C4015172[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1378892	NM_182916.3(TRNT1):c.1A>G (p.Met1Val)	TRNT1 (M1V)	Single nucleotide variant (missense variant +2 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
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 1154995	NM_182916.3(TRNT1):c.4C>T (p.Leu2=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
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 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 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 511192	NM_182916.3(TRNT1):c.27C>T (p.His9=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GLikely benign
Select item 2001044	NM_182916.3(TRNT1):c.31C>T (p.Pro11Ser)	TRNT1 (P11S)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1422232	NM_182916.3(TRNT1):c.31C>G (p.Pro11Ala)	TRNT1 (P11A)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1068618	NM_182916.3(TRNT1):c.33_46del (p.Leu13fs)	TRNT1 (L13fs)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 1612189	NM_182916.3(TRNT1):c.36G>A (p.Val12=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1379375	NM_182916.3(TRNT1):c.38T>C (p.Leu13Pro)	TRNT1 (L13P)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1045778	NM_182916.3(TRNT1):c.43C>T (p.Arg15Cys)	TRNT1 (R15C)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1095776	NM_182916.3(TRNT1):c.45T>C (p.Arg15=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
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 1020210	NM_182916.3(TRNT1):c.59T>C (p.Leu20Pro)	TRNT1 (L20P)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1634524	NM_182916.3(TRNT1):c.60G>A (p.Leu20=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1095212	NM_182916.3(TRNT1):c.60G>T (p.Leu20=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1082383	NM_182916.3(TRNT1):c.63C>T (p.Cys21=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1375131	NM_182916.3(TRNT1):c.64C>T (p.Leu22Phe)	TRNT1 (L22F)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1036569	NM_182916.3(TRNT1):c.65T>G (p.Leu22Arg)	TRNT1 (L22R)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
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 772448	NM_182916.3(TRNT1):c.67_68delinsGT (p.Pro23Val)	TRNT1 (P23V)	Indel (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GBenign
Select item 506590	NM_182916.3(TRNT1):c.67C>G (p.Pro23Ala)	TRNT1 (P23A)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more	GBenign
Select item 475269	NM_182916.3(TRNT1):c.68= (p.Pro23=)	TRNT1	Single nucleotide variant (no sequence alteration +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GBenign
Select item 403570	NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu)	TRNT1 (P23L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 2129809	NM_182916.3(TRNT1):c.73C>A (p.Gln25Lys)	TRNT1 (Q25K)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1068812	NM_182916.3(TRNT1):c.73C>T (p.Gln25Ter)	TRNT1 (Q25*)	Single nucleotide variant (nonsense +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 1968252	NM_182916.3(TRNT1):c.74A>G (p.Gln25Arg)	TRNT1 (Q25R)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1021371	NM_182916.3(TRNT1):c.74A>C (p.Gln25Pro)	TRNT1 (Q25P)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1348519	NM_182916.3(TRNT1):c.75G>T (p.Gln25His)	TRNT1 (Q25H)	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 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 2001045	NM_182916.3(TRNT1):c.81A>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 851985	NM_182916.3(TRNT1):c.88A>G (p.Met30Val)	TRNT1 (M30V)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1566525	NM_182916.3(TRNT1):c.93G>A (p.Lys31=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 383920	NM_182916.3(TRNT1):c.105C>T (p.Pro35=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GBenign/Likely benign
Select item 1352537	NM_182916.3(TRNT1):c.106G>A (p.Glu36Lys)	TRNT1 (E36K)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 998597	NM_182916.3(TRNT1):c.107A>G (p.Glu36Gly)	TRNT1 (E36G)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 662894	NM_182916.3(TRNT1):c.107A>T (p.Glu36Val)	TRNT1 (E36V)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 856537	NM_182916.3(TRNT1):c.112C>G (p.Gln38Glu)	TRNT1 (Q38E)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1439826	NM_182916.3(TRNT1):c.114G>C (p.Gln38His)	TRNT1 (Q38H)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1355860	NM_182916.3(TRNT1):c.118C>G (p.Leu40Val)	TRNT1 (L40V)	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 234932	NM_182916.3(TRNT1):c.128_130del (p.Glu43del)	TRNT1 (E43del)	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380598	NM_182916.3(TRNT1):c.133C>T (p.Leu45=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1721777	NM_182916.3(TRNT1):c.140_141delinsTC (p.Ser47Ile)	TRNT1 (S47I)	Indel (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 964389	NM_182916.3(TRNT1):c.145A>G (p.Thr49Ala)	TRNT1 (T49A)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 654838	NM_182916.3(TRNT1):c.148+3G>A	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
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 1553845	NM_182916.3(TRNT1):c.148+12G>A	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1129118	NM_182916.3(TRNT1):c.148+14A>G	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1649926	NM_182916.3(TRNT1):c.148+15T>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1585482	NM_182916.3(TRNT1):c.148+17C>T	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
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 1093449	NM_182916.3(TRNT1):c.149-19T>G	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1616795	NM_182916.3(TRNT1):c.149-16T>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
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 1408624	NM_182916.3(TRNT1):c.149-10C>G	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1108416	NM_182916.3(TRNT1):c.149-9T>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1570265	NM_182916.3(TRNT1):c.149-5C>T	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
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 2015588	NM_182916.3(TRNT1):c.151T>A (p.Leu51Ile)	TRNT1 (L51I)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1010033	NM_182916.3(TRNT1):c.155T>C (p.Phe52Ser)	TRNT1 (F52S)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1990973	NM_182916.3(TRNT1):c.165G>T (p.Glu55Asp)	TRNT1 (E55D)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
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 1009449	NM_182916.3(TRNT1):c.170A>G (p.His57Arg)	TRNT1 (H57R)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1439376	NM_182916.3(TRNT1):c.171C>A (p.His57Gln)	TRNT1 (H57Q)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 715190	NM_182916.3(TRNT1):c.171C>T (p.His57=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2009367	NM_182916.3(TRNT1):c.176_182del (p.Glu58_Leu59insTer)	TRNT1	Deletion (nonsense +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 1063722	NM_182916.3(TRNT1):c.172G>A (p.Glu58Lys)	TRNT1 (E58K)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1922381	NM_182916.3(TRNT1):c.179G>C (p.Arg60Thr)	TRNT1 (R60T)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1044687	NM_182916.3(TRNT1):c.179G>T (p.Arg60Ile)	TRNT1 (R60I)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1367783	NM_182916.3(TRNT1):c.182T>G (p.Ile61Arg)	TRNT1 (I61R)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 851045	NM_182916.3(TRNT1):c.184G>T (p.Ala62Ser)	TRNT1 (A62S)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 660765	NM_182916.3(TRNT1):c.185C>G (p.Ala62Gly)	TRNT1 (A62G)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1044848	NM_182916.3(TRNT1):c.193G>C (p.Ala65Pro)	TRNT1 (A65P)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1651637	NM_182916.3(TRNT1):c.198G>A (p.Val66=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1053449	NM_182916.3(TRNT1):c.208T>G (p.Leu70Val)	TRNT1 (L70V)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1000971	NM_182916.3(TRNT1):c.210A>C (p.Leu70Phe)	TRNT1 (L70F)	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 (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 569812	NM_182916.3(TRNT1):c.215G>C (p.Gly72Ala)	TRNT1 (G72A)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1076642	NM_182916.3(TRNT1):c.218_219insGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA (p.Val73_Lys74insArgAspLeuLeuAsnTyrLysPheIleLysTrpIleTyrTer)	TRNT1	Insertion (nonsense +2 more)	TRNT1-related disorder +1 more	GPathogenic
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 381865	NM_182916.3(TRNT1):c.231T>C (p.Asp77=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 542064	NM_182916.3(TRNT1):c.233T>C (p.Ile78Thr)	TRNT1 (I78T)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1367269	NM_182916.3(TRNT1):c.234A>G (p.Ile78Met)	TRNT1 (I78M)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1074723	NM_182916.3(TRNT1):c.240del (p.Phe80fs)	TRNT1 (F80fs)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 1063955	NM_182916.3(TRNT1):c.250G>C (p.Ala84Pro)	TRNT1 (A84P)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 840669	NM_182916.3(TRNT1):c.251C>G (p.Ala84Gly)	TRNT1 (A84G)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 665462	NM_182916.3(TRNT1):c.259A>G (p.Thr87Ala)	TRNT1 (T87A)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more	GConflicting classifications of pathogenicity
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 1445091	NM_182916.3(TRNT1):c.262C>G (p.Gln88Glu)	TRNT1 (Q88E)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1447899	NM_182916.3(TRNT1):c.263_266del (p.Gln88fs)	TRNT1 (Q88fs)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 1041772	NM_182916.3(TRNT1):c.264A>G (p.Gln88=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
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 1377412	NM_182916.3(TRNT1):c.277T>A (p.Phe93Ile)	TRNT1 (F93I)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1642575	NM_182916.3(TRNT1):c.282G>A (p.Gln94=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1348567	NM_182916.3(TRNT1):c.282G>T (p.Gln94His)	TRNT1 (Q94H)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 542063	NM_182916.3(TRNT1):c.284C>T (p.Ser95Leu)	TRNT1 (S95L)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance

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