"PreventionGenetics, part of Exact Sciences"[submitter] AND "EFEMP1"[g - 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 257227	NM_001039348.3(EFEMP1):c.1001-14C>T	EFEMP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2635191	NM_001039348.3(EFEMP1):c.888del (p.Asp296fs)	EFEMP1 (D296fs)	Deletion (frameshift variant)	EFEMP1-related disorder	GLikely pathogenic
Select item 1089240	NM_001039348.3(EFEMP1):c.761-8T>C	EFEMP1	Single nucleotide variant (intron variant)	EFEMP1-related disorder +1 more	GLikely benign
Select item 1156281	NM_001039348.3(EFEMP1):c.507C>T (p.Asn169=)	EFEMP1	Single nucleotide variant (synonymous variant)	EFEMP1-related disorder +1 more	GLikely benign
Select item 726660	NM_001039348.3(EFEMP1):c.297C>T (p.Thr99=)	EFEMP1	Single nucleotide variant (synonymous variant)	EFEMP1-related disorder +1 more	GBenign/Likely benign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File