ClinVar for Gene (Select 55247) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299197	NM_018248.3(NEIL3):c.1507G>T (p.Asp503Tyr)	NEIL3 (D503Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299196	NM_018248.3(NEIL3):c.737A>G (p.Tyr246Cys)	NEIL3 (Y246C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299195	NM_018248.3(NEIL3):c.646G>A (p.Glu216Lys)	NEIL3 (E216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299194	NM_018248.3(NEIL3):c.288C>A (p.Phe96Leu)	NEIL3 (F96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299193	NM_018248.3(NEIL3):c.337A>T (p.Asn113Tyr)	NEIL3 (N113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299192	NM_018248.3(NEIL3):c.236T>G (p.Leu79Trp)	NEIL3 (L79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299191	NM_018248.3(NEIL3):c.1672A>C (p.Lys558Gln)	NEIL3 (K558Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299190	NM_018248.3(NEIL3):c.604A>G (p.Ser202Gly)	NEIL3 (S202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239052	NM_018248.3(NEIL3):c.57C>T (p.Leu19=)	LOC129993410, NEIL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191527	NM_018248.3(NEIL3):c.260T>G (p.Phe87Cys)	NEIL3 (F87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191520	NM_018248.3(NEIL3):c.1777G>A (p.Ala593Thr)	NEIL3 (A593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191517	NM_018248.3(NEIL3):c.1741C>G (p.Leu581Val)	NEIL3 (L581V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191513	NM_018248.3(NEIL3):c.1519T>A (p.Cys507Ser)	NEIL3 (C507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191498	NM_018248.3(NEIL3):c.1354A>G (p.Thr452Ala)	NEIL3 (T452A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191492	NM_018248.3(NEIL3):c.1305G>C (p.Lys435Asn)	NEIL3 (K435N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191490	NM_018248.3(NEIL3):c.1258C>T (p.Pro420Ser)	NEIL3 (P420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191486	NM_018248.3(NEIL3):c.115G>A (p.Ala39Thr)	NEIL3 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148912	GRCh37/hg19 4q34.1-34.3(chr4:172781617-182798652)x3	ADAM29, AGA +17 more	Copy number gain	not provided	GPathogenic
Select item 3148847	GRCh37/hg19 4q34.3(chr4:178130291-179899239)x3	AGA, NEIL3	Copy number gain	not provided	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2688528	NM_018248.3(NEIL3):c.1328C>T (p.Pro443Leu)	NEIL3 (P443L)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688527	NM_018248.3(NEIL3):c.1272T>G (p.Val424=)	NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688525	NM_018248.3(NEIL3):c.1143A>G (p.Arg381=)	NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688524	NM_018248.3(NEIL3):c.1558G>A (p.Gly520Arg)	NEIL3 (G520R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688512	NM_018248.3(NEIL3):c.413+10dup	NEIL3	Duplication (intron variant)	not specified	GBenign
Select item 2688485	NM_018248.3(NEIL3):c.869+15T>C	NEIL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688484	NM_018248.3(NEIL3):c.756T>C (p.Pro252=)	NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688480	NM_018248.3(NEIL3):c.628-65C>T	NEIL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688479	NM_018248.3(NEIL3):c.1413A>C (p.Gln471His)	NEIL3 (Q471H)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688466	NM_018248.3(NEIL3):c.350C>G (p.Pro117Arg)	NEIL3 (P117R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688445	NM_018248.3(NEIL3):c.45C>A (p.Arg15=)	LOC129993410, NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688408	NM_018248.3(NEIL3):c.1039+45G>A	NEIL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688367	NM_018248.3(NEIL3):c.627+41G>A	NEIL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2685134	GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	GLRA3, GPM6A +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684401	GRCh37/hg19 4q34.3(chr4:177967466-178820545)x3	AGA, NEIL3	Copy number gain	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2655202	NM_018248.3(NEIL3):c.1639G>T (p.Ala547Ser)	NEIL3 (A547S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2612054	NM_018248.3(NEIL3):c.652A>G (p.Ile218Val)	NEIL3 (I218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606710	NM_018248.3(NEIL3):c.1472T>C (p.Ile491Thr)	NEIL3 (I491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588655	NM_018248.3(NEIL3):c.29A>C (p.Asn10Thr)	LOC129993410, NEIL3 (N10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553997	NM_018248.3(NEIL3):c.357G>C (p.Leu119Phe)	NEIL3 (L119F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486140	NM_018248.3(NEIL3):c.266C>A (p.Pro89Gln)	NEIL3 (P89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479982	NM_018248.3(NEIL3):c.276A>C (p.Leu92Phe)	NEIL3 (L92F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392108	NM_018248.3(NEIL3):c.343G>A (p.Ala115Thr)	NEIL3 (A115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377877	NM_018248.3(NEIL3):c.1150G>C (p.Ala384Pro)	NEIL3 (A384P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348319	NM_018248.3(NEIL3):c.619G>A (p.Ala207Thr)	NEIL3 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331023	NM_018248.3(NEIL3):c.1399C>A (p.Pro467Thr)	NEIL3 (P467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316097	NM_018248.3(NEIL3):c.384T>G (p.Ile128Met)	NEIL3 (I128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308295	NM_018248.3(NEIL3):c.1430T>C (p.Leu477Pro)	NEIL3 (L477P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287860	NM_018248.3(NEIL3):c.145G>T (p.Val49Phe)	NEIL3 (V49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248407	NM_018248.3(NEIL3):c.943C>T (p.Arg315Trp)	NEIL3 (R315W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247366	NM_018248.3(NEIL3):c.91G>T (p.Ala31Ser)	LOC129993410, NEIL3 (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227875	NM_018248.3(NEIL3):c.308T>A (p.Met103Lys)	NEIL3 (M103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1703674	GRCh37/hg19 4q34.3(chr4:178126365-179868269)	AGA, NEIL3	Copy number gain	Aural atresia, congenital	GUncertain significance
Select item 1695117	NM_018248.3(NEIL3):c.1484A>G (p.Asp495Gly)	NEIL3 (D495G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684594	NM_018248.3(NEIL3):c.242A>G (p.Lys81Arg)	NEIL3 (K81R)	Single nucleotide variant (missense variant)	Low-frequency hearing loss +1 more	GUncertain significance
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1340365	GRCh37/hg19 4q34.3(chr4:178060380-179634708)x3	AGA, NEIL3	Copy number gain	not provided	GUncertain significance
Select item 1340232	GRCh37/hg19 4q34.3(chr4:177787607-178486656)x3	AGA, NEIL3	Copy number gain	not provided	GLikely benign
Select item 983279	GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	AADAT, ADAM29 +35 more	Copy number loss	See cases	GPathogenic
Select item 980712	GRCh37/hg19 4q34.3(chr4:178246174-178348202)x1	NEIL3	Copy number loss	not provided	GUncertain significance
Select item 980711	GRCh37/hg19 4q34.3(chr4:177958066-178698605)x1	AGA, NEIL3	Copy number loss	not provided	GLikely benign
Select item 980710	GRCh37/hg19 4q34.3(chr4:178252194-178474897)x3	AGA, NEIL3	Copy number gain	not provided	GLikely benign
Select item 814635	GRCh37/hg19 4q34.3(chr4:178103653-182159987)x3	NEIL3, AGA	Copy number gain	not provided	GUncertain significance
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 709896	NM_018248.3(NEIL3):c.69G>A (p.Ala23=)	NEIL3, LOC129993410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AADAT, ACSL1 +65 more	Copy number gain	not provided	GPathogenic
Select item 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 635946	Single allele	AGA, NEIL3	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 635933	Single allele	SCRG1, SPATA4 +17 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	CLDN22, FAM149A +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	RWDD4, SAP30 +54 more	Copy number loss	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	AADAT, ADAM29 +60 more	Copy number gain	not provided	GPathogenic
Select item 560041	Single allele	ANKRD37, ACSL1 +43 more	Deletion	not provided	GPathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441736	GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1	AADAT, ADAM29 +46 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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