Related gene-specific medical variations for Gene (Select 153562) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433645	NM_001038603.3(MARVELD2):c.1554+286T>C	MARVELD2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 995179	NM_001038603.3(MARVELD2):c.54A>T (p.Pro18=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 995178	NM_001038603.3(MARVELD2):c.476A>G (p.Tyr159Cys)	MARVELD2 (Y159C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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