"Ambry Genetics"[submitter] AND "TFAM"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2888979	NM_003201.3(TFAM):c.10C>G (p.Leu4Val)	TFAM (L4V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3176439	NM_003201.3(TFAM):c.139G>A (p.Ala47Thr)	TFAM (A47T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313349	NM_003201.3(TFAM):c.278A>G (p.Asp93Gly)	TFAM (D93G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473460	NM_003201.3(TFAM):c.322C>G (p.Gln108Glu)	TFAM (Q108E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2538372	NM_003201.3(TFAM):c.326T>C (p.Val109Ala)	TFAM (V109A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2385274	NM_003201.3(TFAM):c.429G>A (p.Met143Ile)	TFAM (M143I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468768	NM_003201.3(TFAM):c.431C>A (p.Thr144Lys)	TFAM (T144K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325587	NM_003201.3(TFAM):c.613A>G (p.Lys205Glu)	TFAM (K205E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243900	NM_003201.3(TFAM):c.622G>A (p.Glu208Lys)	TFAM (E176K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3325588	NM_003201.3(TFAM):c.625A>T (p.Thr209Ser)	TFAM (T177S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218299	NM_003201.3(TFAM):c.697C>T (p.Arg233Cys)	TFAM (R201C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2465309	NM_003201.3(TFAM):c.698G>A (p.Arg233His)	TFAM (R233H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance