C0346629[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +26 more	GPathogenic/Likely pathogenic
Select item 822	NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	APC (I1307K +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity; association; risk factor
Select item 127447	NM_000051.4(ATM):c.7630-2A>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Colorectal cancer +4 more	GPathogenic
Select item 221000	NM_006231.4(POLE):c.861T>A (p.Asp287Glu)	POLE (D287E)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 224588	NM_006231.4(POLE):c.844C>T (p.Pro282Ser)	POLE (P282S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 182006	NM_004655.4(AXIN2):c.1651T>C (p.Cys551Arg)	AXIN2 (C551R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 239244	NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)	POLD1 (R521Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 128063	NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)	CHEK2 (P509S +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 128060	NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	CHEK2 (T476M +4 more)	Single nucleotide variant (missense variant)	CHEK2-related cancer predisposition +9 more	GConflicting classifications of pathogenicity
Select item 182436	NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)	CHEK2 (S422N +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 128053	NM_007194.4(CHEK2):c.1263del (p.Ser422fs)	CHEK2 (S355fs +4 more)	Deletion (frameshift variant)	CHEK2-related cancer predisposition +10 more	GPathogenic/Likely pathogenic
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
Select item 5591	NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	CHEK2 (I157T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +14 more	GConflicting classifications of pathogenicity; risk factor
Select item 128075	NM_007194.4(CHEK2):c.444+1G>A	CHEK2	Single nucleotide variant (splice donor variant)	Inherited breast cancer and ovarian cancer +12 more	GPathogenic/Likely pathogenic
Select item 128071	NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	CHEK2 (R117G +1 more)	Single nucleotide variant (missense variant +1 more)	CHEK2-related cancer predisposition +14 more	GPathogenic/Likely pathogenic
Select item 140772	NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	CHEK2 (R95*)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +8 more	GPathogenic