NOL4L[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 155484	GRCh38/hg38 20q11.21(chr20:32395883-32470045)x3	ASXL1, NOL4L	Copy number gain	See cases	GUncertain significance
Select item 3201062	NM_001256798.2(NOL4L):c.1912G>A (p.Val638Met)	NOL4L (V394M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201061	NM_001256798.2(NOL4L):c.1908G>C (p.Arg636Ser)	NOL4L (R392S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201060	NM_001256798.2(NOL4L):c.1871C>A (p.Thr624Asn)	NOL4L (T624N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213605	NM_001256798.2(NOL4L):c.1871C>T (p.Thr624Ile)	NOL4L (T380I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201059	NM_001256798.2(NOL4L):c.1853C>T (p.Ala618Val)	NOL4L (A618V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201058	NM_001256798.2(NOL4L):c.1842G>A (p.Met614Ile)	NOL4L (M370I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206875	NM_001256798.2(NOL4L):c.1817G>C (p.Ser606Thr)	NOL4L (S362T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300276	NM_001256798.2(NOL4L):c.1756G>C (p.Gly586Arg)	NOL4L (G342R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265184	NM_001256798.2(NOL4L):c.1754G>A (p.Arg585His)	NOL4L (R341H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606669	NM_001256798.2(NOL4L):c.1730A>G (p.Asn577Ser)	NOL4L (N333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201067	NM_001256798.2(NOL4L):c.1726G>A (p.Ala576Thr)	NOL4L (A576T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201066	NM_001256798.2(NOL4L):c.1649A>C (p.His550Pro)	NOL4L (H306P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554000	NM_001256798.2(NOL4L):c.1589G>A (p.Arg530Gln)	NOL4L (R286Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319537	NM_001256798.2(NOL4L):c.1508C>T (p.Thr503Met)	NOL4L (T503M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472841	NM_001256798.2(NOL4L):c.1429C>T (p.Arg477Trp)	NOL4L (R233W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201065	NM_001256798.2(NOL4L):c.1169G>A (p.Ser390Asn)	NOL4L (S146N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201064	NM_001256798.2(NOL4L):c.1127C>G (p.Pro376Arg)	NOL4L (P132R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366742	NM_001256798.2(NOL4L):c.1127C>A (p.Pro376His)	NOL4L (P132H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300274	NM_001256798.2(NOL4L):c.1126C>G (p.Pro376Ala)	NOL4L (P132A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537057	NM_001256798.2(NOL4L):c.1097A>G (p.Tyr366Cys)	NOL4L (Y122C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219656	NM_001256798.2(NOL4L):c.1088G>A (p.Arg363His)	NOL4L (R119H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201063	NM_001256798.2(NOL4L):c.1087C>T (p.Arg363Cys)	NOL4L (R363C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525270	NM_001256798.2(NOL4L):c.1074C>G (p.Asp358Glu)	NOL4L (D114E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334615	NM_001256798.2(NOL4L):c.1072G>A (p.Asp358Asn)	NOL4L (D358N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652256	NM_001256798.2(NOL4L):c.1065C>T (p.Cys355=)	NOL4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343961	NM_001256798.2(NOL4L):c.1022C>T (p.Pro341Leu)	NOL4L (P97L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211108	NM_001256798.2(NOL4L):c.1019C>T (p.Pro340Leu)	NOL4L (P96L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514132	NM_001256798.2(NOL4L):c.982G>A (p.Ala328Thr)	NOL4L (A328T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652257	NM_001256798.2(NOL4L):c.981C>T (p.Ala327=)	NOL4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610265	NM_001256798.2(NOL4L):c.980C>T (p.Ala327Val)	NOL4L (A83V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472757	NM_001256798.2(NOL4L):c.964A>G (p.Met322Val)	NOL4L (M322V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300275	NM_001256798.2(NOL4L):c.952G>A (p.Ala318Thr)	NOL4L (A318T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 832109	NC_000020.10:g.(?_30795725)_(31395729_?)dup	ASXL1, C20orf203 +5 more	Duplication	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 394545	GRCh37/hg19 20q11.21(chr20:30947071-31052777)x1	ASXL1, NOL4L	Copy number loss	See cases	GLikely pathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 51