"Ambry Genetics"[submitter] AND "UIMC1"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186287	NM_001199298.2(UIMC1):c.2122C>T (p.Arg708Trp)	UIMC1 (R542W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186286	NM_001199298.2(UIMC1):c.2012G>A (p.Arg671His)	UIMC1 (R671H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349693	NM_001199298.2(UIMC1):c.1943C>G (p.Ala648Gly)	UIMC1 (A482G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186285	NM_001199298.2(UIMC1):c.1928C>T (p.Ser643Phe)	UIMC1 (S643F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186284	NM_001199298.2(UIMC1):c.1919A>T (p.Asp640Val)	UIMC1 (D640V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611794	NM_001199298.2(UIMC1):c.1887G>C (p.Leu629Phe)	UIMC1 (L463F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186283	NM_001199298.2(UIMC1):c.1813G>C (p.Glu605Gln)	UIMC1 (E439Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186282	NM_001199298.2(UIMC1):c.1807A>C (p.Thr603Pro)	UIMC1 (T437P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369173	NM_001199298.2(UIMC1):c.1756G>T (p.Ala586Ser)	UIMC1 (A420S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385064	NM_001199298.2(UIMC1):c.1742C>G (p.Ser581Cys)	UIMC1 (S415C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397563	NM_001199298.2(UIMC1):c.1714T>G (p.Phe572Val)	UIMC1 (F406V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311999	NM_001199298.2(UIMC1):c.1672G>A (p.Asp558Asn)	UIMC1 (D392N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397735	NM_001199298.2(UIMC1):c.1607G>A (p.Arg536Gln)	UIMC1 (R370Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330905	NM_001199298.2(UIMC1):c.1577G>C (p.Gly526Ala)	UIMC1 (G360A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209526	NM_001199298.2(UIMC1):c.1517C>T (p.Pro506Leu)	UIMC1 (P506L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587912	NM_001199298.2(UIMC1):c.1503C>G (p.Asn501Lys)	UIMC1 (N501K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330909	NM_001199298.2(UIMC1):c.1502A>G (p.Asn501Ser)	UIMC1 (N335S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243473	NM_001199298.2(UIMC1):c.1469A>G (p.Lys490Arg)	UIMC1 (K324R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1770419	NM_001199298.2(UIMC1):c.1344C>A (p.Thr448=)	UIMC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 2401963	NM_001199298.2(UIMC1):c.1202C>T (p.Ser401Phe)	UIMC1 (S235F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186280	NM_001199298.2(UIMC1):c.1090T>C (p.Ser364Pro)	UIMC1 (S364P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330910	NM_001199298.2(UIMC1):c.1057A>G (p.Met353Val)	UIMC1 (M353V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397578	NM_001199298.2(UIMC1):c.999G>T (p.Gln333His)	UIMC1 (Q333H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330908	NM_001199298.2(UIMC1):c.967C>A (p.Pro323Thr)	UIMC1 (P323T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186292	NM_001199298.2(UIMC1):c.904G>A (p.Val302Ile)	UIMC1 (V302I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186291	NM_001199298.2(UIMC1):c.768C>G (p.His256Gln)	UIMC1 (H256Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273787	NM_001199298.2(UIMC1):c.724G>A (p.Ala242Thr)	UIMC1 (A242T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465698	NM_001199298.2(UIMC1):c.719G>T (p.Gly240Val)	UIMC1 (G240V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330906	NM_001199298.2(UIMC1):c.705A>T (p.Glu235Asp)	UIMC1 (E235D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465669	NM_001199298.2(UIMC1):c.671C>G (p.Ser224Trp)	UIMC1 (S224W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397650	NM_001199298.2(UIMC1):c.622G>T (p.Val208Leu)	UIMC1 (V208L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295609	NM_001199298.2(UIMC1):c.587G>T (p.Gly196Val)	UIMC1 (G196V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186290	NM_001199298.2(UIMC1):c.578C>T (p.Pro193Leu)	UIMC1 (P193L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330911	NM_001199298.2(UIMC1):c.506A>T (p.His169Leu)	UIMC1 (H169L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186289	NM_001199298.2(UIMC1):c.495T>G (p.Phe165Leu)	UIMC1 (F165L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311752	NM_001199298.2(UIMC1):c.413C>T (p.Pro138Leu)	UIMC1 (P138L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330907	NM_001199298.2(UIMC1):c.385A>G (p.Thr129Ala)	UIMC1 (T129A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1735245	NM_001199298.2(UIMC1):c.381C>T (p.Ser127=)	UIMC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 2268273	NM_001199298.2(UIMC1):c.295G>C (p.Val99Leu)	UIMC1 (V99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458382	NM_001199298.2(UIMC1):c.278A>T (p.Glu93Val)	UIMC1 (E93V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1789075	NM_001199298.2(UIMC1):c.228C>T (p.Ile76=)	UIMC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 3186288	NM_001199298.2(UIMC1):c.44G>A (p.Arg15Gln)	UIMC1 (R15Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2364980	NM_001199298.2(UIMC1):c.37G>A (p.Glu13Lys)	UIMC1 (E13K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311573	NM_001199298.2(UIMC1):c.7C>T (p.Arg3Trp)	UIMC1 (R3W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 44