C5393908[trait identifier] AND "OMIM"[submitter] - 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 917895	NM_003470.3(USP7):c.3202+1G>T	USP7	Single nucleotide variant (splice donor variant)	Hao-Fountain syndrome	GPathogenic
Select item 522827	NM_003470.3(USP7):c.2169_2170del (p.Arg723fs)	USP7 (R665fs +3 more)	Microsatellite (frameshift variant +1 more)	USP7-related condition	GLikely pathogenic
Select item 917892	NM_003470.3(USP7):c.1728T>A (p.Cys576Ter)	USP7 (C576* +3 more)	Single nucleotide variant (nonsense +1 more)	Hao-Fountain syndrome	GPathogenic
Select item 440942	NM_003470.3(USP7):c.675G>A (p.Met225Ile)	USP7 (M225I +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GPathogenic
Select item 224721	NM_003470.3(USP7):c.429C>G (p.Tyr143Ter)	USP7 (Y143* +3 more)	Single nucleotide variant (nonsense +1 more)	Hao-Fountain syndrome	GPathogenic

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File