C5394097[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 816638	NM_001287491.2(TET3):c.1215del (p.Trp406fs)	TET3 (W313fs +1 more)	Deletion (frameshift variant)	Beck-Fahrner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 816631	NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys)	TET3 (R752C +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome +2 more	GUncertain significance
Select item 816635	NM_001287491.2(TET3):c.2552C>T (p.Thr851Met)	TET3 (T851M +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 816634	NM_001287491.2(TET3):c.2722G>T (p.Val908Leu)	TET3 (V908L +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome +2 more	GPathogenic/Likely pathogenic
Select item 816632	NM_001287491.2(TET3):c.3215T>G (p.Phe1072Cys)	TET3 (F1072C +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 816633	NM_001287491.2(TET3):c.3226G>A (p.Ala1076Thr)	TET3 (A1076T +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 816630	NM_001287491.2(TET3):c.3265G>A (p.Val1089Met)	TET3 (V1089M +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 816637	NM_001287491.2(TET3):c.4977_4983del (p.His1660fs)	TET3 (H1567fs +1 more)	Deletion (frameshift variant)	Beck-Fahrner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 816636	NM_001287491.2(TET3):c.5083C>T (p.Gln1695Ter)	TET3 (Q1695* +1 more)	Single nucleotide variant (nonsense)	Beck-Fahrner syndrome +1 more	GPathogenic/Likely pathogenic