MEX3A[gene] - ClinVar

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Items: 56

	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 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 660674	NC_000001.10:g.(?_155870169)_(156108907_?)dup	ARHGEF2-AS2, KHDC4 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2475935	NM_001093725.2(MEX3A):c.1502C>G (p.Thr501Arg)	LOC122128444, MEX3A (T501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320717	NM_001093725.2(MEX3A):c.1424G>A (p.Ser475Asn)	LOC122128444, MEX3A (S475N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242514	NM_001093725.2(MEX3A):c.1379T>A (p.Leu460Gln)	LOC122128444, MEX3A (L460Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125617	NM_001093725.2(MEX3A):c.1375G>C (p.Gly459Arg)	LOC122128444, MEX3A (G459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512666	NM_001093725.2(MEX3A):c.1264C>A (p.Pro422Thr)	LOC122128444, MEX3A (P422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358314	NM_001093725.2(MEX3A):c.1225T>G (p.Ser409Ala)	LOC122128444, MEX3A (S409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371934	NM_001093725.2(MEX3A):c.1184A>T (p.Gln395Leu)	LOC122128444, MEX3A (Q395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260467	NM_001093725.2(MEX3A):c.1027G>A (p.Gly343Ser)	LOC122128444, MEX3A (G343S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294478	NM_001093725.2(MEX3A):c.1019G>A (p.Gly340Asp)	LOC122128444, MEX3A (G340D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125623	NM_001093725.2(MEX3A):c.980G>T (p.Gly327Val)	LOC122128444, MEX3A (G327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612390	NM_001093725.2(MEX3A):c.979G>A (p.Gly327Ser)	LOC122128444, MEX3A (G327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492133	NM_001093725.2(MEX3A):c.970C>T (p.His324Tyr)	LOC122128444, MEX3A (H324Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125621	NM_001093725.2(MEX3A):c.938T>A (p.Ile313Asn)	LOC122128444, MEX3A (I313N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273148	NM_001093725.2(MEX3A):c.923G>A (p.Ser308Asn)	LOC122128444, MEX3A (S308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125620	NM_001093725.2(MEX3A):c.836G>A (p.Arg279His)	LOC122128444, MEX3A (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557767	NM_001093725.2(MEX3A):c.646G>A (p.Val216Met)	LOC122128444, MEX3A (V216M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125618	NM_001093725.2(MEX3A):c.398C>T (p.Thr133Met)	MEX3A (T133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396782	NM_001093725.2(MEX3A):c.382G>A (p.Gly128Ser)	MEX3A (G128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569395	NM_001093725.2(MEX3A):c.242C>A (p.Pro81Gln)	MEX3A (P81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363646	NM_001093725.2(MEX3A):c.230C>G (p.Pro77Arg)	MEX3A (P77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375767	NM_001093725.2(MEX3A):c.226C>A (p.Pro76Thr)	MEX3A (P76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294479	NM_001093725.2(MEX3A):c.180G>C (p.Glu60Asp)	MEX3A (E60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294477	NM_001093725.2(MEX3A):c.163G>A (p.Ala55Thr)	MEX3A (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335363	NM_001093725.2(MEX3A):c.158C>T (p.Pro53Leu)	MEX3A (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125619	NM_001093725.2(MEX3A):c.71G>A (p.Gly24Glu)	MEX3A (G24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357661	NM_001093725.2(MEX3A):c.13G>T (p.Val5Leu)	MEX3A (V5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626991	NM_001093725.2(MEX3A):c.1A>C (p.Met1Leu)	MEX3A (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3062600	GRCh37/hg19 1q22(chr1:155902621-156207096)x3	ARHGEF2, KHDC4 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685831	GRCh37/hg19 1q22(chr1:155864518-156213257)x3	ARHGEF2, BGLAP +14 more	Copy number gain	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 1808454	GRCh37/hg19 1q22(chr1:155489474-156196407)x3	ARHGEF2, ASH1L +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527315	GRCh37/hg19 1q22(chr1:156034721-156240338)	BGLAP, SEMA4A +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527304	GRCh37/hg19 1q22(chr1:155902781-156210031)	PMF1-BGLAP, SLC25A44 +11 more	Copy number gain	not specified	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	SELENBP1, SEMA4A +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1444536	NC_000001.10:g.(?_155870179)_(156146788_?)dup	ARHGEF2, KHDC4 +9 more	Duplication	not provided	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 685546	GRCh37/hg19 1q22(chr1:156037369-156463980)x3	BGLAP, CCT3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 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 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 477767	NC_000001.10:g.(?_155880221)_(156109650_?)del	ARHGEF2, KHDC4 +8 more	Deletion	Noonan syndrome 8	GUncertain significance
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

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Items: 56