C1859726[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139170	NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser)	SLC2A10 (A106S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 4585	NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)	SLC2A10 (W170*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 241606	NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)	SLC2A10 (R225H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 213717	NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)	SLC2A10	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 139173	NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)	SLC2A10	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 139175	NM_030777.4(SLC2A10):c.1288+10G>A	SLC2A10	Single nucleotide variant (intron variant)	Arterial tortuosity syndrome +2 more	GBenign/Likely benign
Select item 139176	NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)	SLC2A10	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 139178	NM_030777.4(SLC2A10):c.1547+18T>G	SLC2A10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign