Related gene-specific medical variations for Gene (Select 124976) - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1704253	NM_001124758.3(SPNS2):c.487G>A (p.Asp163Asn)	SPNS2 (D163N)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 1704252	NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter)	SPNS2 (W302*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 1691123	NM_001124758.3(SPNS2):c.371-2515A>G	SPNS2	Single nucleotide variant (intron variant)	Vascular endothelial growth factor (VEGF) inhibitor response	Gassociation

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