C1835398[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35555	NM_000546.6(TP53):c.*1175A>C	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 325619	NM_000546.6(TP53):c.*1160T>G	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 889286	NM_000546.6(TP53):c.*1132C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 325620	NM_000546.6(TP53):c.*1070C>T	TP53	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 325622	NM_000546.6(TP53):c.*936A>G	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GLikely benign
Select item 325623	NM_000546.6(TP53):c.*826G>A	TP53	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 325625	NM_000546.6(TP53):c.*790G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325627	NM_000546.6(TP53):c.*773C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GBenign
Select item 889967	NM_000546.6(TP53):c.*761T>C	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 889968	NM_000546.6(TP53):c.*760T>C	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325629	NM_000546.6(TP53):c.*754C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325632	NM_000546.6(TP53):c.*626C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325633	NM_000546.6(TP53):c.*613C>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GBenign
Select item 325637	NM_000546.6(TP53):c.*485G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1 +2 more	GBenign
Select item 891532	NM_000546.6(TP53):c.*409C>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GLikely benign
Select item 891533	NM_000546.6(TP53):c.*357T>C	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GLikely benign
Select item 891534	NM_000546.6(TP53):c.*328G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GBenign
Select item 325641	NM_000546.6(TP53):c.*327C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325642	NM_000546.6(TP53):c.*205G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GBenign
Select item 891535	NM_000546.6(TP53):c.*168C>T	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 891780	NM_000546.6(TP53):c.*144G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325643	NM_000546.6(TP53):c.*99G>A	TP53	Single nucleotide variant (3 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 80708	NM_000546.6(TP53):c.1093C>T (p.His365Tyr)	TP53 (H233Y +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 142846	NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)	TP53 (E207K +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182952	NM_000546.6(TP53):c.1014C>T (p.Phe338=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +5 more	GBenign/Likely 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 414029	NM_000546.6(TP53):c.993+8G>A	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 141102	NM_000546.6(TP53):c.935C>G (p.Thr312Ser)	TP53 (T180S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +8 more	GPathogenic/Likely pathogenic
Select item 182948	NM_000546.6(TP53):c.782+12C>T	TP53	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 43591	NM_000546.6(TP53):c.639A>G (p.Arg213=)	TP53	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 2572992	NM_000546.6(TP53):c.318dup (p.Tyr107fs)	TP53 (Y107fs +1 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 12351	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	TP53 (P72R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +16 more	GBenign
Select item 186363	NM_000546.6(TP53):c.145G>A (p.Asp49Asn)	TP53 (D10N +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 135948	NM_000546.6(TP53):c.145G>C (p.Asp49His)	TP53 (D10H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 43588	NM_000546.6(TP53):c.139C>T (p.Pro47Ser)	TP53 (P47S +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 132708	NM_000546.6(TP53):c.108G>A (p.Pro36=)	TP53	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +17 more	GBenign/Likely benign
Select item 379265	NM_000546.6(TP53):c.96+15T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127827	NM_000546.6(TP53):c.91G>A (p.Val31Ile)	TP53 (V31I)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 371949	NM_000546.6(TP53):c.74+9A>C	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41723	NM_000546.6(TP53):c.31G>C (p.Glu11Gln)	TP53 (E11Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 414037	NM_000546.6(TP53):c.18A>G (p.Ser6=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +4 more	GLikely benign
Select item 890038	NM_000546.6(TP53):c.-22G>A	TP53	Single nucleotide variant (5 prime UTR variant)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 325645	NM_000546.6(TP53):c.-94C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome 1 +1 more	GUncertain significance
Select item 325646	NM_000546.6(TP53):c.-102C>G	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome 1 +1 more	GUncertain significance
Select item 891589	NM_000546.6(TP53):c.-123C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Colorectal cancer +19 more	GPathogenic
Select item 5592	NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	CHEK2 (R145W +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +6 more	GLikely pathogenic

ClinVar

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Items: 49