"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC6A20"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 902461	NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys)	SLC6A20 (R582C +1 more)	Single nucleotide variant (missense variant)	Iminoglycinuria +2 more	GUncertain significance
Select item 345394	NM_020208.4(SLC6A20):c.1742G>A (p.Arg581His)	SLC6A20 (R581H +1 more)	Single nucleotide variant (missense variant)	Hyperglycinuria +2 more	GConflicting classifications of pathogenicity
Select item 903323	NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg)	SLC6A20 (K549R +1 more)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 1050543	NM_020208.4(SLC6A20):c.1601T>G (p.Leu534Arg)	SLC6A20 (L497R +2 more)	Single nucleotide variant (missense variant)	Iminoglycinuria +1 more	GUncertain significance
Select item 631921	NM_020208.4(SLC6A20):c.1098+2T>C	SLC6A20	Single nucleotide variant (splice donor variant)	Iminoglycinuria +1 more	GUncertain significance
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 345406	NM_020208.4(SLC6A20):c.1051A>C (p.Met351Leu)	SLC6A20 (M351L +1 more)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 900867	NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 902539	NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys)	SLC6A20 (N222K)	Single nucleotide variant (missense variant +1 more)	Iminoglycinuria +1 more	GUncertain significance
Select item 345414	NM_020208.4(SLC6A20):c.615C>T (p.Cys205=)	SLC6A20	Single nucleotide variant (synonymous variant +1 more)	Hyperglycinuria +1 more	GUncertain significance
Select item 345418	NM_020208.4(SLC6A20):c.512C>T (p.Ala171Val)	SLC6A20 (A171V)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 903393	NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu)	SLC6A20 (P158L)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 903394	NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met)	SLC6A20 (T133M)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 632416	NM_020208.4(SLC6A20):c.354+2T>A	SLC6A20	Single nucleotide variant (splice donor variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 345424	NM_020208.4(SLC6A20):c.268G>A (p.Ala90Thr)	SLC6A20 (A90T)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	GUncertain significance
Select item 345425	NM_020208.4(SLC6A20):c.262+4C>T	SLC6A20	Single nucleotide variant (intron variant)	Iminoglycinuria +1 more	GUncertain significance
Select item 900938	NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp)	SLC6A20 (N27D)	Single nucleotide variant (missense variant)	Iminoglycinuria +1 more	GUncertain significance
Select item 900939	NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro)	SLC6A20 (L25P)	Single nucleotide variant (missense variant)	Iminoglycinuria +1 more	GUncertain significance
Select item 1049972	NM_020208.4(SLC6A20):c.1A>G (p.Met1Val)	SLC6A20 (M1V)	Single nucleotide variant (missense variant +1 more)	Iminoglycinuria +1 more	GUncertain significance