"GeneDx"[submitter] AND "TCN2"[gene] - ClinVar

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Items: 64

	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 341183	NM_000355.3(TCN2):c.-181A>G	TCN2, LOC121853040	Single nucleotide variant	not provided +1 more	GBenign
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 1197122	NM_000355.4(TCN2):c.64+72A>G	LOC121853040, TCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291876	NM_000355.4(TCN2):c.64+179A>G	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197918	NM_000355.4(TCN2):c.65-244dup	TCN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1243812	NM_000355.4(TCN2):c.65-156T>G	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1067218	NM_000355.4(TCN2):c.65-1_65delinsTT	TCN2	Indel (splice acceptor variant)	Transcobalamin II deficiency +1 more	GLikely pathogenic
Select item 341188	NM_000355.4(TCN2):c.67A>G (p.Ile23Val)	TCN2 (I23V)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency +1 more	GBenign
Select item 1219991	NM_000355.4(TCN2):c.257+242A>G	TCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269240	NM_000355.4(TCN2):c.258-115A>G	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706727	NM_000355.4(TCN2):c.258-67G>A	TCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 529780	NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)	TCN2 (K99T)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1165417	NM_000355.4(TCN2):c.427+17C>T	TCN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1179882	NM_000355.4(TCN2):c.427+89T>A	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250419	NM_000355.4(TCN2):c.427+149G>A	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237377	NM_000355.4(TCN2):c.428-96G>A	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287252	NM_000355.4(TCN2):c.428-94G>C	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 942477	NM_000355.4(TCN2):c.428-2A>G	TCN2	Single nucleotide variant (splice acceptor variant)	Transcobalamin II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 376919	NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)	TCN2 (L166fs +1 more)	Microsatellite (frameshift variant)	Transcobalamin II deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1279378	NM_000355.4(TCN2):c.580+68C>G	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253875	NM_000355.4(TCN2):c.580+161T>C	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253481	NM_000355.4(TCN2):c.581-291C>T	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283607	NM_000355.4(TCN2):c.581-219G>T	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341199	NM_000355.4(TCN2):c.581-8A>C	TCN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 341200	NM_000355.4(TCN2):c.643C>T (p.Arg215Trp)	TCN2 (R215W +1 more)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency +1 more	GBenign
Select item 1259609	NM_000355.4(TCN2):c.753+45_753+46del	TCN2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1236541	NM_000355.4(TCN2):c.754-31T>C	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency +1 more	GBenign
Select item 97	NM_000355.4(TCN2):c.776G>C (p.Arg259Pro)	TCN2 (R232P +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 489213	NM_000355.4(TCN2):c.871C>T (p.Gln291Ter)	TCN2 (Q291* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 902213	NM_000355.4(TCN2):c.899C>T (p.Thr300Ile)	TCN2 (T273I +1 more)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency +1 more	GUncertain significance
Select item 1291949	NM_000355.4(TCN2):c.940+108A>T	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193327	NM_000355.4(TCN2):c.940+125G>A	TCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224966	NM_000355.4(TCN2):c.940+132C>T	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236737	NM_000355.4(TCN2):c.940+149T>C	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263299	NM_000355.4(TCN2):c.940+239TGGA[5]	TCN2	Microsatellite (intron variant)	not provided	GBenign
Select item 1236369	NM_000355.4(TCN2):c.940+239TGGA[11]	TCN2	Microsatellite (intron variant)	not provided	GBenign
Select item 1227531	NM_000355.4(TCN2):c.940+239TGGA[9]	TCN2	Microsatellite (intron variant)	not provided	GBenign
Select item 1222428	NM_000355.4(TCN2):c.941-21G>A	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency +1 more	GBenign
Select item 341210	NM_000355.4(TCN2):c.1023G>A (p.Pro341=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency +1 more	GBenign/Likely benign
Select item 341211	NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe)	TCN2 (S348F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1275498	NM_000355.4(TCN2):c.1106+67G>A	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186216	NM_000355.4(TCN2):c.1106+307C>T	TCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227845	NM_000355.4(TCN2):c.1107-309C>T	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246097	NM_000355.4(TCN2):c.1107-178G>A	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267520	NM_000355.4(TCN2):c.1107-138C>T	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236900	NM_000355.4(TCN2):c.1107-71G>C	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341214	NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser)	TCN2 (L376S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 341215	NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln)	TCN2 (R399Q +1 more)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency +2 more	GBenign
Select item 1260868	NM_000355.4(TCN2):c.1222+164_1222+165insC	TCN2	Insertion (intron variant)	not provided	GBenign
Select item 1243881	NM_000355.4(TCN2):c.1222+165_1222+166insC	TCN2	Insertion (intron variant)	not provided	GBenign
Select item 1228909	NM_000355.4(TCN2):c.1222+165A>C	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707215	NM_000355.4(TCN2):c.1222+228dup	TCN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1279304	NM_000355.4(TCN2):c.1222+228del	TCN2	Deletion (intron variant)	not provided	GBenign
Select item 1177774	NM_000355.4(TCN2):c.1223-185G>T	TCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243281	NM_000355.4(TCN2):c.1223-175G>A	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183505	NM_000355.4(TCN2):c.1223-168T>C	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283563	NM_000355.4(TCN2):c.1223-146G>A	TCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341216	NM_000355.4(TCN2):c.*29C>A	TCN2	Single nucleotide variant (3 prime UTR variant)	Transcobalamin II deficiency +1 more	GBenign/Likely benign
Select item 341217	NM_000355.4(TCN2):c.*82C>T	TCN2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 341219	NM_000355.4(TCN2):c.*127C>T	TCN2	Single nucleotide variant (3 prime UTR variant)	Transcobalamin II deficiency +1 more	GBenign
Select item 341221	NM_000355.4(TCN2):c.*225A>T	TCN2	Single nucleotide variant (3 prime UTR variant)	Transcobalamin II deficiency +1 more	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 64