"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ESPN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449818	NM_031475.3(ESPN):c.935C>T (p.Ser312Leu)	ESPN (S312L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 517052	NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile)	ESPN (T429I)	Single nucleotide variant (missense variant)	Usher syndrome, type 1M +2 more	GBenign/Likely benign
Select item 1012722	NM_031475.3(ESPN):c.1386A>G (p.Val462=)	ESPN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1219107	NM_031475.3(ESPN):c.1803GCC[5] (p.Pro605dup)	ESPN	Microsatellite (inframe_insertion)	not provided +2 more	GLikely benign
Select item 1307782	NM_031475.3(ESPN):c.2069C>T (p.Ser690Leu)	ESPN (S660L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36 +2 more	GUncertain significance
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
Select item 4421	NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn)	ESPN (D744N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar