"GeneDx"[submitter] AND "SLC6A20"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224268	NM_020208.4(SLC6A20):c.1464-44G>A	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227515	NM_020208.4(SLC6A20):c.1464-212G>A	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345399	NM_020208.4(SLC6A20):c.1463+14G>A	SLC6A20	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1244873	NM_020208.4(SLC6A20):c.1304-170G>A	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247102	NM_020208.4(SLC6A20):c.1304-207C>A	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238109	NM_020208.4(SLC6A20):c.936-101T>C	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294944	NM_020208.4(SLC6A20):c.935+236T>C	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271369	NM_020208.4(SLC6A20):c.935+195C>T	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268730	NM_020208.4(SLC6A20):c.935+59G>T	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231744	NM_020208.4(SLC6A20):c.935+59G>A	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345408	NM_020208.4(SLC6A20):c.858C>T (p.Thr286=)	SLC6A20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1294946	NM_020208.4(SLC6A20):c.694-75T>C	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291674	NM_020208.4(SLC6A20):c.693+196T>G	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345411	NM_020208.4(SLC6A20):c.693+4C>T	SLC6A20	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 4845	NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met)	SLC6A20 (T199M)	Single nucleotide variant (missense variant +1 more)	Hyperglycinuria +1 more	GBenign
Select item 1236428	NM_020208.4(SLC6A20):c.583-196A>G	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345419	NM_020208.4(SLC6A20):c.507G>A (p.Glu169=)	SLC6A20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 345420	NM_020208.4(SLC6A20):c.417T>C (p.Cys139=)	SLC6A20	Single nucleotide variant (synonymous variant)	Hyperglycinuria +1 more	GBenign
Select item 345423	NM_020208.4(SLC6A20):c.282C>G (p.Val94=)	SLC6A20	Single nucleotide variant (synonymous variant)	Hyperglycinuria +1 more	GBenign
Select item 1227573	NM_020208.4(SLC6A20):c.263-32A>G	SLC6A20	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1277261	NM_020208.4(SLC6A20):c.263-95G>A	SLC6A20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345428	NM_020208.4(SLC6A20):c.26C>G (p.Ala9Gly)	SLC6A20 (A9G)	Single nucleotide variant (missense variant)	Hyperglycinuria +1 more	GBenign
Select item 345434	NM_020208.4(SLC6A20):c.-102C>A	SLC6A20	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1264670	NC_000003.12:g.45796686C>T	SLC6A20	Single nucleotide variant	not provided	GBenign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 25