (frameshift variant +1 more)	Osteogenesis imperfecta, type 20	GPathogenic
Select item 2443890	NM_015154.3(MESD):c.265del (p.Ala89fs)	MESD (A89fs)	Deletion (frameshift variant +1 more)	Osteogenesis imperfecta, type 20	GPathogenic

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File