"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SORL1"[gen - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2642469	NM_003105.6(SORL1):c.528+2499T>A	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642470	NM_003105.6(SORL1):c.528+2503G>A	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642471	NM_003105.6(SORL1):c.528+2656A>G	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642472	NM_003105.6(SORL1):c.528+2896T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642473	NM_003105.6(SORL1):c.528+3213T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642474	NM_003105.6(SORL1):c.528+3267T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642475	NM_003105.6(SORL1):c.528+3290T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694652	NM_003105.6(SORL1):c.528+3528G>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642476	NM_003105.6(SORL1):c.528+3773A>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642477	NM_003105.6(SORL1):c.552C>T (p.Ala184=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1209973	NM_003105.6(SORL1):c.808G>A (p.Glu270Lys)	SORL1 (E270K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 717155	NM_003105.6(SORL1):c.1112A>C (p.Asn371Thr)	SORL1 (N371T)	Single nucleotide variant (missense variant)	SORL1-related condition +1 more	GBenign/Likely benign
Select item 2642478	NM_003105.6(SORL1):c.1201A>C (p.Thr401Pro)	SORL1 (T401P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176926	NM_003105.6(SORL1):c.1763C>T (p.Thr588Ile)	SORL1 (T588I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1612267	NM_003105.6(SORL1):c.2834G>A (p.Arg945Gln)	SORL1 (R945Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1470755	NM_003105.6(SORL1):c.3005C>T (p.Thr1002Met)	SORL1 (T1002M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708123	NM_003105.6(SORL1):c.3295T>C (p.Phe1099Leu)	LOC130006953, SORL1 (F1099L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1167437	NM_003105.6(SORL1):c.3346A>G (p.Ile1116Val)	SORL1 (I1116V)	Single nucleotide variant (missense variant)	SORL1-related condition +1 more	GBenign/Likely benign
Select item 1475391	NM_003105.6(SORL1):c.4077C>T (p.Cys1359=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 775094	NM_003105.6(SORL1):c.5439T>A (p.His1813Gln)	SORL1 (H1813Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715825	NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2080699	NM_003105.6(SORL1):c.5627C>T (p.Thr1876Met)	SORL1 (T1876M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1952279	NM_003105.6(SORL1):c.5643C>T (p.Leu1881=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778073	NM_003105.6(SORL1):c.6021A>G (p.Gln2007=)	SORL1	Single nucleotide variant (synonymous variant)	SORL1-related condition +1 more	GBenign/Likely benign
Select item 1012595	NM_003105.6(SORL1):c.6194A>T (p.Asp2065Val)	SORL1 (D2065V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1375592	NM_003105.6(SORL1):c.6401C>T (p.Thr2134Met)	SORL1 (T2134M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2642479	NM_003105.6(SORL1):c.6546G>T (p.Gly2182=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 27