ClinVar for MedGen (Select 137976) - ClinVar - NCBI

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	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 3023890	NM_000355.4(TCN2):c.1107-6C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 3023663	NM_000355.4(TCN2):c.581-20G>A	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 3023403	NM_000355.4(TCN2):c.325C>T (p.Leu109=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3019454	NM_000355.4(TCN2):c.1251A>C (p.Gly417=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3019407	NM_000355.4(TCN2):c.525G>C (p.Val175=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3019266	NM_000355.4(TCN2):c.540G>A (p.Leu180=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3016975	NM_000355.4(TCN2):c.428-5C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 3016354	NM_000355.4(TCN2):c.891C>T (p.Asn297=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3014890	NM_000355.4(TCN2):c.582C>T (p.Asp194=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3014370	NM_000355.4(TCN2):c.88C>T (p.Leu30=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3014356	NM_000355.4(TCN2):c.257+12C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 3013165	NM_000355.4(TCN2):c.1048C>T (p.Leu350=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3011184	NM_000355.4(TCN2):c.1065G>A (p.Val355=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3008292	NM_000355.4(TCN2):c.981A>G (p.Gln327=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
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 3007981	NM_000355.4(TCN2):c.1134C>T (p.Gly378=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3007968	NM_000355.4(TCN2):c.912G>C (p.Leu304=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 3007235	NM_000355.4(TCN2):c.423C>T (p.Ala141=)	TCN2	Single nucleotide variant (synonymous variant +1 more)	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 3004737	NM_000355.4(TCN2):c.753+9G>A	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 3003507	NM_000355.4(TCN2):c.754-9dup	TCN2	Duplication (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 3000646	NM_000355.4(TCN2):c.427+9A>G	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2999311	NM_000355.4(TCN2):c.822G>A (p.Leu274=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2998905	NM_000355.4(TCN2):c.1075C>T (p.Leu359=)	TCN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2998635	NM_000355.4(TCN2):c.342C>T (p.Ala114=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2995003	NM_000355.4(TCN2):c.258-11C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2994644	NM_000355.4(TCN2):c.65-7T>C	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2989545	NM_000355.4(TCN2):c.428-4_428-3del	TCN2	Microsatellite (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2988798	NM_000355.4(TCN2):c.1223-6C>A	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2985920	NM_000355.4(TCN2):c.108G>A (p.Gln36=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2984746	NM_000355.4(TCN2):c.441G>A (p.Lys147=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2984628	NM_000355.4(TCN2):c.754-12C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2984021	NM_000355.4(TCN2):c.910C>T (p.Leu304=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2982426	NM_000355.4(TCN2):c.1033C>T (p.Gln345Ter)	TCN2 (Q345* +1 more)	Single nucleotide variant (nonsense)	Transcobalamin II deficiency	GPathogenic
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 2978217	NM_000355.4(TCN2):c.754-18T>C	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2976758	NM_000355.4(TCN2):c.648A>G (p.Arg216=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2971775	NM_000355.4(TCN2):c.1223-18C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2968909	NM_000355.4(TCN2):c.729C>T (p.Val243=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2965969	NM_000355.4(TCN2):c.327G>A (p.Leu109=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2963640	NM_000355.4(TCN2):c.345C>T (p.Asn115=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2962553	NM_000355.4(TCN2):c.285C>T (p.Asp95=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2960543	NM_000355.4(TCN2):c.756C>T (p.Phe252=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2957878	NM_000355.4(TCN2):c.1026G>A (p.Pro342=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2920460	NM_000355.4(TCN2):c.428-19_428-18del	TCN2	Microsatellite (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2918186	NM_000355.4(TCN2):c.759C>T (p.Leu253=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2917933	NM_000355.4(TCN2):c.1223-20T>C	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2903683	NM_000355.4(TCN2):c.742T>C (p.Leu248=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2901943	NM_000355.4(TCN2):c.941-4A>G	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2897024	NM_000355.4(TCN2):c.324C>G (p.Tyr108Ter)	TCN2 (Y108*)	Single nucleotide variant (nonsense)	Transcobalamin II deficiency	GPathogenic
