Related gene-specific medical variations for Gene (Select 27010) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2504079	NM_022445.4(TPK1):c.224T>A (p.Ile75Asn)	TPK1 (I70N +1 more)	Single nucleotide variant (intron variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely pathogenic
Select item 2437196	NM_022445.4(TPK1):c.593C>T (p.Thr198Ile)	TPK1 (T149I +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 2437195	NM_022445.4(TPK1):c.20C>T (p.Pro7Leu)	TPK1 (P7L)	Single nucleotide variant (missense variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GUncertain significance
Select item 1527407	GRCh37/hg19 7q35(chr7:144274662-144330956)	TPK1	Copy number loss	not specified	GUncertain significance
Select item 1261764	NC_000007.14:g.144836196C>T	LOC129999528, TPK1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1181866	NM_022445.4(TPK1):c.-17+111C>T	TPK1, LOC129999527	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 979803	GRCh37/hg19 7q35(chr7:144432919-145084588)x1	TPK1	Copy number loss	not provided	GUncertain significance
Select item 979801	GRCh37/hg19 7q35(chr7:144204964-144617768)x1	TPK1	Copy number loss	not provided	GUncertain significance
Select item 972917	NM_022445.4(TPK1):c.382C>T (p.Leu128Phe)	TPK1 (L123F +3 more)	Single nucleotide variant (missense variant +2 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GConflicting classifications of pathogenicity
Select item 972916	NM_022445.4(TPK1):c.19C>T (p.Pro7Ser)	TPK1 (P7S)	Single nucleotide variant (missense variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	GLikely pathogenic
Select item 689063	GRCh37/hg19 7q35(chr7:144319985-144446894)x1	TPK1	Copy number loss	not provided	GPathogenic
Select item 687273	GRCh37/hg19 7q35(chr7:144272015-144331634)x1	TPK1	Copy number loss	not provided	GPathogenic
Select item 686732	GRCh37/hg19 7q35(chr7:144318728-144425718)x1	TPK1	Copy number loss	not provided	GPathogenic
Select item 686209	GRCh37/hg19 7q35(chr7:144274734-144331634)x1	TPK1	Copy number loss	not provided	GPathogenic
Select item 563360	GRCh37/hg19 7q35(chr7:144430496-144922850)x3	TPK1	Copy number gain	not provided	GUncertain significance