"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MIP"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578684	NM_012064.4(MIP):c.750G>T (p.Glu250Asp)	MIP (E250D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176948	NM_012064.4(MIP):c.698_699del (p.Arg233fs)	MIP (R233fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 546710	NM_012064.4(MIP):c.418C>A (p.Gln140Lys)	MIP (Q140K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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