Related gene-specific medical variations for Gene (Select 5119) - ClinVar

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

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065748	NM_002768.5(CHMP1A):c.65C>T (p.Ala22Val)	CHMP1A (A22V)	Single nucleotide variant (synonymous variant +2 more)	Pontocerebellar hypoplasia type 8	GUncertain significance
Select item 2442121	NM_002768.5(CHMP1A):c.28-2A>G	CHMP1A	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 8	GLikely pathogenic
Select item 1292595	NM_002768.5(CHMP1A):c.7+120C>T	CHMP1A, LOC130059827	Single nucleotide variant (intron variant)	not provided	GBenign

Format

Sort by

Choose Destination