ClinVar for MedGen (Select 863609) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020435	NM_182916.3(TRNT1):c.803-17T>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 3017738	NM_182916.3(TRNT1):c.5_12del (p.Leu2fs)	TRNT1 (L2fs)	Deletion (frameshift variant +2 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2989720	NM_182916.3(TRNT1):c.15G>A (p.Leu5=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2959627	NM_182916.3(TRNT1):c.837C>T (p.Asp279=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2915075	NM_182916.3(TRNT1):c.168T>C (p.Asn56=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2900236	NM_182916.3(TRNT1):c.444G>A (p.Ala148=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2891198	NM_182916.3(TRNT1):c.414A>T (p.Val138=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2888186	NM_182916.3(TRNT1):c.1056+13T>G	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2882262	NM_182916.3(TRNT1):c.1023C>T (p.Asp341=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2882168	NM_182916.3(TRNT1):c.222G>A (p.Lys74=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2876292	NM_182916.3(TRNT1):c.1150_1157del (p.Pro384fs)	TRNT1 (P364fs +1 more)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2859561	NM_182916.3(TRNT1):c.1013_1016del (p.Asp338fs)	TRNT1 (D338fs +1 more)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2846876	NM_182916.3(TRNT1):c.270G>A (p.Lys90=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2835003	NM_182916.3(TRNT1):c.261T>C (p.Thr87=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2834290	NM_182916.3(TRNT1):c.1228C>T (p.Gln410Ter)	TRNT1 (Q390* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2830609	NM_182916.3(TRNT1):c.598A>C (p.Arg200=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2830235	NM_182916.3(TRNT1):c.1187T>C (p.Val396Ala)	TRNT1 (V396A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2821755	NM_182916.3(TRNT1):c.1056+14A>T	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2814286	NM_182916.3(TRNT1):c.342+1G>T	TRNT1	Single nucleotide variant (splice donor variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely pathogenic
Select item 2809894	NM_182916.3(TRNT1):c.667del (p.Ile223fs)	TRNT1 (I223fs)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2801253	NM_182916.3(TRNT1):c.148+7G>A	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2780042	NM_182916.3(TRNT1):c.906A>G (p.Val302=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2775608	NM_182916.3(TRNT1):c.1107A>G (p.Gln369=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2759052	NM_182916.3(TRNT1):c.802+15T>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2753914	NM_182916.3(TRNT1):c.481+15T>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2753472	NM_182916.3(TRNT1):c.545G>A (p.Arg182Lys)	TRNT1 (R182K)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2751957	NM_182916.3(TRNT1):c.343-20C>G	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2745857	NM_182916.3(TRNT1):c.544_545insAA (p.Arg182fs)	TRNT1 (R182fs)	Insertion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2744061	NM_182916.3(TRNT1):c.481+19dup	TRNT1	Duplication (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GBenign
Select item 2743169	NM_182916.3(TRNT1):c.802+19G>A	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2739467	NM_182916.3(TRNT1):c.478T>C (p.Leu160=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2738324	NM_182916.3(TRNT1):c.482-7T>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2731489	NM_182916.3(TRNT1):c.522A>G (p.Glu174=)	TRNT1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2725223	NM_182916.3(TRNT1):c.1056+1G>T	TRNT1	Single nucleotide variant (splice donor variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2723694	NM_182916.3(TRNT1):c.802+16A>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2721683	NM_182916.3(TRNT1):c.876A>G (p.Pro292=)	TRNT1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2712436	NM_182916.3(TRNT1):c.151_160del (p.Leu51fs)	TRNT1 (L51fs)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2696296	NM_182916.3(TRNT1):c.1068T>C (p.Pro356=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2427607	NC_000003.11:g.(?_3186248)_(3189838_?)del	TRNT1	Deletion	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2418296	NM_182916.3(TRNT1):c.774C>G (p.Ile258Met)	TRNT1 (I258M)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2417148	NM_182916.3(TRNT1):c.1146C>T (p.Ser382=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2416184	NM_182916.3(TRNT1):c.1013A>G (p.Asp338Gly)	TRNT1 (D318G +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2415165	NM_182916.3(TRNT1):c.886T>C (p.Leu296=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2301991	NM_182916.3(TRNT1):c.27C>G (p.His9Gln)	TRNT1 (H9Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2201563	NM_182916.3(TRNT1):c.776A>G (p.Tyr259Cys)	TRNT1 (Y259C)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 2196440	NM_182916.3(TRNT1):c.800T>C (p.Ile267Thr)	TRNT1 (I267T)	Single nucleotide variant (missense variant +2 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2194874	NM_182916.3(TRNT1):c.509T>C (p.Phe170Ser)	TRNT1 (F170S)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2194465	NM_182916.3(TRNT1):c.567G>A (p.Gln189=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2194104	NM_182916.3(TRNT1):c.293T>G (p.Ile98Ser)	TRNT1 (I98S)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2191971	NM_182916.3(TRNT1):c.1213G>A (p.Gly405Arg)	TRNT1 (G385R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2188778	NM_182916.3(TRNT1):c.1205A>G (p.Lys402Arg)	TRNT1 (K402R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2183289	NM_182916.3(TRNT1):c.609-4G>C	