"Ambry Genetics"[submitter] AND "MIA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2392060	NM_006533.4(MIA):c.7C>T (p.Arg3Trp)	MIA, MIA-RAB4B (R3W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2361784	NM_006533.4(MIA):c.35T>C (p.Ile12Thr)	MIA, MIA-RAB4B (I12T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334606	NM_006533.4(MIA):c.215T>C (p.Val72Ala)	MIA, MIA-RAB4B (V72A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464899	NM_006533.4(MIA):c.235C>T (p.Arg79Cys)	MIA, MIA-RAB4B (R79C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518608	NM_006533.4(MIA):c.254G>C (p.Gly85Ala)	MIA, MIA-RAB4B (G85A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211964	NM_006533.4(MIA):c.278A>G (p.Tyr93Cys)	MIA-RAB4B, MIA (Y93C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316749	NM_006533.4(MIA):c.379G>T (p.Asp127Tyr)	LOC130064489, MIA +1 more (D127Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar