ClinVar for PMC (Select 4863475) - ClinVar - NCBI

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Links from PMC

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1782658	NM_001127511.3(APC):c.-191T>G	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 505522	NM_001127511.3(APC):c.137C>T (p.Thr46Ile)	APC (T46I)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 264670	NM_001127511.3(APC):c.-195A>C	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 243008	NM_001127511.3(APC):c.-190G>A	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 243007	NM_001127511.3(APC):c.-192A>T	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 243006	NM_001127511.3(APC):c.-192A>G	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 243005	NM_001127511.3(APC):c.-191T>C	LOC129994371, APC	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 243004	NM_001127511.2(APC):c.[-125delA;-195A>C]	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Gastric adenocarcinoma and proximal polyposis of the stomach	GPathogenic