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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	TCN2, LOC121853040	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)	Transcobalamin II deficiency	GUncertain significance
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	TCN2, LOC121853040	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)	TCN2, LOC121853040 (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=)	TCN2, LOC121853040	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 961649	NM_000355.4(TCN2):c.9C>G (p.His3Gln)	TCN2, LOC121853040 (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)	Transcobalamin II deficiency +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	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 40