"Ambry Genetics"[submitter] AND "AIF1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102511	NM_001623.5(AIF1):c.169T>C (p.Phe57Leu)	AIF1 (F57L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266908	NM_001623.5(AIF1):c.196+21G>C	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2228622	NM_001623.5(AIF1):c.197-64C>T	AIF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2458743	NM_001623.5(AIF1):c.197-45A>G	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2238199	NM_001623.5(AIF1):c.197-42G>C	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2600142	NM_001623.5(AIF1):c.197-36C>T	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2494834	NM_001623.5(AIF1):c.197-34C>T	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2459986	NM_001623.5(AIF1):c.200T>C (p.Ile67Thr)	AIF1 (I67T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406566	NM_001623.5(AIF1):c.215G>A (p.Arg72Gln)	AIF1 (R72Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588369	NM_001623.5(AIF1):c.256C>A (p.Leu86Ile)	AIF1 (L86I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278905	NM_001623.5(AIF1):c.269T>C (p.Ile90Thr)	AIF1 (I36T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287349	NM_001623.5(AIF1):c.310C>G (p.Pro104Ala)	AIF1 (P104A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance