Related gene-specific medical variations for Gene (Select 254827) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298318	NM_207015.3(NAALADL2):c.190T>A (p.Phe64Ile)	NAALADL2, NAALADL2-AS3 (F64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172318	NM_207015.3(NAALADL2):c.537G>C (p.Lys179Asn)	NAALADL2, NAALADL2-AS3 (K179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172316	NM_207015.3(NAALADL2):c.526G>C (p.Asp176His)	NAALADL2, NAALADL2-AS3 (D176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172304	NM_207015.3(NAALADL2):c.389G>T (p.Cys130Phe)	NAALADL2, NAALADL2-AS3 (C130F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172301	NM_207015.3(NAALADL2):c.389G>A (p.Cys130Tyr)	NAALADL2, NAALADL2-AS3 (C130Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172298	NM_207015.3(NAALADL2):c.362A>G (p.Asn121Ser)	NAALADL2, NAALADL2-AS3 (N121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172295	NM_207015.3(NAALADL2):c.355C>T (p.Arg119Cys)	NAALADL2, NAALADL2-AS3 (R119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172289	NM_207015.3(NAALADL2):c.257C>A (p.Ser86Tyr)	NAALADL2, NAALADL2-AS3 (S86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2613231	NM_207015.3(NAALADL2):c.229T>G (p.Ser77Ala)	NAALADL2, NAALADL2-AS3 (S77A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610997	NM_207015.3(NAALADL2):c.521C>G (p.Ala174Gly)	NAALADL2, NAALADL2-AS3 (A174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482799	NM_207015.3(NAALADL2):c.866G>C (p.Arg289Thr)	NAALADL2, NAALADL2-AS2 (R289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368340	NM_207015.3(NAALADL2):c.288G>T (p.Arg96Ser)	NAALADL2, NAALADL2-AS3 (R96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355018	NM_207015.3(NAALADL2):c.77A>G (p.Asp26Gly)	NAALADL2, NAALADL2-AS3 (D26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341283	NM_207015.3(NAALADL2):c.832G>A (p.Asp278Asn)	NAALADL2, NAALADL2-AS2 (D278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297334	NM_207015.3(NAALADL2):c.95A>T (p.His32Leu)	NAALADL2, NAALADL2-AS3 (H32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292084	NM_207015.3(NAALADL2):c.493T>C (p.Tyr165His)	NAALADL2, NAALADL2-AS3 (Y165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257386	NM_207015.3(NAALADL2):c.425T>C (p.Ile142Thr)	NAALADL2, NAALADL2-AS3 (I142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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

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Links from Gene

Items: 27