Related gene-specific medical variations for Gene (Select 83715) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065194	NM_031475.3(ESPN):c.1762G>A (p.Asp588Asn)	ESPN (D558N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36	GUncertain significance
Select item 2689032	NM_031475.3(ESPN):c.200C>T (p.Ala67Val)	ESPN (A67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578308	NM_031475.3(ESPN):c.665T>A (p.Ile222Asn)	ESPN, LOC129929241 (I222N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441302	NM_031475.3(ESPN):c.770G>A (p.Ser257Asn)	ESPN (S257N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441301	NM_031475.3(ESPN):c.2377C>G (p.Leu793Val)	ESPN (L763V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1664709	NM_031475.3(ESPN):c.669G>A (p.Val223=)	ESPN, LOC129929241	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1280932	NM_031475.3(ESPN):c.675+47G>A	ESPN, LOC129929241	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275204	NM_031475.3(ESPN):c.-138C>T	ESPN, LOC129929238	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1265345	NM_031475.3(ESPN):c.-136A>G	ESPN, LOC129929238	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1259520	NM_031475.3(ESPN):c.676-89dup	ESPN, LOC129929241	Duplication (intron variant)	not provided	GBenign
Select item 1217526	NM_031475.3(ESPN):c.676-89del	LOC129929241, ESPN	Deletion (intron variant)	not provided	GLikely benign
Select item 1207661	NM_031475.3(ESPN):c.-13C>T	ESPN, LOC129929239	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1202200	NM_031475.3(ESPN):c.-49G>A	ESPN, LOC129929239	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 806043	NM_031475.3(ESPN):c.381C>T (p.Gly127=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 806042	NM_031475.3(ESPN):c.28G>C (p.Ala10Pro)	ESPN (A10P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 794694	NM_031475.3(ESPN):c.675+8C>G	ESPN, LOC129929241	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680211	NM_031475.3(ESPN):c.675+9C>G	ESPN, LOC129929241	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508703	NM_031475.3(ESPN):c.675+9C>T	ESPN, LOC129929241	Single nucleotide variant (intron variant)	not specified +1 more	GBenign