NEIL3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 59508	GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1	ADAM29, AGA +85 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 59512	GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1	ADAM29, AGA +103 more	Copy number loss	See cases	GPathogenic
Select item 59513	GRCh38/hg38 4q34.1-34.3(chr4:175013055-181652375)x1	AGA, AGA-DT +59 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
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 2688445	NM_018248.3(NEIL3):c.45C>A (p.Arg15=)	LOC129993410, NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 709896	NM_018248.3(NEIL3):c.69G>A (p.Ala23=)	NEIL3, LOC129993410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3191486	NM_018248.3(NEIL3):c.115G>A (p.Ala39Thr)	NEIL3 (A39T)	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 3299192	NM_018248.3(NEIL3):c.236T>G (p.Leu79Trp)	NEIL3 (L79W)	Single nucleotide variant (missense variant)	not specified	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 3191527	NM_018248.3(NEIL3):c.260T>G (p.Phe87Cys)	NEIL3 (F87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3299194	NM_018248.3(NEIL3):c.288C>A (p.Phe96Leu)	NEIL3 (F96L)	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 3299193	NM_018248.3(NEIL3):c.337A>T (p.Asn113Tyr)	NEIL3 (N113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2688466	NM_018248.3(NEIL3):c.350C>G (p.Pro117Arg)	NEIL3 (P117R)	Single nucleotide variant (missense variant)	not specified	GBenign
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 2316097	NM_018248.3(NEIL3):c.384T>G (p.Ile128Met)	NEIL3 (I128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688512	NM_018248.3(NEIL3):c.413+10dup	NEIL3	Duplication (intron variant)	not specified	GBenign
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 2348319	NM_018248.3(NEIL3):c.619G>A (p.Ala207Thr)	NEIL3 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688367	NM_018248.3(NEIL3):c.627+41G>A	NEIL3	Single nucleotide variant (intron 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 3299195	NM_018248.3(NEIL3):c.646G>A (p.Glu216Lys)	NEIL3 (E216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3299196	NM_018248.3(NEIL3):c.737A>G (p.Tyr246Cys)	NEIL3 (Y246C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688484	NM_018248.3(NEIL3):c.756T>C (p.Pro252=)	NEIL3	Single nucleotide variant (synonymous 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 152445	GRCh38/hg38 4q34.3(chr4:177346067-177579894)x1	AGA, AGA-DT +6 more	Copy number loss	See cases	GBenign
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 2688408	NM_018248.3(NEIL3):c.1039+45G>A	NEIL3	Single nucleotide variant (intron 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 2377877	NM_018248.3(NEIL3):c.1150G>C (p.Ala384Pro)	NEIL3 (A384P)	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 2688527	NM_018248.3(NEIL3):c.1272T>G (p.Val424=)	NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 2688528	NM_018248.3(NEIL3):c.1328C>T (p.Pro443Leu)	NEIL3 (P443L)	Single nucleotide variant (missense variant)	not specified	GBenign
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 2331023	NM_018248.3(NEIL3):c.1399C>A (p.Pro467Thr)	NEIL3 (P467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688479	NM_018248.3(NEIL3):c.1413A>C (p.Gln471His)	NEIL3 (Q471H)	Single nucleotide variant (missense variant)	not specified	GBenign
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 2606710	NM_018248.3(NEIL3):c.1472T>C (p.Ile491Thr)	NEIL3 (I491T)	Single nucleotide variant (missense variant)	not specified	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 3299197	NM_018248.3(NEIL3):c.1507G>T (p.Asp503Tyr)	NEIL3 (D503Y)	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 2688524	NM_018248.3(NEIL3):c.1558G>A (p.Gly520Arg)	NEIL3 (G520R)	Single nucleotide variant (missense variant)	not specified	GBenign
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 3299191	NM_018248.3(NEIL3):c.1672A>C (p.Lys558Gln)	NEIL3 (K558Q)	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 3191520	NM_018248.3(NEIL3):c.1777G>A (p.Ala593Thr)	NEIL3 (A593T)	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	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
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 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 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

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