GON4L[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3049890	NM_001282860.2(GON4L):c.6576+8C>T	GON4L	Single nucleotide variant (intron variant)	GON4L-related disorder	GLikely benign
Select item 3029307	NM_001282860.2(GON4L):c.6285T>C (p.His2095=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 2639436	NM_001282860.2(GON4L):c.6250C>A (p.Arg2084=)	GON4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035123	NM_001282860.2(GON4L):c.6135G>A (p.Val2045=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3057304	NM_001282860.2(GON4L):c.6132C>T (p.Thr2044=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3052123	NM_001282860.2(GON4L):c.6042G>A (p.Gln2014=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 594720	NM_001282860.2(GON4L):c.5833C>A (p.Pro1945Thr)	GON4L (P1945T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057151	NM_001282860.2(GON4L):c.4727-10G>C	GON4L	Single nucleotide variant (intron variant)	GON4L-related disorder	GBenign
Select item 3058271	NM_001282860.2(GON4L):c.4644A>G (p.Ala1548=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3049298	NM_001282860.2(GON4L):c.4572A>C (p.Pro1524=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3049889	NM_001282860.2(GON4L):c.4474-3C>T	GON4L	Single nucleotide variant (intron variant)	GON4L-related disorder	GLikely benign
Select item 3052078	NM_001282860.2(GON4L):c.4116G>A (p.Thr1372=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3037905	NM_001282860.2(GON4L):c.3543T>C (p.Thr1181=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3053873	NM_001282860.2(GON4L):c.3474C>T (p.Gly1158=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GBenign
Select item 3042618	NM_001282860.2(GON4L):c.3377A>C (p.Lys1126Thr)	GON4L (K1126T)	Single nucleotide variant (missense variant)	GON4L-related disorder	GLikely benign
Select item 3033605	NM_001282860.2(GON4L):c.3276C>G (p.Leu1092=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3043150	NM_001282860.2(GON4L):c.3223G>A (p.Val1075Met)	GON4L (V1075M)	Single nucleotide variant (missense variant)	GON4L-related disorder	GLikely benign
Select item 3045111	NM_001282860.2(GON4L):c.3006G>A (p.Lys1002=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3053057	NM_001282860.2(GON4L):c.2499G>A (p.Leu833=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 487779	NM_001282860.2(GON4L):c.2455A>G (p.Asn819Asp)	GON4L (N819D)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 2639437	NM_001282860.2(GON4L):c.2119C>G (p.Leu707Val)	GON4L (L707V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3048148	NM_001282860.2(GON4L):c.2040T>C (p.Thr680=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3057948	NM_001282860.2(GON4L):c.1512T>C (p.Val504=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3031780	NM_001282860.2(GON4L):c.1347G>A (p.Pro449=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 3353572	NM_001282860.2(GON4L):c.93C>T (p.Ala31=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3050894	NM_001282860.2(GON4L):c.76G>A (p.Val26Ile)	GON4L (V26I)	Single nucleotide variant (missense variant)	GON4L-related disorder	GLikely benign
Select item 2639438	NM_001282860.2(GON4L):c.74A>G (p.Asn25Ser)	GON4L (N25S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685688	GRCh37/hg19 1q22(chr1:155587741-155728855)x1	DAP3, GON4L +1 more	Copy number loss	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425657	NC_000001.10:g.(?_155581953)_(155880552_?)del	DAP3, GON4L +4 more	Deletion	not provided	GPathogenic
Select item 1808454	GRCh37/hg19 1q22(chr1:155489474-156196407)x3	ARHGEF2, ASH1L +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527293	GRCh37/hg19 1q22(chr1:155616264-156059947)	ARHGEF2, DAP3 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRABP2, LCE2A +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 685261	GRCh37/hg19 1q22(chr1:155381014-155746362)x3	ASH1L, DAP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 565182	GRCh37/hg19 1q22(chr1:155398816-155757026)x3	GON4L, YY1AP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 253835	GRCh37/hg19 1q22(chr1:155412745-155755215)x3	YY1AP1, ASH1L +3 more	Copy number gain	See cases	GUncertain significance

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Items: 53