ClinVar for MedGen (Select 224904) - ClinVar - NCBI

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

Links from MedGen

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161206	NM_000038.6(APC):c.2847G>T (p.Met949Ile)	APC (M931I +12 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 161205	NM_000038.6(APC):c.7778A>G (p.Asn2593Ser)	APC (N2575S +12 more)	Single nucleotide variant (missense variant)	Colorectal cancer +4 more	GConflicting classifications of pathogenicity
Select item 141928	NM_000038.6(APC):c.449A>G (p.Lys150Arg)	APC (K150R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141047	NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)	APC (A2777T +12 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 140839	NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)	APC (C1560G +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 135724	NM_000038.6(APC):c.8266A>G (p.Ile2756Val)	APC (I2756V +12 more)	Single nucleotide variant (missense variant)	APC-Associated Polyposis Disorders +6 more	GConflicting classifications of pathogenicity
Select item 135716	NM_000038.6(APC):c.6985A>G (p.Ile2329Val)	APC (I2329V +12 more)	Single nucleotide variant (missense variant)	APC-Associated Polyposis Disorders +5 more	GConflicting classifications of pathogenicity
Select item 133530	NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)	APC (A1456T +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 133510	NM_000038.6(APC):c.4237A>G (p.Met1413Val)	APC (M1395V +12 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 127295	NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)	APC (K1454E +12 more)	Single nucleotide variant (missense variant)	Familial multiple polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127294	NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)	APC (A1446T +12 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 41536	NM_000038.6(APC):c.7717A>G (p.Ile2573Val)	APC (I2573V +12 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 41503	NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)	APC (T1160K +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +4 more	GConflicting classifications of pathogenicity