"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 508587	NM_031475.3(ESPN):c.706C>G (p.Gln236Glu)	ESPN (Q236E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 178607	NM_031475.3(ESPN):c.1069C>T (p.Pro357Ser)	ESPN (P357S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 811683	NM_031475.3(ESPN):c.1248G>A (p.Pro416=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 676419	NM_031475.3(ESPN):c.1265G>A (p.Arg422Gln)	ESPN (R422Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 508596	NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del)	ESPN	Deletion (inframe_deletion)	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
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