ClinVar for Gene (Select 51095) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372369	NM_182916.3(TRNT1):c.130G>A (p.Gly44Arg)	TRNT1 (G44R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362774	NM_016302.4(CRBN):c.1034C>T (p.Pro345Leu)	CRBN, TRNT1 (P344L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 2	GUncertain significance
Select item 3329132	NM_182916.3(TRNT1):c.573A>G (p.Ile191Met)	TRNT1 (I191M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269436	NM_016302.4(CRBN):c.1090A>G (p.Lys364Glu)	CRBN, TRNT1 (K364E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3183161	NM_182916.3(TRNT1):c.1075A>G (p.Thr359Ala)	TRNT1 (T339A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3077290	NM_016302.4(CRBN):c.1118G>T (p.Arg373Leu)	CRBN, TRNT1 (R373L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062684	GRCh37/hg19 3p26.3-26.2(chr3:1921405-3582840)x3	CNTN4, CRBN +2 more	Copy number gain	not specified	GUncertain significance
Select item 3052705	NM_016302.4(CRBN):c.1148+6A>G	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	CRBN-related disorder	GLikely benign
Select item 3044827	NM_182916.3(TRNT1):c.161_164dup (p.Asn56fs)	TRNT1 (N56fs)	Duplication (frameshift variant +1 more)	TRNT1-related disorder	GLikely pathogenic
Select item 3040524	NM_182916.3(TRNT1):c.925T>C (p.Leu309=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	TRNT1-related disorder	GLikely benign
Select item 3027546	NM_182916.3(TRNT1):c.989G>C (p.Arg330Thr)	TRNT1 (R310T +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027545	NM_182916.3(TRNT1):c.949A>G (p.Lys317Glu)	TRNT1 (K297E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027543	NM_182916.3(TRNT1):c.749A>G (p.His250Arg)	TRNT1 (H250R)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3027542	NM_182916.3(TRNT1):c.505T>G (p.Tyr169Asp)	TRNT1 (Y169D)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027541	NM_182916.3(TRNT1):c.408T>G (p.Ala136=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027540	NM_182916.3(TRNT1):c.255C>G (p.Thr85=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027538	NM_182916.3(TRNT1):c.160A>G (p.Lys54Glu)	TRNT1 (K54E)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3025667	NM_182916.3(TRNT1):c.590G>A (p.Arg197Lys)	TRNT1 (R197K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024967	NM_182916.3(TRNT1):c.148+36C>T	TRNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 (non-coding transcript 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 (synonymous 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 (synonymous 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 2688080	NM_182916.3(TRNT1):c.148+630C>A	TRNT1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687992	NM_182916.3(TRNT1):c.148+843_148+844insTGACTCC	TRNT1	Insertion (non-coding transcript variant +1 more)	not specified	GBenign
Select item 2685901	GRCh37/hg19 3p26.3-26.2(chr3:2325704-3741221)x3	CNTN4, CRBN +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685019	GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2671609	Single allele	ARL8B, BHLHE40 +13 more	Deletion	not provided	GPathogenic
Select item 2653444	NM_016302.4(CRBN):c.1071T>C (p.His357=)	CRBN, TRNT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2614539	NM_182916.3(TRNT1):c.1150C>A (p.Pro384Thr)	TRNT1 (P364T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604090	NM_182916.3(TRNT1):c.1141T>C (p.Trp381Arg)	TRNT1 (W361R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2577555	NM_182916.3(TRNT1):c.991A>G (p.Lys331Glu)	TRNT1 (K311E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2533688	NM_182916.3(TRNT1):c.1001T>C (p.Ile334Thr)	TRNT1 (I314T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503153	NM_016302.4(CRBN):c.1030G>A (p.Gly344Arg)	CRBN, TRNT1 (G343R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
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 (missense 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 2352236	NM_016302.4(CRBN):c.1222G>A (p.Asp408Asn)	CRBN, TRNT1 (D407N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2334155	NM_182916.3(TRNT1):c.1252A>T (p.Ser418Cys)	TRNT1 (S398C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301991	NM_182916.3(TRNT1):c.27C>G (p.His9Gln)	TRNT1 (H9Q)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 2291719	NM_182916.3(TRNT1):c.358T>G (p.Phe120Val)	TRNT1 (F120V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 (missense 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 (missense 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 (missense 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 (missense 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

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