Related gene-specific medical variations for Gene (Select 6948) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247402	NC_000022.10:g.(?_31003319)_(31022508_?)dup	TCN2	Duplication	Transcobalamin II deficiency	GUncertain significance
Select item 3247391	NC_000022.10:g.(?_31010316)_(31013502_?)del	TCN2	Deletion	Transcobalamin II deficiency	GPathogenic
Select item 3247380	NC_000022.10:g.(?_31008840)_(31019090_?)del	TCN2	Deletion	Transcobalamin II deficiency	GPathogenic
Select item 3247369	NC_000022.10:g.(?_31018935)_(31019090_?)del	TCN2	Deletion	Transcobalamin II deficiency	GPathogenic
Select item 3247358	NC_000022.10:g.(?_31003319)_(31003402_?)del	TCN2	Deletion	Transcobalamin II deficiency	GPathogenic
Select item 3008074	NM_000355.4(TCN2):c.21C>T (p.Phe7=)	LOC121853040, TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3005005	NM_000355.4(TCN2):c.64+12G>A	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2979422	NM_000355.4(TCN2):c.18C>T (p.Ala6=)	LOC121853040, TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2880598	NM_000355.4(TCN2):c.64+9C>T	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2872880	NM_000355.4(TCN2):c.33G>A (p.Leu11=)	LOC121853040, TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2865232	NM_000355.4(TCN2):c.27C>T (p.Phe9=)	LOC121853040, TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2831882	NM_000355.4(TCN2):c.64+15T>C	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2825805	NM_000355.4(TCN2):c.64+20C>T	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2821533	NM_000355.4(TCN2):c.64+19T>A	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2821181	NM_000355.4(TCN2):c.24C>G (p.Leu8=)	LOC121853040, TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2817868	NM_000355.4(TCN2):c.57G>A (p.Glu19=)	LOC121853040, TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2796652	NM_000355.4(TCN2):c.38del (p.Val13fs)	LOC121853040, TCN2 (V13fs)	Deletion (frameshift variant)	Transcobalamin II deficiency	GPathogenic
Select item 2794053	NM_000355.4(TCN2):c.54T>C (p.Thr18=)	LOC121853040, TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2501789	NM_000355.4(TCN2):c.64+4A>T	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GUncertain significance
Select item 2104305	NM_000355.4(TCN2):c.32T>C (p.Leu11Pro)	LOC121853040, TCN2 (L11P)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency	GUncertain significance
Select item 2092835	NM_000355.4(TCN2):c.64+18A>G	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2069600	NM_000355.4(TCN2):c.64+14C>T	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2008968	NM_000355.4(TCN2):c.19T>C (p.Phe7Leu)	LOC121853040, TCN2 (F7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1989833	NM_000355.4(TCN2):c.44G>A (p.Gly15Glu)	LOC121853040, TCN2 (G15E)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency	GUncertain significance
Select item 1707984	NM_000355.4(TCN2):c.59T>C (p.Met20Thr)	LOC121853040, TCN2 (M20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645270	NM_000355.4(TCN2):c.64+16C>G	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 1529806	NM_000355.4(TCN2):c.64+13C>T	LOC121853040, TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 1424570	NM_000355.4(TCN2):c.49C>G (p.Leu17Val)	LOC121853040, TCN2 (L17V)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency	GUncertain significance
Select item 1390776	NM_000355.4(TCN2):c.31C>G (p.Leu11Val)	LOC121853040, TCN2 (L11V)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency	GUncertain significance
Select item 1373496	NM_000355.4(TCN2):c.17C>A (p.Ala6Asp)	LOC121853040, TCN2 (A6D)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency	GUncertain significance
Select item 1365891	NM_000355.4(TCN2):c.46_47delinsTT (p.Ala16Phe)	LOC121853040, TCN2 (A16F)	Indel (missense variant)	Transcobalamin II deficiency	GUncertain significance
Select item 1197122	NM_000355.4(TCN2):c.64+72A>G	LOC121853040, TCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184573	NM_000355.4(TCN2):c.172del (p.Leu58fs)	TCN2 (L58fs)	Deletion (frameshift variant)	Transcobalamin II deficiency	GPathogenic
Select item 1146214	NM_000355.4(TCN2):c.30T>A (p.Leu10=)	LOC121853040, TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 961649	NM_000355.4(TCN2):c.9C>G (p.His3Gln)	LOC121853040, TCN2 (H3Q)	Single nucleotide variant (missense 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 900501	NM_000355.4(TCN2):c.-67C>T	LOC121853040, TCN2	Single nucleotide variant (5 prime UTR variant)	Transcobalamin II deficiency	GUncertain significance
Select item 618418	NM_000355.4(TCN2):c.495T>C (p.Cys165=)	TCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618417	NM_000355.4(TCN2):c.10C>T (p.Leu4Phe)	LOC121853040, TCN2 (L4F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440325	NM_000355.4(TCN2):c.407A>G (p.Glu136Gly)	TCN2 (E136G)	Single nucleotide variant (missense variant +1 more)	not provided	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
Select item 341186	NM_000355.4(TCN2):c.-34A>G	LOC121853040, TCN2	Single nucleotide variant (5 prime UTR variant)	Transcobalamin II deficiency +1 more	GUncertain significance
Select item 341185	NM_000355.4(TCN2):c.-98T>G	LOC121853040, TCN2	Single nucleotide variant (5 prime UTR variant)	Transcobalamin II deficiency +1 more	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 208183	NM_000355.4(TCN2):c.626C>G (p.Ser209Ter)	TCN2 (S209* +1 more)	Single nucleotide variant (nonsense)	Transcobalamin II deficiency	Gnot provided

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Links from Gene

Items: 45