"Eurofins Ntd Llc (ga)"[submitter] AND "TTC19"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137768	NM_017775.3(TTC19):c.-347C>A	TTC19, ZSWIM7	Single nucleotide variant (intron variant)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GBenign/Likely benign
Select item 137770	NM_017775.3(TTC19):c.-169C>G	ZSWIM7, TTC19	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GBenign/Likely benign
Select item 281909	NM_017775.3(TTC19):c.-73G>A	TTC19	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 137772	NM_017775.4(TTC19):c.-15G>A	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2 +2 more	GBenign
Select item 137766	NM_017775.4(TTC19):c.1041A>G (p.Gln347=)	TTC19	Single nucleotide variant (synonymous variant)	Mitochondrial complex III deficiency nuclear type 2 +2 more	GConflicting classifications of pathogenicity

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