C1835398[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	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 +2 more	GConflicting classifications of pathogenicity
Select item 406575	NM_000546.6(TP53):c.1151T>C (p.Met384Thr)	TP53 (M252T +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 183740	NM_000546.6(TP53):c.1149C>T (p.Leu383=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Squamous cell carcinoma of the head and neck +4 more	GBenign/Likely benign
Select item 246221	NM_000546.6(TP53):c.1136G>A (p.Arg379His)	TP53 (R247H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 186762	NM_000546.6(TP53):c.1135C>A (p.Arg379Ser)	TP53 (R247S +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 142003	NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)	TP53 (G228A +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 231485	NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)	TP53 (Q222K +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 220073	NM_000546.6(TP53):c.1023C>T (p.Phe341=)	TP53	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 12379	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53 (R337H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +17 more	GPathogenic/Likely pathogenic
Select item 182969	NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)	TP53 (G202R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 142273	NM_000546.6(TP53):c.998G>A (p.Arg333His)	TP53 (R201H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 182951	NM_000546.6(TP53):c.994-17C>T	TP53	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 182950	NM_000546.6(TP53):c.993+326_993+341del	TP53	Deletion (intron variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 548873	NM_000546.6(TP53):c.993+312_993+314del	TP53 (S214del +3 more)	Microsatellite (inframe_deletion +2 more)	Li-Fraumeni syndrome 1	GLikely benign
Select item 492646	NM_000546.6(TP53):c.993+290T>C	TP53 (C207R +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 492643	NM_000546.6(TP53):c.993+284C>T	TP53 (R205* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 371863	NM_000546.6(TP53):c.993+244G>A	TP53	Single nucleotide variant (3 prime UTR variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign
Select item 371962	NM_000546.6(TP53):c.993+234G>A	TP53	Single nucleotide variant (3 prime UTR variant +1 more)	Li-Fraumeni syndrome 1 +1 more	GLikely benign
Select item 372008	NM_000546.6(TP53):c.993+227A>C	TP53	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 135361	NM_000546.6(TP53):c.993+223T>G	TP53 (C209G +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GBenign/Likely benign
Select item 182949	NM_000546.6(TP53):c.993+13G>C	TP53	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 93325	NM_000546.6(TP53):c.993+12T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +6 more	GBenign/Likely benign
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 141483	NM_000546.6(TP53):c.892G>A (p.Glu298Lys)	TP53 (E166K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 132754	NM_000546.6(TP53):c.885T>C (p.Pro295=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome 1 +5 more	GBenign/Likely benign
Select item 127826	NM_000546.6(TP53):c.877G>T (p.Gly293Trp)	TP53 (G161W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic OOncogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 127823	NM_000546.6(TP53):c.800G>A (p.Arg267Gln)	TP53 (R135Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 245777	NM_000546.6(TP53):c.794T>C (p.Leu265Pro)	TP53 (L133P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 142916	NM_000546.6(TP53):c.787A>G (p.Asn263Asp)	TP53 (N131D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 548875	NM_000546.6(TP53):c.783-13C>G	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +1 more	GLikely benign
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 485034	NM_000546.6(TP53):c.776A>T (p.Asp259Val)	TP53 (D220V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 187222	NM_000546.6(TP53):c.768A>G (p.Thr256=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12347	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	TP53 (R248W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic 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 376579	NM_000546.6(TP53):c.724T>A (p.Cys242Ser)	TP53 (C110S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 127821	NM_000546.6(TP53):c.704A>G (p.Asn235Ser)	TP53 (N103S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 221184	NM_000546.6(TP53):c.673-36G>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +5 more	GBenign
Select item 371964	NM_000546.6(TP53):c.673-37C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 182947	NM_000546.6(TP53):c.672+18G>C	TP53	Single nucleotide variant (intron variant)	not specified +17 more	GBenign/Likely benign
Select item 492583	NM_000546.6(TP53):c.672+15T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +3 more	GLikely benign
Select item 132972	NM_000546.6(TP53):c.666G>T (p.Pro222=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +5 more	GBenign/Likely benign
Select item 161397	NM_000546.6(TP53):c.665C>T (p.Pro222Leu)	TP53 (P183L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +6 more	GConflicting classifications of pathogenicity
Select item 245673	NM_000546.6(TP53):c.655C>T (p.Pro219Ser)	TP53 (P180S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 182965	NM_000546.6(TP53):c.646G>A (p.Val216Met)	TP53 (V177M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376661	NM_000546.6(TP53):c.645T>G (p.Ser215Arg)	TP53 (S176R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 140943	NM_000546.6(TP53):c.642T>G (p.His214Gln)	TP53 (H175Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GConflicting classifications of pathogenicity
Select item 43591	NM_000546.6(TP53):c.639A>G (p.Arg213=)	TP53	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 376686	NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	TP53 (Y166D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376684	NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	TP53 (Y166N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127816	NM_000546.6(TP53):c.572C>G (p.Pro191Arg)	TP53 (P152R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 12382	NM_000546.6(TP53):c.566C>T (p.Ala189Val)	TP53 (A189V +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 141359	NM_000546.6(TP53):c.554G>A (p.Ser185Asn)	TP53 (S146N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 142320	NM_000546.6(TP53):c.542G>A (p.Arg181His)	TP53 (R142H +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +5 more	GConflicting classifications of pathogenicity
Select item 127815	NM_000546.6(TP53):c.535C>T (p.His179Tyr)	TP53 (H140Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 184014	NM_000546.6(TP53):c.509C>T (p.Thr170Met)	TP53 (T131M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 528250	NM_000546.6(TP53):c.499C>T (p.Gln167Ter)	TP53 (Q167* +3 more)	Single nucleotide variant (nonsense)	Adrenocortical carcinoma, hereditary +4 more	GPathogenic/Likely pathogenic
Select item 141963	NM_000546.6(TP53):c.473G>A (p.Arg158His)	TP53 (R119H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 127810	NM_000546.6(TP53):c.466C>T (p.Arg156Cys)	TP53 (R117C +2 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 1 +14 more	GConflicting classifications of pathogenicity
Select item 237950	NM_000546.6(TP53):c.461G>A (p.Gly154Asp)	TP53 (G115D +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 142657	NM_000546.6(TP53):c.427G>A (p.Val143Met)	TP53 (V104M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 185409	NM_000546.6(TP53):c.408A>G (p.Gln136=)	TP53	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 421437	NM_000546.6(TP53):c.399G>A (p.Met133Ile)	TP53 (M133I +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 372074	NM_000546.6(TP53):c.376-18dup	TP53	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 372058	NM_000546.6(TP53):c.375+17G>A	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +2 more	GLikely benign
Select item 183748	NM_000546.6(TP53):c.374C>T (p.Thr125Met)	TP53 (T125M +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GConflicting classifications of pathogenicity OLikely oncogenic
Select item 127808	NM_000546.6(TP53):c.329G>A (p.Arg110His)	TP53 (R110H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 140786	NM_000546.5(TP53):c.319T>C (p.Tyr107His)	TP53 (Y107H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 237946	NM_000546.6(TP53):c.283TCT[1] (p.Ser96del)	TP53 (S57del +1 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 184097	NM_000546.6(TP53):c.255T>C (p.Pro85=)	TP53	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 140833	NM_000546.6(TP53):c.250G>A (p.Ala84Thr)	TP53 (A45T +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 186003	NM_000546.6(TP53):c.249G>A (p.Ala83=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 127805	NM_000546.6(TP53):c.248C>T (p.Ala83Val)	TP53 (A44V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 183835	NM_000546.6(TP53):c.234A>G (p.Ala78=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 184625	NM_000546.6(TP53):c.222C>T (p.Ala74=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 182953	NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)	TP53 (P72C +1 more)	Indel (missense variant)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 142854	NM_000546.6(TP53):c.214C>G (p.Pro72Ala)	TP53 (P33A +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 182922	NM_000546.6(TP53):c.188C>T (p.Ala63Val)	TP53 (A24V +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 185834	NM_000546.6(TP53):c.180A>C (p.Pro60=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 127804	NM_000546.6(TP53):c.173C>G (p.Pro58Arg)	TP53 (P19R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 142863	NM_000546.6(TP53):c.171C>A (p.Asp57Glu)	TP53 (D18E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 216464	NM_000546.6(TP53):c.149T>C (p.Ile50Thr)	TP53 (I11T +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	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 141597	NM_000546.6(TP53):c.107C>A (p.Pro36Gln)	TP53 (P36Q)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 182945	NM_000546.6(TP53):c.97-9C>T	TP53	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 548898	NM_000546.6(TP53):c.97-15T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +1 more	GLikely benign
Select item 371934	NM_000546.6(TP53):c.97-28T>A	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +3 more	GLikely benign
Select item 127827	NM_000546.6(TP53):c.91G>A (p.Val31Ile)	TP53 (V31I)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 372044	NM_000546.6(TP53):c.74+14T>C	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 371949	NM_000546.6(TP53):c.74+9A>C	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 487431	NM_000546.6(TP53):c.38dup (p.Leu14fs)	TP53 (L14fs)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1	GPathogenic/Likely pathogenic
Select item 418693	NM_000546.6(TP53):c.31G>A (p.Glu11Lys)	TP53 (E11K)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 183952	NM_000546.6(TP53):c.30C>T (p.Val10=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +4 more	GBenign/Likely benign
Select item 127806	NM_000546.6(TP53):c.28G>A (p.Val10Ile)	TP53 (V10I)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 237941	NM_000546.6(TP53):c.11C>T (p.Pro4Leu)	TP53 (P4L)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 183836	NM_000546.6(TP53):c.6G>A (p.Glu2=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign

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