Select item 2891990	NM_000355.4(TCN2):c.882C>A (p.Pro294=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2891924	NM_000355.4(TCN2):c.1038C>T (p.Ser346=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2891030	NM_000355.4(TCN2):c.466C>T (p.Gln156Ter)	TCN2 (Q129* +1 more)	Single nucleotide variant (nonsense)	Transcobalamin II deficiency	GPathogenic
Select item 2890361	NM_000355.4(TCN2):c.754-11T>A	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2889393	NM_000355.4(TCN2):c.1223-6C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2885814	NM_000355.4(TCN2):c.741A>G (p.Pro247=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2885764	NM_000355.4(TCN2):c.511G>A (p.Val171Ile)	TCN2 (V171I +1 more)	Single nucleotide variant (missense variant)	Transcobalamin II deficiency	GUncertain significance
Select item 2885230	NM_000355.4(TCN2):c.428-9C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2883447	NM_000355.4(TCN2):c.754-8_754-7del	TCN2	Deletion (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2883377	NM_000355.4(TCN2):c.754-8A>G	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2882733	NM_000355.4(TCN2):c.201C>G (p.Thr67=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2880826	NM_000355.4(TCN2):c.1106+10C>T	TCN2	Single nucleotide variant (intron 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 2879317	NM_000355.4(TCN2):c.1106+13_1106+19del	TCN2	Deletion (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2879262	NM_000355.4(TCN2):c.153C>T (p.Asn51=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2877808	NM_000355.4(TCN2):c.258-1G>A	TCN2	Single nucleotide variant (splice acceptor variant)	Transcobalamin II deficiency	GLikely pathogenic
Select item 2876620	NM_000355.4(TCN2):c.428-5C>G	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2873534	NM_000355.4(TCN2):c.267C>T (p.Phe89=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2873115	NM_000355.4(TCN2):c.754-17C>T	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 2870957	NM_000355.4(TCN2):c.258-11C>G	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2870949	NM_000355.4(TCN2):c.708C>G (p.Pro236=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2869558	NM_000355.4(TCN2):c.581-15G>A	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2869358	NM_000355.4(TCN2):c.171C>A (p.Gly57=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2869049	NM_000355.4(TCN2):c.350_351insAC (p.Phe118fs)	TCN2 (F118fs)	Insertion (frameshift variant +1 more)	Transcobalamin II deficiency	GPathogenic
Select item 2868555	NM_000355.4(TCN2):c.675A>G (p.Thr225=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2867716	NM_000355.4(TCN2):c.861C>T (p.Leu287=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2866923	NM_000355.4(TCN2):c.660C>T (p.Thr220=)	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 2863397	NM_000355.4(TCN2):c.312G>A (p.Gln104=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2861108	NM_000355.4(TCN2):c.885T>C (p.Val295=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2859580	NM_000355.4(TCN2):c.257+10C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2851727	NM_000355.4(TCN2):c.156C>T (p.Pro52=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2851360	NM_000355.4(TCN2):c.134_155del (p.Leu45fs)	TCN2 (L45fs)	Deletion (frameshift variant)	Transcobalamin II deficiency	GPathogenic
Select item 2849099	NM_000355.4(TCN2):c.257+7C>T	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2848667	NM_000355.4(TCN2):c.1223-18C>G	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2848563	NM_000355.4(TCN2):c.427+7A>G	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2847829	NM_000355.4(TCN2):c.616C>T (p.Leu206=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2846830	NM_000355.4(TCN2):c.474C>G (p.Gly158=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2846041	NM_000355.4(TCN2):c.258-8_258-6dup	TCN2	Duplication (intron variant)	Transcobalamin II deficiency	GUncertain significance
Select item 2845351	NM_000355.4(TCN2):c.1222+11G>A	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign
Select item 2844837	NM_000355.4(TCN2):c.463dup (p.Tyr155fs)	TCN2 (Y155fs +1 more)	Duplication (frameshift variant)	Transcobalamin II deficiency	GPathogenic
Select item 2843082	NM_000355.4(TCN2):c.1000C>T (p.Leu334=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2842806	NM_000355.4(TCN2):c.177C>G (p.Arg59=)	TCN2	Single nucleotide variant (synonymous variant)	Transcobalamin II deficiency	GLikely benign
Select item 2841523	NM_000355.4(TCN2):c.1107-18T>C	TCN2	Single nucleotide variant (intron variant)	Transcobalamin II deficiency	GLikely benign

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