"Baylor Genetics"[submitter] AND "PPP2R3A"[gene] - 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: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523197	GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1	LOC129937632, LOC129937633 +11 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523198	GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1	IL20RB, IL20RB-AS1 +26 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File