Related gene-specific medical variations for Gene (Select 126862918) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163275	NM_005628.3(SLC1A5):c.620C>T (p.Thr207Ile)	LOC126862918, SLC1A5 (T207I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2508115	NM_005628.3(SLC1A5):c.577C>T (p.Pro193Ser)	LOC126862918, SLC1A5 (P193S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1225629	NM_005628.3(SLC1A5):c.610-4A>G	LOC126862918, SLC1A5	Single nucleotide variant (intron variant)	not provided	GBenign

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