Related gene-specific medical variations for Gene (Select 23383) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549626	NM_015329.4(MAU2):c.968T>G (p.Leu323Arg)	LOC130064058, MAU2 (L323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529638	NM_015329.4(MAU2):c.277T>C (p.Trp93Arg)	LOC126862880, MAU2 (W93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429952	NM_015329.4(MAU2):c.744C>G (p.Ser248Arg)	MAU2 (S248R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign

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