"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC6A20"[ - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057363	NM_020208.4(SLC6A20):c.1446C>T (p.Tyr482=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	SLC6A20-related disorder	GLikely benign
Select item 345403	NM_020208.4(SLC6A20):c.1092A>T (p.Leu364=)	SLC6A20	Single nucleotide variant (synonymous variant)	Hyperglycinuria +2 more	GLikely benign
Select item 899716	NM_020208.4(SLC6A20):c.1058C>T (p.Pro353Leu)	SLC6A20 (P316L +1 more)	Single nucleotide variant (missense variant)	SLC6A20-related disorder +1 more	GBenign/Likely benign
Select item 345408	NM_020208.4(SLC6A20):c.858C>T (p.Thr286=)	SLC6A20	Single nucleotide variant (synonymous variant)	Hyperglycinuria +2 more	GBenign
Select item 3039883	NM_020208.4(SLC6A20):c.780C>A (p.Ile260=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	SLC6A20-related disorder	GLikely benign
Select item 4845	NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met)	SLC6A20 (T199M)	Single nucleotide variant (missense variant +1 more)	Hyperglycinuria +2 more	GBenign
Select item 902540	NM_020208.4(SLC6A20):c.594C>T (p.Phe198=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	SLC6A20-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3046091	NM_020208.4(SLC6A20):c.489C>T (p.Asn163=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	SLC6A20-related disorder	GLikely benign
Select item 3049008	NM_020208.4(SLC6A20):c.421A>G (p.Lys141Glu)	SLC6A20 (K141E +1 more)	Single nucleotide variant (missense variant +1 more)	SLC6A20-related disorder	GBenign
Select item 345420	NM_020208.4(SLC6A20):c.417T>C (p.Cys139=)	SLC6A20	Single nucleotide variant (synonymous variant)	Hyperglycinuria +2 more	GBenign
Select item 345422	NM_020208.4(SLC6A20):c.354+7C>T	SLC6A20	Single nucleotide variant (intron variant)	Hyperglycinuria +1 more	GConflicting classifications of pathogenicity
Select item 3033112	NM_020208.4(SLC6A20):c.318C>T (p.Asn106=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	SLC6A20-related disorder	GLikely benign
Select item 3050868	NM_020208.4(SLC6A20):c.297C>A (p.Ser99=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	SLC6A20-related disorder	GLikely benign
Select item 899780	NM_020208.4(SLC6A20):c.147C>T (p.Ile49=)	SLC6A20	Single nucleotide variant (synonymous variant)	SLC6A20-related disorder +1 more	GBenign/Likely benign
Select item 345428	NM_020208.4(SLC6A20):c.26C>G (p.Ala9Gly)	SLC6A20 (A9G)	Single nucleotide variant (missense variant)	Hyperglycinuria +2 more	GBenign