ClinVar for MedGen (Select 90993) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2998362	NM_001062.4(TCN1):c.210C>G (p.Thr70=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2987380	NM_001062.4(TCN1):c.79+16G>A	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 2918494	NM_001062.4(TCN1):c.524_530del (p.Lys175fs)	TCN1 (K175fs)	Deletion (frameshift variant)	Transcobalamin I deficiency	GPathogenic
Select item 2905355	NM_001062.4(TCN1):c.1122-19T>C	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 2895301	NM_001062.4(TCN1):c.435C>T (p.Tyr145=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2866469	NM_001062.4(TCN1):c.414C>G (p.Gly138=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2826077	NM_001062.4(TCN1):c.259+11del	TCN1	Deletion (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 2761519	NM_001062.4(TCN1):c.54T>A (p.Ile18=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2761255	NM_001062.4(TCN1):c.622A>G (p.Lys208Glu)	TCN1 (K208E)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 2745906	NM_001062.4(TCN1):c.82del (p.Glu27_Val28insTer)	TCN1	Deletion (nonsense)	Transcobalamin I deficiency	GPathogenic
Select item 2742360	NM_001062.4(TCN1):c.596AGA[1] (p.Lys200del)	TCN1 (K200del)	Microsatellite (inframe_deletion)	Transcobalamin I deficiency	GUncertain significance
Select item 2736030	NM_001062.4(TCN1):c.276G>A (p.Ser92=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2731269	NM_001062.4(TCN1):c.401-15T>G	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 2723886	NM_001062.4(TCN1):c.180C>T (p.Ser60=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2418502	NM_001062.4(TCN1):c.587C>T (p.Thr196Ile)	TCN1 (T196I)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 2278839	NM_001062.4(TCN1):c.173T>C (p.Val58Ala)	TCN1 (V58A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2199126	NM_001062.4(TCN1):c.660T>C (p.Tyr220=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2196289	NM_001062.4(TCN1):c.1229C>G (p.Pro410Arg)	TCN1 (P410R)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GLikely benign
Select item 2182723	NM_001062.4(TCN1):c.166A>T (p.Asn56Tyr)	TCN1 (N56Y)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 2173218	NM_001062.4(TCN1):c.300G>A (p.Leu100=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2155641	NM_001062.4(TCN1):c.275C>T (p.Ser92Leu)	TCN1 (S92L)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency +1 more	GUncertain significance
Select item 2147971	NM_001062.4(TCN1):c.1241-16T>G	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 2142660	NM_001062.4(TCN1):c.160G>A (p.Ala54Thr)	TCN1 (A54T)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 2124313	NM_001062.4(TCN1):c.1071C>A (p.Val357=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2098662	NM_001062.4(TCN1):c.1171G>T (p.Gly391Cys)	TCN1 (G391C)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 2095875	NM_001062.4(TCN1):c.1015T>G (p.Ser339Ala)	TCN1 (S339A)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 2072468	NM_001062.4(TCN1):c.1232T>C (p.Leu411Pro)	TCN1 (L411P)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 2067695	NM_001062.4(TCN1):c.9G>T (p.Gln3His)	TCN1 (Q3H)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 2062426	NM_001062.4(TCN1):c.1286G>A (p.Arg429His)	TCN1 (R429H)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency +1 more	GUncertain significance
