"Athena Diagnostics"[submitter] AND "ESPN"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804795	NM_031475.3(ESPN):c.667G>C (p.Val223Leu)	ESPN, LOC129929241 (V223L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508130	NM_031475.3(ESPN):c.702C>G (p.Ser234=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 226635	NM_031475.3(ESPN):c.2070G>A (p.Ser690=)	ESPN	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 36 +3 more	GBenign/Likely benign

Format

Sort by

Choose Destination

ClinVar