SLC2A1-DT[gene] - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 16105	NC_000001.11:g.(?_42925375)_(42959176_?)del	LOC121725020, LOC129930362 +9 more	Deletion	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 1803945	NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)	SLC2A1, SLC2A1-DT (K6*)	Single nucleotide variant (nonsense)	Childhood onset GLUT1 deficiency syndrome 2	GPathogenic
Select item 1686206	NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)	SLC2A1, SLC2A1-DT (M1V)	Single nucleotide variant (missense variant +1 more)	Encephalopathy due to GLUT1 deficiency +1 more	GPathogenic
Select item 297393	NM_006516.2(SLC2A1):c.-424C>G	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	GLUT1 deficiency syndrome +2 more	GConflicting classifications of pathogenicity
Select item 297394	NM_006516.2(SLC2A1):c.-483G>T	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	GLUT1 deficiency syndrome +1 more	GUncertain significance
Select item 297395	NM_006516.2(SLC2A1):c.-490G>C	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	GLUT1 deficiency syndrome +7 more	GBenign
Select item 297396	NM_006516.2(SLC2A1):c.-510G>C	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	GLUT1 deficiency syndrome +1 more	GUncertain significance
Select item 670881	NM_006516.2(SLC2A1):c.-555T>A	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 668835	NM_006516.2(SLC2A1):c.-760C>A	SLC2A1-DT, SLC2A1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1193681	NC_000001.11:g.42959444C>G	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign