NOL10[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 2334651	NM_024894.4(NOL10):c.2023G>A (p.Gly675Arg)	NOL10 (G649R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247368	NM_024894.4(NOL10):c.2018C>T (p.Ser673Leu)	NOL10 (S647L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201029	NM_024894.4(NOL10):c.2012G>A (p.Arg671His)	NOL10 (R671H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201026	NM_024894.4(NOL10):c.1814A>G (p.Lys605Arg)	NOL10 (K555R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650677	NM_024894.4(NOL10):c.1797A>G (p.Glu599=)	NOL10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650678	NM_024894.4(NOL10):c.1758A>G (p.Thr586=)	NOL10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2472634	NM_024894.4(NOL10):c.1745A>G (p.Glu582Gly)	NOL10 (E582G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611827	NM_024894.4(NOL10):c.1710G>C (p.Gln570His)	NOL10 (Q520H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525205	NM_024894.4(NOL10):c.1693C>T (p.Arg565Cys)	LOC126806140, NOL10 (R515C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555747	NM_024894.4(NOL10):c.1655A>G (p.Asp552Gly)	LOC126806140, NOL10 (D502G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262636	NM_024894.4(NOL10):c.1649G>A (p.Ser550Asn)	LOC126806140, NOL10 (S500N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597271	NM_024894.4(NOL10):c.1639A>C (p.Ser547Arg)	LOC126806140, NOL10 (S521R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239105	NM_024894.4(NOL10):c.1624C>T (p.Pro542Ser)	LOC126806140, NOL10 (P492S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257387	NM_024894.4(NOL10):c.1613C>A (p.Pro538Gln)	LOC126806140, NOL10 (P488Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201025	NM_024894.4(NOL10):c.1588C>T (p.Arg530Cys)	LOC126806140, NOL10 (R480C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327932	NM_024894.4(NOL10):c.1581A>C (p.Gln527His)	LOC126806140, NOL10 (Q477H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491962	NM_024894.4(NOL10):c.1430C>T (p.Pro477Leu)	LOC126806140, NOL10 (P427L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240327	NM_024894.4(NOL10):c.1417G>A (p.Val473Ile)	NOL10 (V473I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366128	NM_024894.4(NOL10):c.1384G>C (p.Glu462Gln)	NOL10 (E436Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300252	NM_024894.4(NOL10):c.1289G>A (p.Arg430Gln)	NOL10 (R380Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595517	NM_024894.4(NOL10):c.1186C>T (p.Arg396Trp)	NOL10 (R396W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207312	NM_024894.4(NOL10):c.1045C>T (p.Arg349Trp)	NOL10 (R299W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342928	NM_024894.4(NOL10):c.1033G>C (p.Gly345Arg)	NOL10 (G295R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493327	NM_024894.4(NOL10):c.1027G>A (p.Val343Ile)	NOL10 (V293I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300249	NM_024894.4(NOL10):c.1005G>C (p.Lys335Asn)	NOL10 (K285N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303941	NM_024894.4(NOL10):c.986C>T (p.Thr329Met)	NOL10 (T303M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300253	NM_024894.4(NOL10):c.951T>A (p.Asp317Glu)	LOC126806141, NOL10 (D291E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519476	NM_024894.4(NOL10):c.928G>A (p.Glu310Lys)	LOC126806141, NOL10 (E260K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300256	NM_024894.4(NOL10):c.881T>C (p.Ile294Thr)	NOL10 (I294T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3201033	NM_024894.4(NOL10):c.832G>T (p.Val278Phe)	NOL10 (V278F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326422	NM_024894.4(NOL10):c.821C>G (p.Pro274Arg)	NOL10 (P248R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233087	NM_024894.4(NOL10):c.730A>G (p.Met244Val)	NOL10 (M218V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300251	NM_024894.4(NOL10):c.679A>G (p.Ile227Val)	NOL10 (I227V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402352	NM_024894.4(NOL10):c.649G>A (p.Ala217Thr)	NOL10 (A217T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201032	NM_024894.4(NOL10):c.422C>T (p.Ser141Phe)	NOL10 (S141F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541039	NM_024894.4(NOL10):c.278T>C (p.Leu93Ser)	NOL10 (L93S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3201031	NM_024894.4(NOL10):c.274T>C (p.Cys92Arg)	NOL10 (C92R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3300255	NM_024894.4(NOL10):c.233G>A (p.Arg78Gln)	NOL10 (R78Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3300250	NM_024894.4(NOL10):c.227G>A (p.Arg76Gln)	NOL10 (R76Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3201030	NM_024894.4(NOL10):c.226C>T (p.Arg76Trp)	NOL10 (R76W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297138	NM_024894.4(NOL10):c.221A>C (p.Lys74Thr)	NOL10 (K74T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3201028	NM_024894.4(NOL10):c.197A>G (p.Tyr66Cys)	NOL10 (Y66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201027	NM_024894.4(NOL10):c.194A>C (p.Gln65Pro)	NOL10 (Q65P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516319	NM_024894.4(NOL10):c.172A>G (p.Ile58Val)	NOL10 (I58V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508312	NM_024894.4(NOL10):c.153G>A (p.Met51Ile)	NOL10 (M51I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357957	NM_024894.4(NOL10):c.53A>G (p.Lys18Arg)	LOC129933106, NOL10 (K18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220684	NM_024894.4(NOL10):c.28A>G (p.Lys10Glu)	NOL10 (K10E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808002	GRCh37/hg19 2p25.1(chr2:10562411-10918922)x3	ATP6V1C2, HPCAL1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 974747	NC_000002.11:g.10664398_10914786dup	ATP6V1C2, NOL10	Duplication	Megacolon	GUncertain significance
Select item 814218	GRCh37/hg19 2p25.1(chr2:10668077-10958258)x3	ATP6V1C2, NOL10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 689169	GRCh37/hg19 2p25.1(chr2:10479046-11113701)x3	ATP6V1C2, HPCAL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562578	GRCh37/hg19 2p25.1(chr2:10590176-10957034)x3	ATP6V1C2, NOL10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 72