ClinVar for MedGen (Select 934743) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1366781	NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter)	TRNT1 (E277* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa and erythrocytic microcytosis +1 more	GPathogenic/Likely pathogenic
Select item 1323716	NM_182916.3(TRNT1):c.498_501del (p.Phe167fs)	TRNT1 (F167fs)	Deletion (frameshift variant +1 more)	TRNT1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1227102	NM_182916.3(TRNT1):c.148+38A>G	TRNT1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1030387	NM_182916.3(TRNT1):c.565C>A (p.Gln189Lys)	TRNT1 (Q189K)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa and erythrocytic microcytosis +1 more	GUncertain significance
Select item 969591	NM_182916.3(TRNT1):c.900C>A (p.Phe300Leu)	TRNT1 (F300L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more	GUncertain significance
Select item 963695	NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)	TRNT1 (K396E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 933693	NM_182916.3(TRNT1):c.1010del (p.Thr337fs)	TRNT1 (T317fs +1 more)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 863968	NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly)	TRNT1 (D128G)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +3 more	GUncertain significance
Select item 839964	NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys)	TRNT1 (E276K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 827993	NM_182916.3(TRNT1):c.608+6A>T	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 784897	NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg)	TRNT1 (P250R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 663557	NM_182916.3(TRNT1):c.925T>G (p.Leu309Val)	TRNT1 (L289V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 659705	NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp)	TRNT1 (R99W)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +3 more	GUncertain significance
Select item 655830	NM_182916.3(TRNT1):c.567G>T (p.Gln189His)	TRNT1 (Q189H)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 508755	NM_182916.3(TRNT1):c.343-14G>A	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more	GLikely benign
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 380146	NM_182916.3(TRNT1):c.1056+11A>G	TRNT1	Single nucleotide variant (intron variant)	Retinitis pigmentosa and erythrocytic microcytosis +3 more	GBenign
Select item 380145	NM_182916.3(TRNT1):c.948A>G (p.Ala316=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 234935	NM_182916.3(TRNT1):c.609-26T>C	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 234934	NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)	TRNT1 (S418fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 234933	NM_182916.3(TRNT1):c.1252del (p.Ser418fs)	TRNT1 (S398fs +1 more)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 234932	NM_182916.3(TRNT1):c.128_130del (p.Glu43del)	TRNT1 (E43del)	Deletion (inframe_deletion +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 157615	NM_182916.3(TRNT1):c.1057-7C>G	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 23