C1855553[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30752	NM_003477.3(PDHX):c.44G>A (p.Arg15His)	LOC130005549, PDHX (R15H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2111	NM_003477.2(PDHX):c.78_162del	LOC130005549, PDHX	Deletion	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 2113	NM_003477.3(PDHX):c.88_91del (p.Lys30fs)	LOC130005549, PDHX (K30fs)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 2116	NM_003477.3(PDHX):c.620del (p.Pro207fs)	PDHX (P207fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 2114	NM_003477.3(PDHX):c.641+1G>A	PDHX	Single nucleotide variant (splice donor variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 2118	NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)	PDHX (Q248* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 2112	NM_003477.3(PDHX):c.965_1023del (p.Asp322fs)	PDHX (D322fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 2115	NM_003477.3(PDHX):c.1024-1G>A	PDHX	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 2119	NM_003477.3(PDHX):c.1183-3088_1247+760del	PDHX	Deletion (splice acceptor variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 162202	NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)	PDHX (R446* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2117	NG_013368.1:g.33923_80418delins[DQ831669.1:28435_34519]	PDHX	Deletion	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic