131669[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	GOLGB1, LOC129389118 +326 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ALDH1L1-AS1, ALDH1L1-AS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2654094	NM_144639.3(UROC1):c.1998C>T (p.Asp666=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622947	NM_144639.3(UROC1):c.1998C>A (p.Asp666Glu)	UROC1 (D726E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672951	NM_144639.3(UROC1):c.1941C>T (p.Cys647=)	UROC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 724727	NM_144639.3(UROC1):c.1928A>G (p.Tyr643Cys)	UROC1 (Y703C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2262164	NM_144639.3(UROC1):c.1898G>A (p.Arg633Gln)	UROC1 (R693Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370322	NM_144639.3(UROC1):c.1886A>G (p.Asn629Ser)	UROC1 (N689S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513452	NM_144639.3(UROC1):c.1846G>A (p.Glu616Lys)	UROC1 (E616K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130699	NM_144639.3(UROC1):c.1845C>T (p.Ala615=)	UROC1	Single nucleotide variant (synonymous variant)	Urocanate hydratase deficiency	GBenign
Select item 740540	NM_144639.3(UROC1):c.1830C>T (p.Asp610=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040061	NM_144639.3(UROC1):c.1815C>T (p.Phe605=)	UROC1	Single nucleotide variant (synonymous variant)	UROC1-related condition	GLikely benign
Select item 3046548	NM_144639.3(UROC1):c.1812A>G (p.Gly604=)	UROC1	Single nucleotide variant (synonymous variant)	UROC1-related condition	GLikely benign
Select item 729607	NM_144639.3(UROC1):c.1791-8T>G	UROC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2378650	NM_144639.3(UROC1):c.1783G>A (p.Val595Met)	UROC1 (V595M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726175	NM_144639.3(UROC1):c.1782C>T (p.Gly594=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3046385	NM_144639.3(UROC1):c.1773C>T (p.Asn591=)	UROC1	Single nucleotide variant (synonymous variant)	UROC1-related condition	GLikely benign
Select item 747862	NM_144639.3(UROC1):c.1746C>T (p.Arg582=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257436	NM_144639.3(UROC1):c.1729G>A (p.Val577Met)	UROC1 (V577M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734813	NM_144639.3(UROC1):c.1709-4G>A	UROC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 218528	NM_144639.3(UROC1):c.1709-5C>T	UROC1	Single nucleotide variant (intron 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)	Inborn genetic diseases	GUncertain significance
Select item 2608241	NM_144639.3(UROC1):c.1676C>A (p.Ser559Tyr)	LOC126806801, UROC1 (S619Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780409	NM_144639.3(UROC1):c.1653C>T (p.Thr551=)	LOC126806801, UROC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2248524	NM_144639.3(UROC1):c.1646G>A (p.Ser549Asn)	LOC126806801, UROC1 (S549N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727533	NM_144639.3(UROC1):c.1641C>T (p.Asp547=)	LOC126806801, UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609231	NM_144639.3(UROC1):c.1613C>T (p.Pro538Leu)	LOC126806801, UROC1 (P538L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684193	NM_144639.3(UROC1):c.1609-31T>G	LOC126806801, UROC1	Single nucleotide variant (intron variant)	Urocanate hydratase deficiency	GBenign
Select item 785864	NM_144639.3(UROC1):c.1591G>A (p.Ala531Thr)	UROC1 (A531T +1 more)	Single nucleotide variant (missense variant)	UROC1-related condition +1 more	GBenign
Select item 769613	NM_144639.3(UROC1):c.1587C>T (p.Ala529=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2590097	NM_144639.3(UROC1):c.1555C>T (p.Arg519Cys)	UROC1 (R519C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729129	NM_144639.3(UROC1):c.1510-6C>T	UROC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784022	NM_144639.3(UROC1):c.1510-8C>T	UROC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035488	NM_144639.3(UROC1):c.1510-10C>T	UROC1	Single nucleotide variant (intron variant)	UROC1-related condition	GLikely benign
Select item 2316597	NM_144639.3(UROC1):c.1491G>T (p.Glu497Asp)	UROC1 (E557D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780410	NM_144639.3(UROC1):c.1487G>A (p.Arg496Gln)	UROC1 (R556Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2241665	NM_144639.3(UROC1):c.1472A>G (p.Asn491Ser)	UROC1 (N491S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 423329	NM_144639.3(UROC1):c.1468G>A (p.Asp490Asn)	UROC1 (D490N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Inborn genetic diseases	GUncertain significance
Select item 973479	NM_144639.3(UROC1):c.1448_1449del (p.Ser483fs)	UROC1 (S483fs +1 more)	Deletion (frameshift variant)	Urocanate hydratase deficiency	GPathogenic
Select item 2270942	NM_144639.3(UROC1):c.1445T>C (p.Val482Ala)	UROC1 (V542A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 740340	NM_144639.3(UROC1):c.1443G>A (p.Lys481=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2464047	NM_144639.3(UROC1):c.1427T>C (p.Ile476Thr)	UROC1 (I536T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723797	NM_144639.3(UROC1):c.1407A>G (p.Thr469=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778110	NM_144639.3(UROC1):c.1365G>A (p.Ser455=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 407	NM_144639.3(UROC1):c.1348C>T (p.Arg450Cys)	UROC1 (R450C +1 more)	Single nucleotide variant (missense variant)	Urocanate hydratase deficiency	GPathogenic
