"Ambry Genetics"[submitter] AND "MIPOL1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2514670	NM_001388067.1(MIPOL1):c.23T>A (p.Ile8Lys)	MIPOL1 (I8K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220002	NM_001388067.1(MIPOL1):c.26C>T (p.Thr9Ile)	MIPOL1 (T9I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471758	NM_001388067.1(MIPOL1):c.47A>G (p.Glu16Gly)	MIPOL1 (E16G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558017	NM_001388067.1(MIPOL1):c.92C>T (p.Thr31Ile)	MIPOL1 (T31I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531311	NM_001388067.1(MIPOL1):c.253G>T (p.Val85Phe)	MIPOL1 (V85F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368651	NM_001388067.1(MIPOL1):c.281A>G (p.His94Arg)	MIPOL1 (H63R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386078	NM_001388067.1(MIPOL1):c.373A>G (p.Thr125Ala)	MIPOL1 (T125A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2206148	NM_001388067.1(MIPOL1):c.648A>C (p.Glu216Asp)	MIPOL1 (E216D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266633	NM_001388067.1(MIPOL1):c.662T>C (p.Leu221Ser)	MIPOL1 (L190S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298062	NM_001388067.1(MIPOL1):c.692C>T (p.Ala231Val)	MIPOL1 (A200V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602266	NM_001388067.1(MIPOL1):c.717G>T (p.Lys239Asn)	MIPOL1 (K208N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464965	NM_001388067.1(MIPOL1):c.809G>A (p.Arg270Gln)	MIPOL1 (R239Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308653	NM_001388067.1(MIPOL1):c.824C>T (p.Ser275Phe)	MIPOL1 (S275F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334568	NM_001388067.1(MIPOL1):c.875A>G (p.Gln292Arg)	MIPOL1 (Q261R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215888	NM_001388067.1(MIPOL1):c.952A>G (p.Met318Val)	MIPOL1 (M251V +3 more)	Single nucleotide variant (missense variant)	MIPOL1-related condition +1 more	GUncertain significance
Select item 2292506	NM_001388067.1(MIPOL1):c.1075T>C (p.Phe359Leu)	MIPOL1 (F323L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524465	NM_001388067.1(MIPOL1):c.1105G>A (p.Ala369Thr)	MIPOL1 (A369T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289688	NM_001388067.1(MIPOL1):c.1165A>G (p.Thr389Ala)	MIPOL1 (T358A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance