C2751682[trait identifier] AND "Center for Genomics, Ann and Robert H. - 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 987239	NM_003924.4(PHOX2B):c.866dup (p.Pro290fs)	PHOX2B (P290fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 2500068	NM_003924.4(PHOX2B):c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)	PHOX2B	Insertion (inframe_indel)	Neuroblastoma, susceptibility to, 2 +1 more	GPathogenic
Select item 2500070	NM_003924.4(PHOX2B):c.775_776insGGCGGCAGCGGCAGCGGCGGC (p.Ala259delinsGlyArgGlnArgGlnArgArgPro)	LOC110011216, PHOX2B	Insertion (inframe_indel)	Neuroblastoma, susceptibility to, 2 +1 more	GPathogenic
Select item 2500234	NM_003924.4(PHOX2B):c.745_746insGGCGGCCGCGGC (p.Ala249delinsGlyArgProArgPro)	LOC110011216, PHOX2B	Insertion (inframe_indel)	Neuroblastoma, susceptibility to, 2 +1 more	GLikely pathogenic

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File