C1835398[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 182952	NM_000546.6(TP53):c.1014C>T (p.Phe338=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 492651	NM_000546.6(TP53):c.993+313G>A	TP53	Single nucleotide variant (synonymous variant +2 more)	TP53-related condition +2 more	GLikely benign
Select item 492645	NM_000546.6(TP53):c.993+287T>C	TP53 (W206R +3 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome 1 +1 more	GLikely benign
Select item 93325	NM_000546.6(TP53):c.993+12T>C	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 652718	NM_000546.6(TP53):c.986C>T (p.Thr329Ile)	TP53 (T329I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 184179	NM_000546.6(TP53):c.903A>G (p.Pro301=)	TP53	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	Astrocytoma, anaplastic +8 more	GPathogenic/Likely pathogenic
Select item 492614	NM_000546.6(TP53):c.783-33T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +3 more	GLikely benign
Select item 492612	NM_000546.6(TP53):c.782+14T>G	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
Select item 1360091	NM_000546.6(TP53):c.774A>C (p.Glu258Asp)	TP53 (E99D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 12347	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	TP53 (R248W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 12365	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	TP53 (G245S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 133420	NM_000546.6(TP53):c.672+31A>G	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 182947	NM_000546.6(TP53):c.672+18G>C	TP53	Single nucleotide variant (intron variant)	not specified +16 more	GBenign/Likely benign
Select item 43591	NM_000546.6(TP53):c.639A>G (p.Arg213=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 184717	NM_000546.6(TP53):c.510G>A (p.Thr170=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 141963	NM_000546.6(TP53):c.473G>A (p.Arg158His)	TP53 (R119H +2 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GPathogenic/Likely pathogenic
Select item 376667	NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	TP53 (T125R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 184097	NM_000546.6(TP53):c.255T>C (p.Pro85=)	TP53	Single nucleotide variant (synonymous variant)	TP53-related condition +5 more	GBenign/Likely benign
Select item 184721	NM_000546.6(TP53):c.246G>A (p.Pro82=)	TP53	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 184372	NM_000546.6(TP53):c.216C>T (p.Pro72=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 132708	NM_000546.6(TP53):c.108G>A (p.Pro36=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +17 more	GBenign/Likely benign
Select item 256604	NM_000546.6(TP53):c.97-29C>A	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 137691	NM_000546.6(TP53):c.74+38C>G	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 372044	NM_000546.6(TP53):c.74+14T>C	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Li-Fraumeni syndrome +5 more	GBenign/Likely benign
Select item 420225	NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)	CHEK2 (K494N +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance

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Items: 27