HELZ[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
Select item 2321444	NM_014877.4(HELZ):c.5767T>C (p.Phe1923Leu)	HELZ (F1924L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296636	NM_014877.4(HELZ):c.5663C>T (p.Ala1888Val)	HELZ (A1888V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302830	NM_014877.4(HELZ):c.5513A>G (p.Lys1838Arg)	HELZ (K1838R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606034	NM_014877.4(HELZ):c.5434C>G (p.Pro1812Ala)	HELZ (P1812A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283967	NM_014877.4(HELZ):c.5390A>G (p.Asn1797Ser)	HELZ (N1798S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105124	NM_014877.4(HELZ):c.5377C>A (p.Gln1793Lys)	HELZ (Q1793K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467125	NM_014877.4(HELZ):c.5321T>C (p.Val1774Ala)	HELZ (V1774A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261933	NM_014877.4(HELZ):c.5264G>A (p.Arg1755Gln)	HELZ (R1755Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105123	NM_014877.4(HELZ):c.5195T>C (p.Leu1732Ser)	HELZ (L1732S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105122	NM_014877.4(HELZ):c.5191C>T (p.Pro1731Ser)	HELZ (P1731S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354946	NM_014877.4(HELZ):c.5149A>G (p.Ile1717Val)	HELZ (I1717V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311308	NM_014877.4(HELZ):c.5005C>G (p.Leu1669Val)	HELZ (L1670V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648114	NM_014877.4(HELZ):c.4955G>A (p.Arg1652His)	HELZ (R1652H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2487088	NM_014877.4(HELZ):c.4927G>C (p.Val1643Leu)	HELZ (V1643L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481427	NM_014877.4(HELZ):c.4922T>C (p.Ile1641Thr)	HELZ (I1641T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290815	NM_014877.4(HELZ):c.4903A>C (p.Asn1635His)	HELZ (N1636H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242255	NM_014877.4(HELZ):c.4864C>G (p.Pro1622Ala)	HELZ (P1623A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105120	NM_014877.4(HELZ):c.4855C>T (p.Pro1619Ser)	HELZ (P1620S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547309	NM_014877.4(HELZ):c.4840A>G (p.Ser1614Gly)	HELZ (S1614G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535548	NM_014877.4(HELZ):c.4775G>A (p.Arg1592Gln)	HELZ (R1592Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621492	NM_014877.4(HELZ):c.4766G>C (p.Ser1589Thr)	HELZ (S1589T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105118	NM_014877.4(HELZ):c.4754A>G (p.His1585Arg)	HELZ (H1586R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283968	NM_014877.4(HELZ):c.4746A>C (p.Glu1582Asp)	HELZ (E1583D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105117	NM_014877.4(HELZ):c.4658C>T (p.Pro1553Leu)	HELZ, LOC126862622 (P1553L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105116	NM_014877.4(HELZ):c.4651C>T (p.His1551Tyr)	HELZ, LOC126862622 (H1552Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283969	NM_014877.4(HELZ):c.4625A>G (p.His1542Arg)	HELZ, LOC126862622 (H1543R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273649	NM_014877.4(HELZ):c.4582G>A (p.Gly1528Ser)	HELZ, LOC126862622 (G1528S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411486	NM_014877.4(HELZ):c.4493G>A (p.Arg1498His)	HELZ, LOC126862622 (R1499H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283971	NM_014877.4(HELZ):c.4492C>A (p.Arg1498Ser)	HELZ, LOC126862622 (R1498S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105115	NM_014877.4(HELZ):c.4459C>A (p.Pro1487Thr)	HELZ (P1487T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259933	NM_014877.4(HELZ):c.4448T>C (p.Ile1483Thr)	HELZ (I1483T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249708	NM_014877.4(HELZ):c.4417C>T (p.Pro1473Ser)	HELZ (P1473S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220140	NM_014877.4(HELZ):c.4366C>T (p.Pro1456Ser)	HELZ (P1457S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519599	NM_014877.4(HELZ):c.4349C>T (p.Pro1450Leu)	HELZ (P1450L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404182	NM_014877.4(HELZ):c.4342G>A (p.Val1448Ile)	HELZ (V1448I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386915	NM_014877.4(HELZ):c.4289C>A (p.Ala1430Asp)	HELZ (A1430D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105113	NM_014877.4(HELZ):c.4283A>C (p.Asn1428Thr)	HELZ (N1428T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613220	NM_014877.4(HELZ):c.4244C>T (p.Pro1415Leu)	HELZ (P1416L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281228	NM_014877.4(HELZ):c.4225A>C (p.Asn1409His)	HELZ (N1409H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209830	NM_014877.4(HELZ):c.4213C>A (p.Gln1405Lys)	HELZ (Q1406K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518060	NM_014877.4(HELZ):c.4186C>A (p.Pro1396Thr)	HELZ (P1396T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305260	NM_014877.4(HELZ):c.4184C>T (p.Pro1395Leu)	HELZ (P1395L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386937	NM_014877.4(HELZ):c.4117A>G (p.Ile1373Val)	HELZ (I1373V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105112	NM_014877.4(HELZ):c.4091C>T (p.Pro1364Leu)	HELZ (P1365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314402	NM_014877.4(HELZ):c.4085C>T (p.Pro1362Leu)	HELZ (P1362L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591040	NM_014877.4(HELZ):c.4066C>T (p.Pro1356Ser)	HELZ (P1356S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386914	NM_014877.4(HELZ):c.4051G>A (p.Ala1351Thr)	HELZ (A1351T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105111	NM_014877.4(HELZ):c.4048C>A (p.His1350Asn)	HELZ (H1350N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590534	NM_014877.4(HELZ):c.4048C>T (p.His1350Tyr)	HELZ (H1351Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283972	NM_014877.4(HELZ):c.3982A>C (p.Ser1328Arg)	HELZ (S1328R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105110	NM_014877.4(HELZ):c.3904A>G (p.Thr1302Ala)	HELZ (T1303A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331339	NM_014877.4(HELZ):c.3788A>G (p.Gln1263Arg)	HELZ (Q1264R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105109	NM_014877.4(HELZ):c.3783A>G (p.Ile1261Met)	HELZ (I1261M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405418	NM_014877.4(HELZ):c.3511C>T (p.His1171Tyr)	HELZ (H1172Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237210	NM_014877.4(HELZ):c.3500C>G (p.Pro1167Arg)	HELZ (P1167R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105108	NM_014877.4(HELZ):c.3499C>G (p.Pro1167Ala)	HELZ (P1168A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253099	NM_014877.4(HELZ):c.3499C>A (p.Pro1167Thr)	HELZ (P1167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246898	NM_014877.4(HELZ):c.3475A>G (p.Ile1159Val)	HELZ (I1160V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594241	NM_014877.4(HELZ):c.3464T>C (p.Ile1155Thr)	HELZ (I1156T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283965	NM_014877.4(HELZ):c.3414T>A (p.Asn1138Lys)	HELZ (N1138K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402158	NM_014877.4(HELZ):c.3322A>G (p.Ile1108Val)	HELZ (I1108V +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 3105107	NM_014877.4(HELZ):c.3292T>C (p.Tyr1098His)	HELZ (Y1099H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105106	NM_014877.4(HELZ):c.3012T>G (p.His1004Gln)	HELZ (H1004Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283970	NM_014877.4(HELZ):c.2743A>T (p.Ser915Cys)	HELZ (S915C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105105	NM_014877.4(HELZ):c.2662A>C (p.Ser888Arg)	HELZ (S888R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310488	NM_014877.4(HELZ):c.2624A>G (p.Tyr875Cys)	HELZ (Y875C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321493	NM_014877.4(HELZ):c.2588G>A (p.Cys863Tyr)	HELZ (C863Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603207	NM_014877.4(HELZ):c.2418G>A (p.Met806Ile)	HELZ (M806I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105104	NM_014877.4(HELZ):c.2399T>C (p.Met800Thr)	HELZ (M801T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369782	NM_014877.4(HELZ):c.2297G>A (p.Arg766Gln)	HELZ (R766Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377597	NM_014877.4(HELZ):c.2248G>A (p.Ala750Thr)	HELZ (A750T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872323	NM_014877.4(HELZ):c.2117A>G (p.Tyr706Cys)	HELZ (Y706C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599527	NM_014877.4(HELZ):c.1985C>T (p.Pro662Leu)	HELZ (P662L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105103	NM_014877.4(HELZ):c.1911G>C (p.Gln637His)	HELZ (Q637H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648115	NM_014877.4(HELZ):c.1881A>G (p.Pro627=)	HELZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105102	NM_014877.4(HELZ):c.1860C>G (p.Ile620Met)	HELZ (I620M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283962	NM_014877.4(HELZ):c.1858A>G (p.Ile620Val)	HELZ (I620V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283964	NM_014877.4(HELZ):c.1795C>T (p.Pro599Ser)	HELZ (P599S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283966	NM_014877.4(HELZ):c.1777T>C (p.Phe593Leu)	HELZ (F593L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589063	NM_014877.4(HELZ):c.1744C>T (p.Arg582Trp)	HELZ (R582W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260613	NM_014877.4(HELZ):c.1615G>C (p.Val539Leu)	HELZ (V539L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105101	NM_014877.4(HELZ):c.1529G>A (p.Arg510His)	HELZ (R510H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105100	NM_014877.4(HELZ):c.1348T>A (p.Ser450Thr)	HELZ (S450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296579	NM_014877.4(HELZ):c.1213C>T (p.Arg405Cys)	HELZ (R405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487805	NM_014877.4(HELZ):c.1132A>G (p.Arg378Gly)	HELZ (R378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402311	NM_014877.4(HELZ):c.1127T>C (p.Met376Thr)	HELZ (M376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302490	NM_014877.4(HELZ):c.706A>G (p.Met236Val)	HELZ (M236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518050	NM_014877.4(HELZ):c.499C>T (p.His167Tyr)	HELZ (H167Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608339	NM_014877.4(HELZ):c.448C>T (p.Leu150Phe)	HELZ (L150F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205782	NM_014877.4(HELZ):c.63C>G (p.Asp21Glu)	HELZ (D21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815946	GRCh37/hg19 17q24.2(chr17:65050304-65440440)x3	PSMD12, HELZ +2 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564464	GRCh37/hg19 17q24.2(chr17:64963389-65726146)x3	CACNG4, PITPNC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic

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