Select item 2325714	NM_144639.3(UROC1):c.1291C>G (p.Pro431Ala)	UROC1 (P431A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377361	NM_144639.3(UROC1):c.1286G>A (p.Arg429His)	UROC1 (R489H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791949	NM_144639.3(UROC1):c.1285C>T (p.Arg429Cys)	UROC1 (R429C +1 more)	Single nucleotide variant (missense variant)	UROC1-related condition +1 more	GBenign
Select item 2362809	NM_144639.3(UROC1):c.1259A>G (p.Lys420Arg)	UROC1 (K480R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492542	NM_144639.3(UROC1):c.1247C>T (p.Ala416Val)	UROC1 (A416V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719662	NM_144639.3(UROC1):c.1209C>T (p.Tyr403=)	UROC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2266853	NM_144639.3(UROC1):c.1206C>G (p.Asp402Glu)	UROC1 (D462E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205958	NM_144639.3(UROC1):c.1183G>A (p.Glu395Lys)	UROC1 (E395K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1684194	NM_144639.3(UROC1):c.1146-33A>G	UROC1	Single nucleotide variant (intron variant)	Urocanate hydratase deficiency	GBenign
Select item 726577	NM_144639.3(UROC1):c.1086G>A (p.Thr362=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362891	NM_144639.3(UROC1):c.1085C>T (p.Thr362Met)	UROC1 (T422M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336008	NM_144639.3(UROC1):c.1067C>T (p.Pro356Leu)	UROC1 (P356L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130698	NM_144639.3(UROC1):c.1056C>T (p.Gly352=)	UROC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 792944	NM_144639.3(UROC1):c.1023A>T (p.Ser341=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654095	NM_144639.3(UROC1):c.996G>A (p.Thr332=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731149	NM_144639.3(UROC1):c.981C>T (p.His327=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593223	NM_144639.3(UROC1):c.970C>T (p.Arg324Cys)	UROC1 (R384C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1705142	NM_144639.3(UROC1):c.908C>A (p.Ala303Glu)	UROC1 (A303E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973468	NM_144639.3(UROC1):c.903-29G>A	UROC1 (A352T)	Single nucleotide variant (missense variant +1 more)	Urocanate hydratase deficiency	GLikely benign
Select item 1205955	NM_144639.3(UROC1):c.903-628G>A	UROC1 (G315S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2253617	NM_144639.3(UROC1):c.883C>T (p.Arg295Cys)	UROC1 (R295C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 973482	NM_144639.3(UROC1):c.855G>A (p.Trp285Ter)	UROC1 (W285*)	Single nucleotide variant (nonsense)	Urocanate hydratase deficiency	GPathogenic
Select item 638417	NM_144639.3(UROC1):c.854G>A (p.Trp285Ter)	UROC1 (W285*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2508514	NM_144639.3(UROC1):c.839G>T (p.Arg280Leu)	UROC1 (R280L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599848	NM_144639.3(UROC1):c.838C>T (p.Arg280Cys)	UROC1 (R280C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 753722	NM_144639.3(UROC1):c.786C>T (p.Ile262=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2239655	NM_144639.3(UROC1):c.772A>G (p.Lys258Glu)	UROC1 (K258E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738792	NM_144639.3(UROC1):c.771C>T (p.Ala257=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455992	NM_144639.3(UROC1):c.751G>A (p.Gly251Arg)	UROC1 (G251R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239957	NM_144639.3(UROC1):c.748G>A (p.Gly250Ser)	UROC1 (G250S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397297	NM_144639.3(UROC1):c.737C>T (p.Thr246Ile)	UROC1 (T246I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719663	NM_144639.3(UROC1):c.709G>C (p.Glu237Gln)	UROC1 (E237Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2305530	NM_144639.3(UROC1):c.692G>A (p.Arg231His)	UROC1 (R231H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298936	NM_144639.3(UROC1):c.676G>A (p.Val226Met)	UROC1 (V226M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2223903	NM_144639.3(UROC1):c.667G>C (p.Val223Leu)	UROC1 (V223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342478	NM_144639.3(UROC1):c.655G>A (p.Val219Ile)	UROC1 (V219I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1032449	NM_144639.3(UROC1):c.640G>A (p.Gly214Ser)	UROC1 (G214S)	Single nucleotide variant (missense variant)	Urocanate hydratase deficiency	GUncertain significance
Select item 2216445	NM_144639.3(UROC1):c.637A>T (p.Ile213Phe)	UROC1 (I213F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717197	NM_144639.3(UROC1):c.608G>A (p.Gly203Asp)	UROC1 (G203D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2386218	NM_144639.3(UROC1):c.607G>A (p.Gly203Ser)	UROC1 (G203S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 772864	NM_144639.3(UROC1):c.606C>T (p.Tyr202=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2385696	NM_144639.3(UROC1):c.574G>A (p.Glu192Lys)	UROC1 (E192K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717198	NM_144639.3(UROC1):c.566C>T (p.Thr189Met)	UROC1 (T189M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654096	NM_144639.3(UROC1):c.563G>A (p.Arg188Gln)	UROC1 (R188Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 789169	NM_144639.3(UROC1):c.562C>T (p.Arg188Trp)	UROC1 (R188W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 792346	NM_144639.3(UROC1):c.507C>T (p.Arg169=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793434	NM_144639.3(UROC1):c.504C>T (p.Ser168=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770891	NM_144639.3(UROC1):c.438G>A (p.Ser146=)	UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720032	NM_144639.3(UROC1):c.412-7C>A	UROC1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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