Related gene-specific medical variations for Gene (Select 6540) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065553	NM_016615.5(SLC6A13):c.563+1G>A	SLC6A13	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2690033	NM_016615.5(SLC6A13):c.871G>A (p.Ala291Thr)	SLC6A13 (A199T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548494	NM_016615.5(SLC6A13):c.1424G>A (p.Arg475His)	SLC6A13 (R475H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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