MEX3D[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	STK11, TCF3 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	LOC130062964, LOC130062965 +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	LOC130062905, LOC130062906 +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 2398160	NM_203304.4(MEX3D):c.*192C>A	MEX3D (P654Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242013	NM_203304.4(MEX3D):c.1781C>T (p.Pro594Leu)	MEX3D (P594L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212685	NM_203304.4(MEX3D):c.1778C>T (p.Ala593Val)	MEX3D (A593V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613754	NM_203304.4(MEX3D):c.1745A>C (p.Glu582Ala)	MEX3D (E582A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252431	NM_203304.4(MEX3D):c.1744G>C (p.Glu582Gln)	MEX3D (E582Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510256	NM_203304.4(MEX3D):c.1595G>A (p.Arg532His)	MEX3D (R532H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281045	NM_203304.4(MEX3D):c.1592G>C (p.Arg531Pro)	MEX3D (R531P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378809	NM_203304.4(MEX3D):c.1570C>T (p.Arg524Cys)	MEX3D (R524C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347294	NM_203304.4(MEX3D):c.1553C>G (p.Pro518Arg)	MEX3D (P518R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275900	NM_203304.4(MEX3D):c.1544C>T (p.Pro515Leu)	MEX3D (P515L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357100	NM_203304.4(MEX3D):c.1531C>T (p.Pro511Ser)	MEX3D (P511S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595531	NM_203304.4(MEX3D):c.1453T>C (p.Phe485Leu)	MEX3D (F485L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265816	NM_203304.4(MEX3D):c.1433G>A (p.Arg478His)	MEX3D (R478H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472419	NM_203304.4(MEX3D):c.1417T>A (p.Trp473Arg)	MEX3D (W473R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472418	NM_203304.4(MEX3D):c.1415T>A (p.Ile472Asn)	MEX3D (I472N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225771	NM_203304.4(MEX3D):c.1318G>C (p.Gly440Arg)	MEX3D (G440R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294676	NM_203304.4(MEX3D):c.1310A>T (p.Glu437Val)	MEX3D (E437V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344168	NM_203304.4(MEX3D):c.1300T>C (p.Phe434Leu)	MEX3D (F434L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377388	NM_203304.4(MEX3D):c.1276G>A (p.Gly426Ser)	MEX3D (G426S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361098	NM_203304.4(MEX3D):c.1266C>A (p.Ser422Arg)	MEX3D (S422R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205066	NM_203304.4(MEX3D):c.1220C>T (p.Ala407Val)	MEX3D (A407V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545567	NM_203304.4(MEX3D):c.1211C>A (p.Ala404Asp)	MEX3D (A404D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552363	NM_203304.4(MEX3D):c.1204C>T (p.Pro402Ser)	MEX3D (P402S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235876	NM_203304.4(MEX3D):c.1153A>C (p.Thr385Pro)	MEX3D (T385P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270584	NM_203304.4(MEX3D):c.1147C>A (p.Pro383Thr)	MEX3D (P383T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410975	NM_203304.4(MEX3D):c.1127C>T (p.Thr376Ile)	MEX3D (T376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528976	NM_203304.4(MEX3D):c.1123A>C (p.Lys375Gln)	MEX3D (K375Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286179	NM_203304.4(MEX3D):c.1028G>C (p.Gly343Ala)	MEX3D (G343A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257066	NM_203304.4(MEX3D):c.725C>T (p.Ser242Leu)	MEX3D (S242L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275173	NM_203304.4(MEX3D):c.619G>A (p.Ala207Thr)	MEX3D (A207T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 2234005	NM_203304.4(MEX3D):c.518G>A (p.Arg173His)	MEX3D (R173H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534276	NM_203304.4(MEX3D):c.495C>G (p.Asp165Glu)	MEX3D (D165E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2261088	NM_203304.4(MEX3D):c.434A>C (p.Asp145Ala)	MEX3D (D145A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544563	NM_203304.4(MEX3D):c.433G>A (p.Asp145Asn)	MEX3D (D145N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275781	NM_203304.4(MEX3D):c.418C>T (p.Arg140Trp)	MEX3D (R140W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236273	NM_203304.4(MEX3D):c.407C>T (p.Pro136Leu)	MEX3D (P136L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465974	NM_203304.4(MEX3D):c.359C>T (p.Ala120Val)	MEX3D (A120V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395340	NM_203304.4(MEX3D):c.350C>A (p.Pro117His)	MEX3D (P117H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540254	NM_203304.4(MEX3D):c.302C>T (p.Pro101Leu)	MEX3D (P101L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341893	NM_203304.4(MEX3D):c.283G>A (p.Gly95Ser)	MEX3D (G95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261920	NM_203304.4(MEX3D):c.158A>C (p.Asp53Ala)	MEX3D (D53A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261918	NM_203304.4(MEX3D):c.152A>C (p.Glu51Ala)	MEX3D (E51A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321729	NM_203304.4(MEX3D):c.136C>T (p.Pro46Ser)	MEX3D (P46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219423	NM_203304.4(MEX3D):c.127G>A (p.Ala43Thr)	MEX3D (A43T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387559	NM_203304.4(MEX3D):c.119A>G (p.Gln40Arg)	MEX3D (Q40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462347	NM_203304.4(MEX3D):c.115G>A (p.Ala39Thr)	MEX3D (A39T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355545	NM_203304.4(MEX3D):c.86G>T (p.Gly29Val)	MEX3D (G29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483308	NM_203304.4(MEX3D):c.79G>A (p.Asp27Asn)	MEX3D (D27N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	CSNK1G2, PEAK3 +35 more	Duplication	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	CBARP, CIRBP +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1808976	GRCh37/hg19 19p13.3(chr19:1356893-1676446)x1	ADAMTSL5, APC2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 685369	GRCh37/hg19 19p13.3(chr19:1342624-1817866)x3	ADAMTSL5, APC2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 635917	NC_000019.9:g.1406030_3597207dup	ABHD17A, ADAMTSL5 +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 80