ClinVar for Gene (Select 254827) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054338	NM_207015.3(NAALADL2):c.693G>A (p.Val231=)	NAALADL2	Single nucleotide variant (synonymous variant)	NAALADL2-related condition	GLikely benign
Select item 3050700	NM_207015.3(NAALADL2):c.559C>G (p.Leu187Val)	NAALADL2 (L187V)	Single nucleotide variant (missense variant)	NAALADL2-related condition	GLikely benign
Select item 3032891	NM_207015.3(NAALADL2):c.819+8G>T	NAALADL2	Single nucleotide variant (intron variant)	NAALADL2-related condition	GLikely benign
Select item 3024089	NC_000003.12:g.(?_175372620)_(176011214_?)del	LOC132088905, NAALADL2 +1 more	Deletion	Autism spectrum disorder	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654283	NM_207015.3(NAALADL2):c.2283C>A (p.Thr761=)	NAALADL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654282	NM_207015.3(NAALADL2):c.373G>A (p.Val125Ile)	NAALADL2, NAALADL2-AS3 (V125I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617727	NM_207015.3(NAALADL2):c.605C>T (p.Thr202Ile)	NAALADL2 (T202I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613231	NM_207015.3(NAALADL2):c.229T>G (p.Ser77Ala)	NAALADL2, NAALADL2-AS3 (S77A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610997	NM_207015.3(NAALADL2):c.521C>G (p.Ala174Gly)	NAALADL2, NAALADL2-AS3 (A174G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595884	NM_207015.3(NAALADL2):c.2233A>G (p.Ile745Val)	NAALADL2 (I745V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570388	NM_207015.3(NAALADL2):c.1681G>C (p.Ala561Pro)	NAALADL2 (A561P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549823	NM_207015.3(NAALADL2):c.1012G>T (p.Val338Leu)	NAALADL2 (V338L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549246	NM_207015.3(NAALADL2):c.2324C>T (p.Ser775Leu)	NAALADL2 (S775L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518803	NM_207015.3(NAALADL2):c.2315G>A (p.Ser772Asn)	NAALADL2 (S772N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491054	NM_207015.3(NAALADL2):c.2363A>G (p.Lys788Arg)	NAALADL2 (K788R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2482799	NM_207015.3(NAALADL2):c.866G>C (p.Arg289Thr)	NAALADL2, NAALADL2-AS2 (R289T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404027	NM_207015.3(NAALADL2):c.1958A>G (p.Asp653Gly)	NAALADL2 (D653G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402646	NM_207015.3(NAALADL2):c.1679G>A (p.Arg560Lys)	NAALADL2 (R560K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397041	NM_207015.3(NAALADL2):c.1211G>A (p.Ser404Asn)	NAALADL2 (S404N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393537	NM_207015.3(NAALADL2):c.685A>G (p.Ser229Gly)	NAALADL2 (S229G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368340	NM_207015.3(NAALADL2):c.288G>T (p.Arg96Ser)	NAALADL2, NAALADL2-AS3 (R96S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361167	NM_207015.3(NAALADL2):c.2032C>T (p.Arg678Cys)	NAALADL2 (R678C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355018	NM_207015.3(NAALADL2):c.77A>G (p.Asp26Gly)	NAALADL2-AS3, NAALADL2 (D26G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345632	NM_207015.3(NAALADL2):c.1807A>G (p.Ser603Gly)	NAALADL2 (S603G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341941	NM_207015.3(NAALADL2):c.1330C>T (p.Arg444Trp)	NAALADL2 (R444W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341283	NM_207015.3(NAALADL2):c.832G>A (p.Asp278Asn)	NAALADL2-AS2, NAALADL2 (D278N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341053	NM_207015.3(NAALADL2):c.2110C>T (p.Arg704Cys)	NAALADL2 (R704C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317910	NM_207015.3(NAALADL2):c.1075G>C (p.Gly359Arg)	NAALADL2 (G359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297334	NM_207015.3(NAALADL2):c.95A>T (p.His32Leu)	NAALADL2-AS3, NAALADL2 (H32L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292701	NM_207015.3(NAALADL2):c.599T>C (p.Ile200Thr)	NAALADL2 (I200T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292084	NM_207015.3(NAALADL2):c.493T>C (p.Tyr165His)	NAALADL2-AS3, NAALADL2 (Y165H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282934	NM_207015.3(NAALADL2):c.2266C>T (p.Leu756Phe)	NAALADL2 (L756F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267939	NM_207015.3(NAALADL2):c.1660A>T (p.Asn554Tyr)	NAALADL2 (N554Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257386	NM_207015.3(NAALADL2):c.425T>C (p.Ile142Thr)	NAALADL2, NAALADL2-AS3 (I142T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257156	NM_207015.3(NAALADL2):c.983A>G (p.Tyr328Cys)	NAALADL2 (Y328C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239014	NM_207015.3(NAALADL2):c.2111G>T (p.Arg704Leu)	NAALADL2 (R704L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215246	NM_207015.3(NAALADL2):c.567A>C (p.Lys189Asn)	NAALADL2 (K189N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1341032	GRCh37/hg19 3q26.31(chr3:174709717-174823119)x1	NAALADL2	Copy number loss	not provided	GUncertain significance
Select item 1340978	GRCh37/hg19 3q26.31(chr3:174544260-174635645)x1	NAALADL2	Copy number loss	not provided	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 988891	NM_207015.3(NAALADL2):c.1534-11_1534-10delinsA	NAALADL2	Indel (intron variant)	Developmental cataract	GLikely benign
Select item 980550	GRCh37/hg19 3q26.31(chr3:175427378-175681513)x3	NAALADL2	Copy number gain	not provided	GUncertain significance
Select item 980548	GRCh37/hg19 3q26.31(chr3:174544361-174635645)x1	NAALADL2	Copy number loss	not provided	GUncertain significance
Select item 814499	GRCh37/hg19 3q26.31-26.32(chr3:175080578-175746690)x1	NAALADL2	Copy number loss	not provided	GLikely benign
Select item 814498	GRCh37/hg19 3q26.31(chr3:175019102-175187539)x1	NAALADL2	Copy number loss	not provided	GUncertain significance
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 788853	NM_207015.3(NAALADL2):c.1587T>G (p.Ser529Arg)	NAALADL2 (S529R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 694264	GRCh37/hg19 3q26.31-26.32(chr3:175507453-177095072)	NAALADL2, TBL1XR1	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 562839	GRCh37/hg19 3q26.31(chr3:175110554-175270405)x1	NAALADL2	Copy number loss	not provided	GUncertain significance
Select item 562838	GRCh37/hg19 3q26.31(chr3:175078505-175185077)x1	NAALADL2	Copy number loss	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 151024	GRCh38/hg38 3q26.31-26.32(chr3:175435248-176052517)x1	LOC132088905, NAALADL2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	LOC129389166, LOC129389167 +306 more	Copy number gain	See cases	GPathogenic
Select item 149186	GRCh38/hg38 3q26.31-26.32(chr3:175388190-176027582)x1	LOC132088905, NAALADL2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 146672	GRCh38/hg38 3q26.31(chr3:174229965-174748860)x3	LOC126806876, NAALADL2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 60128	GRCh38/hg38 3q26.31-26.32(chr3:175370765-176011624)x1	LOC132088905, NAALADL2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 73