TRNT1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2181541	NM_182916.3(TRNT1):c.435G>T (p.Gln145His)	TRNT1 (Q145H)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2179965	NM_182916.3(TRNT1):c.343-69_343-8del	TRNT1	Deletion (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2178355	NM_182916.3(TRNT1):c.970T>G (p.Leu324Val)	TRNT1 (L304V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2166343	NM_182916.3(TRNT1):c.79C>G (p.Leu27Val)	TRNT1 (L27V)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2161495	NM_182916.3(TRNT1):c.149-6_149-2del	TRNT1	Microsatellite (splice acceptor variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2161280	NM_182916.3(TRNT1):c.1078A>G (p.Thr360Ala)	TRNT1 (T340A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2159777	NM_182916.3(TRNT1):c.1034C>T (p.Pro345Leu)	TRNT1 (P345L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2158466	NM_182916.3(TRNT1):c.1027T>C (p.Leu343=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2157768	NM_182916.3(TRNT1):c.1234C>T (p.Arg412Ter)	TRNT1 (R392* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2157564	NM_182916.3(TRNT1):c.947_948inv (p.Ala316Val)	TRNT1 (A316V +1 more)	Inversion (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2157490	NM_182916.3(TRNT1):c.148+20_148+29del	TRNT1	Deletion (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2156100	NM_182916.3(TRNT1):c.1057-8A>G	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2153340	NM_182916.3(TRNT1):c.1167T>C (p.Ser389=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2147154	NM_182916.3(TRNT1):c.79C>T (p.Leu27=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2146984	NM_182916.3(TRNT1):c.852T>C (p.Asn284=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2145991	NM_182916.3(TRNT1):c.1225C>G (p.Gln409Glu)	TRNT1 (Q409E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2144615	NM_182916.3(TRNT1):c.1178T>A (p.Ile393Asn)	TRNT1 (I373N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2135719	NM_182916.3(TRNT1):c.1051A>G (p.Ile351Val)	TRNT1 (I331V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2133596	NM_182916.3(TRNT1):c.943A>G (p.Ile315Val)	TRNT1 (I295V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2131273	NM_182916.3(TRNT1):c.1056+3A>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2131037	NM_182916.3(TRNT1):c.766C>A (p.His256Asn)	TRNT1 (H256N)	Single nucleotide variant (missense variant +2 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2130885	NM_182916.3(TRNT1):c.802+5G>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2130053	NM_182916.3(TRNT1):c.545G>C (p.Arg182Thr)	TRNT1 (R182T)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2129809	NM_182916.3(TRNT1):c.73C>A (p.Gln25Lys)	TRNT1 (Q25K)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2121198	NM_182916.3(TRNT1):c.586C>G (p.Leu196Val)	TRNT1 (L196V)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2119545	NM_182916.3(TRNT1):c.1223T>C (p.Leu408Ser)	TRNT1 (L388S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2118067	NM_182916.3(TRNT1):c.742G>A (p.Gly248Ser)	TRNT1 (G248S)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2116264	NM_182916.3(TRNT1):c.12C>T (p.Cys4=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2113353	NM_182916.3(TRNT1):c.335C>G (p.Thr112Ser)	TRNT1 (T112S)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2110154	NM_182916.3(TRNT1):c.120T>G (p.Leu40=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2109788	NM_182916.3(TRNT1):c.67_68delinsTT (p.Pro23Leu)	TRNT1 (P23L)	Indel (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2107506	NM_182916.3(TRNT1):c.909A>C (p.Gln303His)	TRNT1 (Q283H +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2105471	NM_182916.3(TRNT1):c.1056+6T>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2104306	NM_182916.3(TRNT1):c.1163dup (p.Ser389fs)	TRNT1 (S389fs +1 more)	Duplication (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2102284	NM_182916.3(TRNT1):c.1290_1291insTTTAA (p.Ile431fs)	TRNT1 (I411fs +1 more)	Insertion (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2100205	NM_182916.3(TRNT1):c.791C>G (p.Ala264Gly)	TRNT1 (A264G)	Single nucleotide variant (missense variant +2 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2093322	NM_182916.3(TRNT1):c.556C>T (p.His186Tyr)	TRNT1 (H186Y)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2092599	NM_182916.3(TRNT1):c.212A>G (p.Asn71Ser)	TRNT1 (N71S)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2090053	NM_182916.3(TRNT1):c.1296G>T (p.Lys432Asn)	TRNT1 (K412N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2086909	NM_182916.3(TRNT1):c.843C>T (p.Val281=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2086035	NM_182916.3(TRNT1):c.854T>C (p.Val285Ala)	TRNT1 (V265A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2083081	NM_182916.3(TRNT1):c.482-4A>G	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2078996	NM_182916.3(TRNT1):c.993A>G (p.Lys331=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2076777	NM_182916.3(TRNT1):c.857A>G (p.Asp286Gly)	TRNT1 (D286G +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2076120	NM_182916.3(TRNT1):c.856G>A (p.Asp286Asn)	TRNT1 (D266N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2074925	NM_182916.3(TRNT1):c.54T>C (p.Ser18=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2067995	NM_182916.3(TRNT1):c.1013_1016dup (p.Ser339delinsArgTer)	TRNT1	Duplication (nonsense +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 2067020	NM_182916.3(TRNT1):c.1281_1283dup (p.Leu428_Ser429insLeu)	TRNT1	Duplication (inframe_insertion +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance

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