Select item 2059224	NM_001062.4(TCN1):c.662C>T (p.Thr221Ile)	TCN1 (T221I)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 2056311	NM_001062.4(TCN1):c.1173C>T (p.Gly391=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 2025451	NM_001062.4(TCN1):c.937+17G>T	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 1990761	NM_001062.4(TCN1):c.260-15T>C	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 1990056	NM_001062.4(TCN1):c.21G>T (p.Leu7=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1951550	NM_001062.4(TCN1):c.909C>T (p.Asn303=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1939543	NM_001062.4(TCN1):c.614G>A (p.Gly205Glu)	TCN1 (G205E)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1925994	NM_001062.4(TCN1):c.79+17C>A	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 1923303	NM_001062.4(TCN1):c.80-6C>T	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 1908860	NM_001062.4(TCN1):c.648C>T (p.Asn216=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1715456	NM_001062.4(TCN1):c.128T>C (p.Met43Thr)	TCN1 (M43T)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1672045	NM_001062.4(TCN1):c.1005C>T (p.Ser335=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1670580	NM_001062.4(TCN1):c.450C>T (p.Asp150=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1662167	NM_001062.4(TCN1):c.879C>T (p.Ala293=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1659496	NM_001062.4(TCN1):c.1221A>C (p.Gly407=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency +1 more	GBenign/Likely benign
Select item 1630780	NM_001062.4(TCN1):c.159C>T (p.Ser53=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1623688	NM_001062.4(TCN1):c.357C>T (p.Ile119=)	TCN1	Single nucleotide variant (synonymous variant)	TCN1-related condition +1 more	GLikely benign
Select item 1615811	NM_001062.4(TCN1):c.1122-16T>G	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 1609611	NM_001062.4(TCN1):c.951C>A (p.Ile317=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1597613	NM_001062.4(TCN1):c.924C>T (p.Cys308=)	TCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1593276	NM_001062.4(TCN1):c.489C>G (p.Thr163=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1592100	NM_001062.4(TCN1):c.492C>T (p.Ala164=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1591516	NM_001062.4(TCN1):c.99C>T (p.Tyr33=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1587586	NM_001062.4(TCN1):c.1181C>A (p.Ala394Asp)	TCN1 (A394D)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GLikely benign
Select item 1587546	NM_001062.4(TCN1):c.1241-9C>T	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 1525440	NM_001062.4(TCN1):c.214A>T (p.Met72Leu)	TCN1 (M72L)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1511533	NM_001062.4(TCN1):c.730A>G (p.Thr244Ala)	TCN1 (T244A)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1459208	NM_001062.4(TCN1):c.69C>A (p.Cys23Ter)	TCN1 (C23*)	Single nucleotide variant (nonsense)	Transcobalamin I deficiency	GPathogenic
Select item 1432371	NM_001062.4(TCN1):c.473A>G (p.Asn158Ser)	TCN1 (N158S)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1424205	NM_001062.4(TCN1):c.112C>A (p.Pro38Thr)	TCN1 (P38T)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1406523	NM_001062.4(TCN1):c.597G>T (p.Lys199Asn)	TCN1 (K199N)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1387853	NM_001062.4(TCN1):c.557A>C (p.Asp186Ala)	TCN1 (D186A)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1386775	NM_001062.4(TCN1):c.542G>A (p.Ser181Asn)	TCN1 (S181N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1385555	NM_001062.4(TCN1):c.322G>A (p.Ala108Thr)	TCN1 (A108T)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1346260	NM_001062.4(TCN1):c.623A>G (p.Lys208Arg)	TCN1 (K208R)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1170817	NM_001062.4(TCN1):c.489C>T (p.Thr163=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GBenign
Select item 1167704	NM_001062.4(TCN1):c.1114A>G (p.Ile372Val)	TCN1 (I372V)	Single nucleotide variant (missense variant)	TCN1-related condition +1 more	GBenign
