Related gene-specific medical variations for Gene (Select 105369535) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2980929	NM_003105.6(SORL1):c.403-3C>T	LOC105369535, SORL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2915761	NM_003105.6(SORL1):c.516G>A (p.Ala172=)	LOC105369535, SORL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2910301	NM_003105.6(SORL1):c.515C>T (p.Ala172Val)	LOC105369535, SORL1 (A172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775976	NM_003105.6(SORL1):c.406T>C (p.Tyr136His)	LOC105369535, SORL1 (Y136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078422	NM_003105.6(SORL1):c.403-3C>G	LOC105369535, SORL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1972253	NM_003105.6(SORL1):c.426A>T (p.Gly142=)	LOC105369535, SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961816	NM_003105.6(SORL1):c.445T>G (p.Ser149Ala)	LOC105369535, SORL1 (S149A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916582	NM_003105.6(SORL1):c.492C>T (p.Ile164=)	LOC105369535, SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638790	NM_003105.6(SORL1):c.403-18del	LOC105369535, SORL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1599227	NM_003105.6(SORL1):c.528+18C>T	LOC105369535, SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1595481	NM_003105.6(SORL1):c.409G>A (p.Val137Met)	LOC105369535, SORL1 (V137M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1515918	NM_003105.6(SORL1):c.441A>C (p.Lys147Asn)	LOC105369535, SORL1 (K147N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1458680	NM_003105.6(SORL1):c.408C>T (p.Tyr136=)	LOC105369535, SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416916	NM_003105.6(SORL1):c.418G>A (p.Asp140Asn)	LOC105369535, SORL1 (D140N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376438	NM_003105.6(SORL1):c.493G>A (p.Ala165Thr)	LOC105369535, SORL1 (A165T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance