"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21462	NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)	SLC16A2 (S33P)	Single nucleotide variant (missense variant)	Spastic paraplegia +5 more	GBenign
Select item 697076	NM_006517.5(SLC16A2):c.111T>A (p.Pro37=)	SLC16A2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 193348	NM_006517.5(SLC16A2):c.123C>T (p.Pro41=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 95421	NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)	SLC16A2 (Q138E)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 21460	NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)	SLC16A2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 159902	NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)	SLC16A2 (R371C)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1344030	NM_006517.5(SLC16A2):c.1231G>A (p.Gly411Arg)	SLC16A2 (G411R)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1344031	NM_006517.5(SLC16A2):c.1430A>G (p.His477Arg)	SLC16A2 (H477R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 167692	NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)	SLC16A2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity