"Ambry Genetics"[submitter] AND "UROC1"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331249	NM_144639.3(UROC1):c.2026C>T (p.Leu676Phe)	UROC1 (L676F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622947	NM_144639.3(UROC1):c.1998C>A (p.Asp666Glu)	UROC1 (D726E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186994	NM_144639.3(UROC1):c.1900C>T (p.Arg634Cys)	UROC1 (R694C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262164	NM_144639.3(UROC1):c.1898G>A (p.Arg633Gln)	UROC1 (R693Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370322	NM_144639.3(UROC1):c.1886A>G (p.Asn629Ser)	UROC1 (N689S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513452	NM_144639.3(UROC1):c.1846G>A (p.Glu616Lys)	UROC1 (E616K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186993	NM_144639.3(UROC1):c.1838C>T (p.Pro613Leu)	UROC1 (P613L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186992	NM_144639.3(UROC1):c.1807G>A (p.Gly603Arg)	UROC1 (G603R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378650	NM_144639.3(UROC1):c.1783G>A (p.Val595Met)	UROC1 (V595M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257436	NM_144639.3(UROC1):c.1729G>A (p.Val577Met)	UROC1 (V577M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256203	NM_144639.3(UROC1):c.1703G>A (p.Cys568Tyr)	LOC126806801, UROC1 (C628Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186991	NM_144639.3(UROC1):c.1690G>A (p.Gly564Ser)	LOC126806801, UROC1 (G624S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608241	NM_144639.3(UROC1):c.1676C>A (p.Ser559Tyr)	LOC126806801, UROC1 (S619Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248524	NM_144639.3(UROC1):c.1646G>A (p.Ser549Asn)	LOC126806801, UROC1 (S549N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331247	NM_144639.3(UROC1):c.1625G>A (p.Ser542Asn)	LOC126806801, UROC1 (S602N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609231	NM_144639.3(UROC1):c.1613C>T (p.Pro538Leu)	LOC126806801, UROC1 (P538L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590097	NM_144639.3(UROC1):c.1555C>T (p.Arg519Cys)	UROC1 (R519C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186990	NM_144639.3(UROC1):c.1495G>A (p.Ala499Thr)	UROC1 (A499T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316597	NM_144639.3(UROC1):c.1491G>T (p.Glu497Asp)	UROC1 (E557D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186989	NM_144639.3(UROC1):c.1478G>A (p.Arg493His)	UROC1 (R553H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241665	NM_144639.3(UROC1):c.1472A>G (p.Asn491Ser)	UROC1 (N491S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 423329	NM_144639.3(UROC1):c.1468G>A (p.Asp490Asn)	UROC1 (D490N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2224817	NM_144639.3(UROC1):c.1450G>A (p.Val484Met)	UROC1 (V484M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270942	NM_144639.3(UROC1):c.1445T>C (p.Val482Ala)	UROC1 (V542A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464047	NM_144639.3(UROC1):c.1427T>C (p.Ile476Thr)	UROC1 (I536T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186988	NM_144639.3(UROC1):c.1403C>T (p.Ala468Val)	UROC1 (A468V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186987	NM_144639.3(UROC1):c.1300G>A (p.Val434Met)	UROC1 (V434M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186986	NM_144639.3(UROC1):c.1298A>G (p.Tyr433Cys)	UROC1 (Y493C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325714	NM_144639.3(UROC1):c.1291C>G (p.Pro431Ala)	UROC1 (P431A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331248	NM_144639.3(UROC1):c.1274G>C (p.Arg425Thr)	UROC1 (R485T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362809	NM_144639.3(UROC1):c.1259A>G (p.Lys420Arg)	UROC1 (K480R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492542	NM_144639.3(UROC1):c.1247C>T (p.Ala416Val)	UROC1 (A416V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331245	NM_144639.3(UROC1):c.1232C>G (p.Ala411Gly)	UROC1 (A411G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266853	NM_144639.3(UROC1):c.1206C>G (p.Asp402Glu)	UROC1 (D462E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205958	NM_144639.3(UROC1):c.1183G>A (p.Glu395Lys)	UROC1 (E395K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362891	NM_144639.3(UROC1):c.1085C>T (p.Thr362Met)	UROC1 (T422M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336008	NM_144639.3(UROC1):c.1067C>T (p.Pro356Leu)	UROC1 (P356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 593223	NM_144639.3(UROC1):c.970C>T (p.Arg324Cys)	UROC1 (R384C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2253617	NM_144639.3(UROC1):c.883C>T (p.Arg295Cys)	UROC1 (R295C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508514	NM_144639.3(UROC1):c.839G>T (p.Arg280Leu)	UROC1 (R280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599848	NM_144639.3(UROC1):c.838C>T (p.Arg280Cys)	UROC1 (R280C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187002	NM_144639.3(UROC1):c.807A>G (p.Ile269Met)	UROC1 (I269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331246	NM_144639.3(UROC1):c.787G>A (p.Val263Met)	UROC1 (V263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239655	NM_144639.3(UROC1):c.772A>G (p.Lys258Glu)	UROC1 (K258E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455992	NM_144639.3(UROC1):c.751G>A (p.Gly251Arg)	UROC1 (G251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239957	NM_144639.3(UROC1):c.748G>A (p.Gly250Ser)	UROC1 (G250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397297	NM_144639.3(UROC1):c.737C>T (p.Thr246Ile)	UROC1 (T246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187000	NM_144639.3(UROC1):c.727G>T (p.Val243Phe)	UROC1 (V243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305530	NM_144639.3(UROC1):c.692G>A (p.Arg231His)	UROC1 (R231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223903	NM_144639.3(UROC1):c.667G>C (p.Val223Leu)	UROC1 (V223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342478	NM_144639.3(UROC1):c.655G>A (p.Val219Ile)	UROC1 (V219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216445	NM_144639.3(UROC1):c.637A>T (p.Ile213Phe)	UROC1 (I213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186999	NM_144639.3(UROC1):c.615G>C (p.Met205Ile)	UROC1 (M205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386218	NM_144639.3(UROC1):c.607G>A (p.Gly203Ser)	UROC1 (G203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385696	NM_144639.3(UROC1):c.574G>A (p.Glu192Lys)	UROC1 (E192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331250	NM_144639.3(UROC1):c.518G>A (p.Arg173Gln)	UROC1 (R173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186998	NM_144639.3(UROC1):c.414C>G (p.Phe138Leu)	UROC1 (F138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186997	NM_144639.3(UROC1):c.316A>G (p.Met106Val)	UROC1 (M106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523311	NM_144639.3(UROC1):c.304G>A (p.Ala102Thr)	UROC1 (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186996	NM_144639.3(UROC1):c.298G>C (p.Ala100Pro)	UROC1 (A100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186995	NM_144639.3(UROC1):c.233G>C (p.Arg78Pro)	UROC1 (R78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374963	NM_144639.3(UROC1):c.98C>A (p.Thr33Asn)	UROC1 (T33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187001	NM_144639.3(UROC1):c.79C>T (p.Pro27Ser)	UROC1 (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566464	NM_144639.3(UROC1):c.17C>T (p.Ala6Val)	UROC1 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 64