"GeneDx"[submitter] AND "RNPC3"[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: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 1064669	NM_017619.4(RNPC3):c.613C>T (p.Arg205Ter)	RNPC3 (R205*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3376054	NM_017619.4(RNPC3):c.1207+3A>G	RNPC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File