Related gene-specific medical variations for Gene (Select 9777) - ClinVar - NCBI

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

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Links from Gene

Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178168	NM_014742.4(TM9SF4):c.11C>T (p.Ala4Val)	LOC126863012, TM9SF4 (A4V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2429936	NM_014742.4(TM9SF4):c.1411G>A (p.Gly471Ser)	TM9SF4 (G454S +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2349245	NM_014742.4(TM9SF4):c.7A>G (p.Thr3Ala)	LOC126863012, TM9SF4 (T3A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 152498	GRCh38/hg38 20q11.21(chr20:32113570-32127947)x3	TM9SF4	Copy number gain	See cases	GLikely benign

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File