C1835398[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 231146	NM_000546.6(TP53):c.1101-1G>A	TP53	Single nucleotide variant (splice acceptor variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 142536	NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	TP53 (R205C +3 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 952204	NM_000546.6(TP53):c.988del (p.Leu330fs)	TP53 (L198fs +3 more)	Deletion (frameshift variant)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 127824	NM_000546.6(TP53):c.847C>T (p.Arg283Cys)	TP53 (R151C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 141228	NM_000546.6(TP53):c.784G>A (p.Gly262Ser)	TP53 (G130S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 184647	NM_000546.6(TP53):c.661G>A (p.Glu221Lys)	TP53 (E182K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GUncertain significance
Select item 41723	NM_000546.6(TP53):c.31G>C (p.Glu11Gln)	TP53 (E11Q)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	NICE approved PARP inhibitor treatment +21 more	GPathogenic