"SLC2A10-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036380	NM_030777.4(SLC2A10):c.-10C>G	SLC2A10	Single nucleotide variant (5 prime UTR variant)	SLC2A10-related disorder	GLikely benign
Select item 1603357	NM_030777.4(SLC2A10):c.162G>C (p.Leu54=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +1 more	GLikely benign
Select item 450591	NM_030777.4(SLC2A10):c.238G>A (p.Gly80Arg)	SLC2A10 (G80R)	Single nucleotide variant (missense variant)	SLC2A10-related disorder +2 more	GUncertain significance
Select item 4588	NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	SLC2A10 (S81R)	Single nucleotide variant (missense variant)	SLC2A10-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2629652	NM_030777.4(SLC2A10):c.300G>A (p.Trp100Ter)	SLC2A10 (W100*)	Single nucleotide variant (nonsense)	SLC2A10-related disorder	GLikely pathogenic
Select item 338591	NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)	SLC2A10	Single nucleotide variant (synonymous variant)	SLC2A10-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 520173	NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +2 more	GConflicting classifications of pathogenicity
Select item 510949	NM_030777.4(SLC2A10):c.504C>T (p.Phe168=)	SLC2A10	Single nucleotide variant (synonymous variant)	Arterial tortuosity syndrome +3 more	GLikely benign
Select item 1147956	NM_030777.4(SLC2A10):c.621C>G (p.Pro207=)	SLC2A10	Single nucleotide variant (synonymous variant)	SLC2A10-related disorder +1 more	GLikely benign
Select item 241605	NM_030777.4(SLC2A10):c.630C>T (p.Gly210=)	SLC2A10	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2561773	NM_030777.4(SLC2A10):c.747C>T (p.Asn249=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 391462	NM_030777.4(SLC2A10):c.792T>C (p.His264=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 3035499	NM_030777.4(SLC2A10):c.954C>T (p.Ser318=)	SLC2A10	Single nucleotide variant (synonymous variant)	SLC2A10-related disorder	GLikely benign
Select item 4587	NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)	SLC2A10 (G445fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic
Select item 2636272	NM_030777.4(SLC2A10):c.1490T>C (p.Val497Ala)	SLC2A10 (V497A)	Single nucleotide variant (missense variant)	SLC2A10-related disorder	GUncertain significance
Select item 467813	NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn)	SLC2A10 (S520N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 213741	NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)	SLC2A10 (R524K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity