"Illumina Laboratory Services, Illumina"[submitter] AND "LOC121853040" - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369375	NM_000355.3(TCN2):c.-250C>T	LOC121853040, TCN2	Single nucleotide variant	Transcobalamin II deficiency +1 more	GBenign/Likely benign
Select item 341179	NM_000355.3(TCN2):c.-244C>T	LOC121853040, TCN2	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 899380	NM_000355.3(TCN2):c.-240G>A	LOC121853040, TCN2	Single nucleotide variant	Transcobalamin II deficiency	GUncertain significance
Select item 341180	NM_000355.3(TCN2):c.-215C>T	TCN2, LOC121853040	Single nucleotide variant	Transcobalamin II deficiency	GBenign
Select item 341181	NM_000355.3(TCN2):c.-191G>A	LOC121853040, TCN2	Single nucleotide variant	Transcobalamin II deficiency	GUncertain significance
Select item 341183	NM_000355.3(TCN2):c.-181A>G	LOC121853040, TCN2	Single nucleotide variant	Transcobalamin II deficiency +1 more	GBenign
Select item 341182	NM_000355.3(TCN2):c.-181A>C	LOC121853040, TCN2	Single nucleotide variant	Transcobalamin II deficiency	GUncertain significance
Select item 341184	NM_000355.4(TCN2):c.-153C>G	LOC121853040, TCN2	Single nucleotide variant (5 prime UTR variant)	Transcobalamin II deficiency	GUncertain significance
Select item 341185	NM_000355.4(TCN2):c.-98T>G	LOC121853040, TCN2	Single nucleotide variant (5 prime UTR variant)	Transcobalamin II deficiency	GUncertain significance
Select item 900501	NM_000355.4(TCN2):c.-67C>T	LOC121853040, TCN2	Single nucleotide variant (5 prime UTR variant)	Transcobalamin II deficiency	GUncertain significance
Select item 341186	NM_000355.4(TCN2):c.-34A>G	LOC121853040, TCN2	Single nucleotide variant (5 prime UTR variant)	Transcobalamin II deficiency	GUncertain significance
Select item 900502	NM_000355.4(TCN2):c.-6G>A	LOC121853040, TCN2	Single nucleotide variant (5 prime UTR variant)	Transcobalamin II deficiency	GUncertain significance
Select item 341187	NM_000355.4(TCN2):c.64+11C>T	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GConflicting classifications of pathogenicity