Related gene-specific medical variations for Gene (Select 25819) - 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: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200998	NM_012118.4(NOCT):c.80G>A (p.Gly27Glu)	LOC129993098, NOCT (G27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200995	NM_012118.4(NOCT):c.175T>G (p.Ser59Ala)	LOC129993098, NOCT (S59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685992	GRCh37/hg19 4q28.3-31.1(chr4:139462517-139955614)x3	NOCT	Copy number gain	not provided	GUncertain significance
Select item 2213158	NM_012118.4(NOCT):c.32C>T (p.Ala11Val)	LOC129993098, NOCT (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203778	NM_012118.4(NOCT):c.185G>C (p.Arg62Pro)	LOC129993098, NOCT (R62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File