ClinVar for MedGen (Select 1814561) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235058	NM_001064.4(TKT):c.181C>T (p.Gln61Ter)	TKT (Q61*)	Single nucleotide variant (nonsense +1 more)	Transketolase deficiency	GLikely pathogenic
Select item 2441997	NM_001064.4(TKT):c.1604T>A (p.Phe535Tyr)	TKT (F535Y +1 more)	Single nucleotide variant (missense variant +1 more)	Transketolase deficiency	GUncertain significance
Select item 2441738	NM_001064.4(TKT):c.1136G>A (p.Arg379His)	TKT (R379H +1 more)	Single nucleotide variant (missense variant +1 more)	Transketolase deficiency	GUncertain significance
Select item 1342218	NM_001064.4(TKT):c.748+17C>T	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 1342217	NM_001064.4(TKT):c.748+39C>G	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 1342216	NM_001064.4(TKT):c.749-15G>A	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 1342215	NM_001064.4(TKT):c.1264+17T>C	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 1342214	NM_001064.4(TKT):c.1265-47G>C	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 1342213	NM_001064.4(TKT):c.1697-49C>T	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 1033727	NM_001064.4(TKT):c.1540G>A (p.Glu514Lys)	LOC126806684, TKT (E522K +1 more)	Single nucleotide variant (missense variant +1 more)	Transketolase deficiency	GUncertain significance
Select item 777965	NM_001064.4(TKT):c.541A>G (p.Ile181Val)	TKT (I189V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 243092	NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG	TKT	Insertion (inframe_indel +1 more)	Transketolase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 223091	NM_001064.4(TKT):c.952C>T (p.Arg318Cys)	TKT (R318C +1 more)	Single nucleotide variant (missense variant +1 more)	Transketolase deficiency	GPathogenic
Select item 223089	NM_001064.4(TKT):c.633G>A (p.Trp211Ter)	TKT (W211* +1 more)	Single nucleotide variant (nonsense +1 more)	Transketolase deficiency	GPathogenic