Related gene-specific medical variations for Gene (Select 153201) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2871450	NM_181776.3(SLC36A2):c.34G>C (p.Gly12Arg)	SLC36A1, SLC36A2 (G12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791488	NM_181776.3(SLC36A2):c.160A>G (p.Ile54Val)	SLC36A1, SLC36A2 (I54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788487	NM_181776.3(SLC36A2):c.80C>T (p.Ala27Val)	SLC36A1, SLC36A2 (A27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713208	NM_181776.3(SLC36A2):c.138A>C (p.Ala46=)	SLC36A1, SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2436023	NM_181776.3(SLC36A2):c.793_794dup (p.Pro266fs)	SLC36A2 (P266fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2052777	NM_181776.3(SLC36A2):c.146AGA[1] (p.Lys50del)	SLC36A1, SLC36A2 (K50del)	Microsatellite (inframe_deletion)	SLC36A2-related condition +1 more	GLikely benign
Select item 2002810	NM_181776.3(SLC36A2):c.62T>C (p.Met21Thr)	SLC36A1, SLC36A2 (M21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287839	NM_181776.3(SLC36A2):c.153C>T (p.Thr51=)	SLC36A2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 789584	NM_181776.3(SLC36A2):c.76A>G (p.Ser26Gly)	SLC36A1, SLC36A2 (S26G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 788292	NM_181776.3(SLC36A2):c.147G>A (p.Lys49=)	SLC36A1, SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2385	NM_181776.3(SLC36A2):c.164+1G>A	SLC36A1, SLC36A2	Single nucleotide variant (splice donor variant)	Hyperglycinuria +1 more	GAffects