Select item 1167144	NM_001062.4(TCN1):c.846C>T (p.Ser282=)	TCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1150391	NM_001062.4(TCN1):c.750C>G (p.Ala250=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 1112666	NM_001062.4(TCN1):c.260-10T>C	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 1089795	NM_001062.4(TCN1):c.1241-7T>A	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 1057314	NM_001062.4(TCN1):c.505C>T (p.His169Tyr)	TCN1 (H169Y)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1043075	NM_001062.4(TCN1):c.497T>C (p.Val166Ala)	TCN1 (V166A)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1036789	NM_001062.4(TCN1):c.344A>T (p.Asp115Val)	TCN1 (D115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1035343	NM_001062.4(TCN1):c.140A>G (p.Asn47Ser)	TCN1 (N47S)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1025075	NM_001062.4(TCN1):c.727A>C (p.Ser243Arg)	TCN1 (S243R)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1022342	NM_001062.4(TCN1):c.69C>T (p.Cys23=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1019642	NC_000011.9:g.(?_59628980)_(59629175_?)dup	TCN1	Duplication	Transcobalamin I deficiency	GUncertain significance
Select item 1018822	NM_001062.4(TCN1):c.556+5G>A	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1011214	NM_001062.4(TCN1):c.1151C>T (p.Pro384Leu)	TCN1 (P384L)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 1005971	NM_001062.4(TCN1):c.358G>A (p.Asp120Asn)	TCN1 (D120N)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 972460	NM_001062.4(TCN1):c.1262G>A (p.Arg421His)	TCN1 (R421H)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 952094	NM_001062.4(TCN1):c.1225G>A (p.Glu409Lys)	TCN1 (E409K)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 948505	NM_001062.4(TCN1):c.1229C>T (p.Pro410Leu)	TCN1 (P410L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 940722	NM_001062.4(TCN1):c.152G>C (p.Gly51Ala)	TCN1 (G51A)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 933675	NM_001062.4(TCN1):c.337A>G (p.Ile113Val)	TCN1 (I113V)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency +1 more	GUncertain significance
Select item 848835	NM_001062.4(TCN1):c.1177T>C (p.Cys393Arg)	TCN1 (C393R)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 848440	NM_001062.4(TCN1):c.994T>G (p.Ser332Ala)	TCN1 (S332A)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GUncertain significance
Select item 847749	NM_001062.4(TCN1):c.683T>C (p.Ile228Thr)	TCN1 (I228T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 800251	NM_001062.4(TCN1):c.343G>A (p.Asp115Asn)	TCN1 (D115N)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GLikely benign
Select item 789484	NM_001062.4(TCN1):c.653G>T (p.Ser218Ile)	TCN1 (S218I)	Single nucleotide variant (missense variant)	TCN1-related condition +1 more	GLikely benign
Select item 786685	NM_001062.4(TCN1):c.925G>A (p.Val309Ile)	TCN1 (V309I)	Single nucleotide variant (missense variant)	TCN1-related condition +2 more	GBenign/Likely benign
Select item 780975	NM_001062.4(TCN1):c.172del (p.Val58fs)	TCN1 (V58fs)	Deletion (frameshift variant)	TCN1-related condition +1 more	GBenign/Likely benign
Select item 779598	NM_001062.4(TCN1):c.1000A>G (p.Ile334Val)	TCN1 (I334V)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency	GLikely benign
Select item 776615	NM_001062.4(TCN1):c.401-9C>T	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GBenign
Select item 726800	NM_001062.4(TCN1):c.855C>T (p.Asn285=)	TCN1	Single nucleotide variant (synonymous variant)	Transcobalamin I deficiency	GLikely benign
Select item 724696	NM_001062.4(TCN1):c.1121+9G>A	TCN1	Single nucleotide variant (intron variant)	Transcobalamin I deficiency	GLikely benign
Select item 659004	NM_001062.4(TCN1):c.776A>G (p.Asn259Ser)	TCN1 (N259S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 618416	NM_001062.4(TCN1):c.954C>T (p.Ser318=)	TCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 618415	NM_001062.4(TCN1):c.980C>G (p.Pro327Arg)	TCN1 (P327R)	Single nucleotide variant (missense variant)	Transcobalamin I deficiency +1 more	GUncertain significance
Select item 568555	NM_001062.4(TCN1):c.26del (p.Leu9fs)	TCN1 (L9fs)	Deletion (frameshift variant)	Transcobalamin I deficiency	GPathogenic

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