C0795889[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 159904	NM_006517.5(SLC16A2):c.-53A>C	SLC16A2	Single nucleotide variant (5 prime UTR variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 21462	NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)	SLC16A2 (S33P)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome +5 more	GBenign
Select item 212191	NM_006517.5(SLC16A2):c.256del (p.Arg86fs)	SLC16A2 (R86fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 159906	NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)	SLC16A2 (Q93*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 212192	NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)	SLC16A2 (Y125fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 159907	NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)	SLC16A2 (A150E)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 11641	NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)	SLC16A2 (F156del)	Microsatellite (inframe_deletion)	Allan-Herndon-Dudley syndrome +1 more	GPathogenic/Likely pathogenic
Select item 436739	NM_006517.5(SLC16A2):c.532del (p.Ala178fs)	SLC16A2 (A178fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 21460	NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)	SLC16A2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 159900	NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)	SLC16A2 (Q306*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 212186	NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)	SLC16A2 (R314*)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic
Select item 159901	NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)	SLC16A2 (G327R)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 436736	NM_006517.5(SLC16A2):c.1026+1G>T	SLC16A2	Single nucleotide variant (splice donor variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 159902	NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)	SLC16A2 (R371C)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GPathogenic/Likely pathogenic
Select item 212188	NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)	SLC16A2 (I465fs)	Duplication (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 159903	NM_006517.5(SLC16A2):c.1399+43T>G	SLC16A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 212189	NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)	SLC16A2 (V492fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic