NEIL2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	MTMR9, NEIL2 +160 more	Copy number loss	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 57156	GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	LOC129999890, LOC129999891 +88 more	Copy number gain	See cases	GUncertain significance
Select item 152873	GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3	BLK, CTSB +67 more	Copy number gain	See cases	GPathogenic
Select item 154899	GRCh38/hg38 8p23.1(chr8:11732785-11814529)x3	FDFT1, GATA4 +12 more	Copy number gain	See cases	GUncertain significance
Select item 152005	GRCh38/hg38 8p23.1(chr8:11739235-11803434)x1	FDFT1, GATA4 +8 more	Copy number loss	See cases	GPathogenic
Select item 3299187	NM_145043.4(NEIL2):c.10G>A (p.Gly4Arg)	NEIL2 (G4R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2658412	NM_145043.4(NEIL2):c.15G>A (p.Pro5=)	NEIL2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3299185	NM_145043.4(NEIL2):c.35A>G (p.His12Arg)	NEIL2 (H12R)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2455687	NM_145043.4(NEIL2):c.61C>G (p.Gln21Glu)	NEIL2 (Q21E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 623436	NM_145043.4(NEIL2):c.77G>C (p.Gly26Ala)	NEIL2 (G26A)	Single nucleotide variant (missense variant +3 more)	High myopia	GUncertain significance
Select item 3191375	NM_145043.4(NEIL2):c.103G>A (p.Ala35Thr)	NEIL2 (A35T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 771875	NM_145043.4(NEIL2):c.114G>A (p.Gln38=)	NEIL2	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2570313	NM_145043.4(NEIL2):c.129G>C (p.Gln43His)	NEIL2 (Q43H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2297539	NM_145043.4(NEIL2):c.134C>G (p.Thr45Ser)	NEIL2 (T45S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 151545	GRCh38/hg38 8p23.1(chr8:11773771-11821194)x1	FDFT1, LOC113788246 +9 more	Copy number loss	See cases	GLikely benign
Select item 3299188	NM_145043.4(NEIL2):c.199A>G (p.Ser67Gly)	NEIL2 (S6G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 786554	NM_145043.4(NEIL2):c.205C>G (p.Pro69Ala)	NEIL2 (P69A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2563056	NM_145043.4(NEIL2):c.221C>T (p.Pro74Leu)	NEIL2 (P74L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 785243	NM_145043.4(NEIL2):c.307C>T (p.Arg103Trp)	NEIL2 (R42W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3191386	NM_145043.4(NEIL2):c.326C>T (p.Pro109Leu)	NEIL2 (P48L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191395	NM_145043.4(NEIL2):c.337G>T (p.Asp113Tyr)	NEIL2 (D52Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191399	NM_145043.4(NEIL2):c.368C>T (p.Pro123Leu)	NEIL2 (P123L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 285692	NM_145043.4(NEIL2):c.385del (p.Arg129fs)	NEIL2 (R129fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3191402	NM_145043.4(NEIL2):c.390G>T (p.Trp130Cys)	NEIL2 (W130C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191404	NM_145043.4(NEIL2):c.397G>C (p.Val133Leu)	NEIL2 (V133L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 726161	NM_145043.4(NEIL2):c.420C>T (p.Ser140=)	NEIL2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2598573	NM_145043.4(NEIL2):c.452A>T (p.Lys151Ile)	NEIL2 (K90I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217449	NM_145043.4(NEIL2):c.452A>C (p.Lys151Thr)	NEIL2 (K90T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191408	NM_145043.4(NEIL2):c.455C>T (p.Ala152Val)	NEIL2 (A152V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191411	NM_145043.4(NEIL2):c.462G>T (p.Lys154Asn)	NEIL2 (K154N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206701	NM_145043.4(NEIL2):c.475A>G (p.Arg159Gly)	NEIL2 (R159G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191417	NM_145043.4(NEIL2):c.509G>A (p.Gly170Asp)	NEIL2 (G109D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191419	NM_145043.4(NEIL2):c.518G>A (p.Gly173Asp)	NEIL2 (G112D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287125	NM_145043.4(NEIL2):c.566T>A (p.Val189Glu)	NEIL2 (V73E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191426	NM_145043.4(NEIL2):c.574C>G (p.Pro192Ala)	NEIL2 (P192A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207331	NM_145043.4(NEIL2):c.608G>A (p.Arg203Gln)	NEIL2 (R142Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715724	NM_145043.4(NEIL2):c.633C>T (p.Gly211=)	NEIL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2325467	NM_145043.4(NEIL2):c.652T>C (p.Tyr218His)	NEIL2 (Y157H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242521	NM_145043.4(NEIL2):c.671G>C (p.Arg224Thr)	NEIL2 (R108T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191438	NM_145043.4(NEIL2):c.682G>A (p.Gly228Arg)	NEIL2 (G167R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293173	NM_145043.4(NEIL2):c.716A>G (p.Tyr239Cys)	NEIL2 (Y178C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324168	NM_145043.4(NEIL2):c.725G>A (p.Gly242Glu)	NEIL2 (G181E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467665	NM_145043.4(NEIL2):c.731A>G (p.His244Arg)	NEIL2 (H183R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324971	NM_145043.4(NEIL2):c.745G>A (p.Gly249Ser)	NEIL2 (G188S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519182	NM_145043.4(NEIL2):c.767G>T (p.Arg256Leu)	NEIL2 (R195L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299184	NM_145043.4(NEIL2):c.788A>G (p.His263Arg)	NEIL2 (H202R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299183	NM_145043.4(NEIL2):c.797A>C (p.Glu266Ala)	NEIL2 (E266A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299186	NM_145043.4(NEIL2):c.847A>C (p.Thr283Pro)	NEIL2 (T167P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730898	NM_145043.4(NEIL2):c.910C>A (p.Pro304Thr)	NEIL2 (P243T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2294978	NM_145043.4(NEIL2):c.945C>G (p.Cys315Trp)	NEIL2 (C315W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410458	NM_145043.4(NEIL2):c.947C>T (p.Pro316Leu)	NEIL2 (P255L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715725	NM_145043.4(NEIL2):c.948G>A (p.Pro316=)	NEIL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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