MICAL3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	LOC130066920, LOC130066917 +112 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	BID, CECR2 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 154503	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	ADA2, ARVCF +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	LINC01664, LINC02891 +226 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	LOC132090637, LOC132090638 +292 more	Copy number gain	See cases	GPathogenic
Select item 150808	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3	ADA2, ATP6V1E1 +101 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 149401	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 more	Copy number gain	See cases	GPathogenic
Select item 2346439	NM_015241.3(MICAL3):c.5866A>G (p.Ile1956Val)	MICAL3 (I1956V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715940	NM_015241.3(MICAL3):c.5742G>T (p.Leu1914=)	MICAL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652842	NM_015241.3(MICAL3):c.5740C>T (p.Leu1914=)	MICAL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365532	NM_015241.3(MICAL3):c.5735C>T (p.Ser1912Leu)	MICAL3 (S1912L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126233	NM_015241.3(MICAL3):c.5633C>T (p.Ala1878Val)	MICAL3 (A1878V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355125	NM_015241.3(MICAL3):c.5617G>A (p.Val1873Met)	MICAL3 (V1873M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325332	NM_015241.3(MICAL3):c.5611A>G (p.Arg1871Gly)	MICAL3 (R1871G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126232	NM_015241.3(MICAL3):c.5599C>T (p.Arg1867Trp)	MICAL3 (R1867W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126231	NM_015241.3(MICAL3):c.5597G>A (p.Arg1866Gln)	MICAL3 (R1866Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478501	NM_015241.3(MICAL3):c.5594A>G (p.Gln1865Arg)	MICAL3 (Q1865R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297280	NM_015241.3(MICAL3):c.5539C>T (p.Arg1847Trp)	MICAL3 (R1847W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126230	NM_015241.3(MICAL3):c.5492G>A (p.Arg1831His)	MICAL3 (R1831H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652843	NM_015241.3(MICAL3):c.5484G>C (p.Leu1828=)	MICAL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375591	NM_015241.3(MICAL3):c.5453C>T (p.Thr1818Ile)	MICAL3 (T1818I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 493330	NM_015241.3(MICAL3):c.5437C>T (p.Arg1813Trp)	MICAL3 (R1813W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652844	NM_015241.3(MICAL3):c.5406C>T (p.Asp1802=)	MICAL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282467	NM_015241.3(MICAL3):c.5394C>A (p.Asp1798Glu)	MICAL3 (D1798E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126228	NM_015241.3(MICAL3):c.5366G>A (p.Arg1789His)	MICAL3 (R1789H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126226	NM_015241.3(MICAL3):c.5363G>A (p.Arg1788Gln)	MICAL3 (R1788Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318567	NM_015241.3(MICAL3):c.5339T>A (p.Val1780Asp)	MICAL3 (V1780D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523613	NM_015241.3(MICAL3):c.5329G>A (p.Val1777Met)	MICAL3 (V1777M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284307	NM_015241.3(MICAL3):c.5324A>C (p.His1775Pro)	MICAL3 (H1775P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532064	NM_015241.3(MICAL3):c.5305A>G (p.Thr1769Ala)	MICAL3 (T1769A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328572	NM_015241.3(MICAL3):c.5302G>A (p.Ala1768Thr)	MICAL3 (A1768T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126225	NM_015241.3(MICAL3):c.5243A>G (p.Lys1748Arg)	MICAL3 (K1748R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524958	NM_015241.3(MICAL3):c.5227G>A (p.Val1743Ile)	MICAL3 (V1743I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490793	NM_015241.3(MICAL3):c.5078G>T (p.Ser1693Ile)	MICAL3 (S1693I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126224	NM_015241.3(MICAL3):c.5077A>G (p.Ser1693Gly)	MICAL3 (S1693G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212964	NM_015241.3(MICAL3):c.5024C>T (p.Pro1675Leu)	MICAL3 (P1675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243276	NM_015241.3(MICAL3):c.4982C>G (p.Pro1661Arg)	MICAL3 (P1661R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652845	NM_015241.3(MICAL3):c.4957C>A (p.Pro1653Thr)	MICAL3 (P1653T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2529027	NM_015241.3(MICAL3):c.4934G>A (p.Arg1645His)	MICAL3 (R1645H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302698	NM_015241.3(MICAL3):c.4933C>T (p.Arg1645Cys)	MICAL3 (R1645C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596969	NM_015241.3(MICAL3):c.4925G>A (p.Gly1642Asp)	MICAL3 (G1642D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456899	NM_015241.3(MICAL3):c.4904C>T (p.Ala1635Val)	MICAL3 (A1635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385070	NM_015241.3(MICAL3):c.4829G>A (p.Arg1610Gln)	MICAL3 (R1610Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236950	NM_015241.3(MICAL3):c.4760C>A (p.Ala1587Glu)	MICAL3 (A1587E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621593	NM_015241.3(MICAL3):c.4748C>A (p.Pro1583His)	MICAL3 (P1583H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232602	NM_015241.3(MICAL3):c.4748C>G (p.Pro1583Arg)	MICAL3 (P1583R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126223	NM_015241.3(MICAL3):c.4721C>T (p.Thr1574Met)	MICAL3 (T1574M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368080	NM_015241.3(MICAL3):c.4717G>A (p.Gly1573Arg)	MICAL3 (G1573R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514354	NM_015241.3(MICAL3):c.4670G>A (p.Arg1557His)	MICAL3 (R1557H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126222	NM_015241.3(MICAL3):c.4663A>G (p.Lys1555Glu)	MICAL3 (K1555E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126221	NM_015241.3(MICAL3):c.4655G>A (p.Arg1552His)	MICAL3 (R1552H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456016	NM_015241.3(MICAL3):c.4640C>T (p.Pro1547Leu)	MICAL3 (P1547L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485998	NM_015241.3(MICAL3):c.4529G>A (p.Arg1510Gln)	MICAL3 (R1510Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348294	NM_015241.3(MICAL3):c.4495C>T (p.Arg1499Trp)	MICAL3 (R1499W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250882	NM_015241.3(MICAL3):c.4495C>G (p.Arg1499Gly)	MICAL3 (R1499G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126220	NM_015241.3(MICAL3):c.4487G>A (p.Arg1496Gln)	MICAL3 (R1496Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672893	NM_015241.3(MICAL3):c.4480T>G (p.Trp1494Gly)	MICAL3 (W1494G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3126219	NM_015241.3(MICAL3):c.4474G>A (p.Ala1492Thr)	MICAL3 (A1492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589075	NM_015241.3(MICAL3):c.4474G>C (p.Ala1492Pro)	MICAL3 (A1492P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393504	NM_015241.3(MICAL3):c.4463C>T (p.Pro1488Leu)	MICAL3 (P1488L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126218	NM_015241.3(MICAL3):c.4448C>T (p.Ala1483Val)	MICAL3 (A1483V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126217	NM_015241.3(MICAL3):c.4445A>G (p.Asn1482Ser)	MICAL3 (N1482S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224138	NM_015241.3(MICAL3):c.4418G>A (p.Arg1473Gln)	MICAL3 (R1473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514210	NM_015241.3(MICAL3):c.4417C>T (p.Arg1473Trp)	MICAL3 (R1473W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519799	NM_015241.3(MICAL3):c.4360A>G (p.Thr1454Ala)	MICAL3 (T1454A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126216	NM_015241.3(MICAL3):c.4356G>T (p.Met1452Ile)	MICAL3 (M1452I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521600	NM_015241.3(MICAL3):c.4256G>A (p.Arg1419His)	MICAL3 (R1419H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 493331	NM_015241.3(MICAL3):c.4243G>A (p.Ala1415Thr)	MICAL3 (A1415T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786693	NM_015241.3(MICAL3):c.4237C>T (p.Arg1413Cys)	MICAL3 (R1413C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2289862	NM_015241.3(MICAL3):c.4213C>T (p.Arg1405Trp)	MICAL3 (R1405W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353861	NM_015241.3(MICAL3):c.4211C>G (p.Pro1404Arg)	MICAL3 (P1404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220399	NM_015241.3(MICAL3):c.4208C>T (p.Thr1403Ile)	MICAL3 (T1403I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246440	NM_015241.3(MICAL3):c.4184A>C (p.Glu1395Ala)	MICAL3 (E1395A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280317	NM_015241.3(MICAL3):c.4118A>G (p.Gln1373Arg)	MICAL3 (Q1373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392142	NM_015241.3(MICAL3):c.4102G>A (p.Val1368Ile)	MICAL3 (V1368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544306	NM_015241.3(MICAL3):c.4079C>T (p.Pro1360Leu)	MICAL3 (P1360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274034	NM_015241.3(MICAL3):c.4004G>A (p.Arg1335His)	MICAL3 (R1335H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473377	NM_015241.3(MICAL3):c.3994G>T (p.Ala1332Ser)	MICAL3 (A1332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652846	NM_015241.3(MICAL3):c.3919A>G (p.Arg1307Gly)	MICAL3 (R1307G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2594642	NM_015241.3(MICAL3):c.3890C>A (p.Pro1297His)	MICAL3 (P1297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789678	NM_015241.3(MICAL3):c.3857C>T (p.Pro1286Leu)	MICAL3 (P1286L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2524335	NM_015241.3(MICAL3):c.3841C>T (p.Arg1281Cys)	MICAL3 (R1281C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220071	NM_015241.3(MICAL3):c.3839T>C (p.Ile1280Thr)	MICAL3 (I1280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350361	NM_015241.3(MICAL3):c.3817C>T (p.Pro1273Ser)	MICAL3 (P1273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126215	NM_015241.3(MICAL3):c.3809C>T (p.Ala1270Val)	MICAL3 (A1270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312761	NM_015241.3(MICAL3):c.3725C>T (p.Pro1242Leu)	MICAL3 (P1242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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