C0265227[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326724	NM_015559.3(SETBP1):c.141G>A (p.Gly47=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 159884	NM_015559.3(SETBP1):c.540+7405G>A	SETBP1 (A222T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 326726	NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg)	SETBP1 (G229R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 159885	NM_015559.3(SETBP1):c.691G>C (p.Val231Leu)	SETBP1 (V231L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 326734	NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile)	SETBP1 (T346I)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +2 more	GBenign/Likely benign
Select item 326736	NM_015559.3(SETBP1):c.1158C>T (p.Asn386=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 159867	NM_015559.3(SETBP1):c.1170C>T (p.Ala390=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +2 more	GBenign
Select item 1250265	NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu)	SETBP1 (P497L)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 326740	NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 326747	NM_015559.3(SETBP1):c.2607C>T (p.Ser869=)	SETBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 159872	NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile)	SETBP1 (V1101I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159873	NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr)	SETBP1 (P1130T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 326752	NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 326753	NM_015559.3(SETBP1):c.3618T>C (p.His1206=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +3 more	GBenign/Likely benign
Select item 326754	NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +1 more	GLikely benign
Select item 159875	NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=)	SETBP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 29 +3 more	GBenign
Select item 1294470	NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met)	SETBP1 (V1295M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 159877	NM_015559.3(SETBP1):c.4000+10T>A	SETBP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 159878	NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu)	SETBP1 (V1377L)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +2 more	GBenign
Select item 326761	NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +1 more	GBenign/Likely benign
Select item 159880	NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp)	SETBP1 (E1466D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21