"DYNC1I2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - 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 3060840	NM_001378.3(DYNC1I2):c.512-4dup	DYNC1I2	Duplication (intron variant)	DYNC1I2-related disorder	GBenign
Select item 3056366	NM_001378.3(DYNC1I2):c.512-5_512-4dup	DYNC1I2	Duplication (intron variant)	DYNC1I2-related disorder	GBenign
Select item 3056393	NM_001378.3(DYNC1I2):c.512-5_512-4del	DYNC1I2	Deletion (intron variant)	DYNC1I2-related disorder	GBenign
Select item 3055403	NM_001378.3(DYNC1I2):c.512-3C>A	DYNC1I2	Single nucleotide variant (intron variant)	DYNC1I2-related disorder	GLikely benign
Select item 3053885	NM_001378.3(DYNC1I2):c.1546C>G (p.Pro516Ala)	DYNC1I2 (P490A +3 more)	Single nucleotide variant (missense variant)	DYNC1I2-related disorder	GLikely benign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File