"GeneDx"[submitter] AND "SORL1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 426729	NM_003105.6(SORL1):c.314T>C (p.Met105Thr)	SORL1 (M105T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450092	NM_003105.6(SORL1):c.2401T>C (p.Cys801Arg)	LOC114803469, SORL1 (C801R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320786	NM_003105.6(SORL1):c.3261C>G (p.Asn1087Lys)	LOC130006953, SORL1 (N1087K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317133	NM_003105.6(SORL1):c.3919G>A (p.Asp1307Asn)	SORL1 (D1307N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385183	NM_003105.6(SORL1):c.4303A>T (p.Thr1435Ser)	SORL1 (T1435S)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1148912	NM_003105.6(SORL1):c.4360C>T (p.Pro1454Ser)	SORL1 (P1454S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1315667	NM_003105.6(SORL1):c.4556T>A (p.Phe1519Tyr)	SORL1 (F1519Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426480	NM_003105.6(SORL1):c.5806C>T (p.Arg1936Cys)	SORL1 (R1936C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209903	NM_003105.6(SORL1):c.5899G>A (p.Val1967Ile)	SORL1 (V1967I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253740	GRCh37/hg19 11q23.3-24.1(chr11:120959042-121501131)x3	TECTA, TBCEL +2 more	Copy number gain	See cases	GUncertain significance
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic