C4015172[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GLikely pathogenic
Select item 157617	NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile)	TRNT1 (T154I)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 157616	NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser)	TRNT1 (L166S)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 157613	NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile)	TRNT1 (R190I)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
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 157614	NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr)	TRNT1 (I223T)	Single nucleotide variant (missense variant +1 more)	TRNT1-related condition +2 more	GPathogenic
Select item 157615	NM_182916.3(TRNT1):c.1057-7C>G	TRNT1	Single nucleotide variant (intron variant)	TRNT1-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 157618	NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter)	TRNT1 (W381* +1 more)	Insertion (nonsense +1 more)	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