"IBA57-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053335	NM_001010867.4(IBA57):c.39G>C (p.Gly13=)	IBA57	Single nucleotide variant (synonymous variant)	IBA57-related disorder	GLikely benign
Select item 385811	NM_001010867.4(IBA57):c.162C>T (p.Asp54=)	IBA57	Single nucleotide variant (synonymous variant)	IBA57-related disorder +3 more	GLikely benign
Select item 3051895	NM_001010867.4(IBA57):c.201G>C (p.Ala67=)	IBA57	Single nucleotide variant (synonymous variant)	IBA57-related disorder	GLikely benign
Select item 1409036	NM_001010867.4(IBA57):c.316del (p.Thr106fs)	IBA57 (T106fs)	Deletion (frameshift variant)	IBA57-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1980517	NM_001010867.4(IBA57):c.339C>T (p.Tyr113=)	IBA57	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GLikely benign
Select item 1621891	NM_001010867.4(IBA57):c.341+9G>A	IBA57	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GLikely benign
Select item 705605	NM_001010867.4(IBA57):c.342-7C>A	IBA57	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 3058047	NM_001010867.4(IBA57):c.357G>T (p.Ser119=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	IBA57-related disorder	GLikely benign
Select item 3036625	NM_001010867.4(IBA57):c.396G>A (p.Val132=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	IBA57-related disorder	GLikely benign
Select item 381420	NM_001010867.4(IBA57):c.462C>T (p.His154=)	IBA57	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 541313	NM_001010867.4(IBA57):c.645C>T (p.Asp215=)	IBA57	Single nucleotide variant (synonymous variant)	IBA57-related disorder +3 more	GBenign/Likely benign
Select item 707076	NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu)	IBA57 (F117L +1 more)	Single nucleotide variant (missense variant)	IBA57-related disorder +2 more	GBenign/Likely benign
Select item 474298	NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr)	IBA57 (N316T +1 more)	Single nucleotide variant (missense variant)	IBA57-related disorder +2 more	GLikely benign