APC2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2648923	NM_005883.3(APC2):c.12C>T (p.Ser4=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789110	NM_005883.3(APC2):c.17C>T (p.Ala6Val)	APC2 (A6V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2182163	NM_005883.3(APC2):c.18G>A (p.Ala6=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738590	NM_005883.3(APC2):c.24C>T (p.Tyr8=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180274	NM_005883.3(APC2):c.63G>C (p.Glu21Asp)	APC2 (E21D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2280467	NM_005883.3(APC2):c.92A>C (p.Asp31Ala)	APC2 (D31A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414738	NM_005883.3(APC2):c.93C>G (p.Asp31Glu)	APC2 (D31E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2775638	NM_005883.3(APC2):c.129G>A (p.Thr43=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973537	NM_005883.3(APC2):c.132G>A (p.Ser44=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127724	NM_005883.3(APC2):c.134G>C (p.Gly45Ala)	APC2 (G45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1599767	NM_005883.3(APC2):c.141+19G>A	APC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1974971	NM_005883.3(APC2):c.142-20C>T	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972653	NM_005883.3(APC2):c.142-11C>T	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 750035	NM_005883.3(APC2):c.165A>G (p.Gly55=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127728	NM_005883.3(APC2):c.185G>C (p.Arg62Pro)	APC2 (R62P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2131951	NM_005883.3(APC2):c.185G>A (p.Arg62Gln)	APC2 (R62Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699531	NM_005883.3(APC2):c.200C>T (p.Ser67Leu)	APC2 (S67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2017264	NM_005883.3(APC2):c.202G>A (p.Gly68Arg)	APC2 (G68R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621323	NM_005883.3(APC2):c.204G>A (p.Gly68=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741139	NM_005883.3(APC2):c.209C>T (p.Thr70Met)	APC2 (T70M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 721942	NM_005883.3(APC2):c.210G>A (p.Thr70=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155214	NM_005883.3(APC2):c.232+6C>T	APC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710653	NM_005883.3(APC2):c.232+7G>C	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971705	NM_005883.3(APC2):c.232+18C>A	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198813	NM_005883.3(APC2):c.233-11C>T	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 752882	NM_005883.3(APC2):c.233-10G>A	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2172479	NM_005883.3(APC2):c.233-6A>T	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2231294	NM_005883.3(APC2):c.248T>A (p.Ile83Asn)	APC2 (I83N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775468	NM_005883.3(APC2):c.256C>T (p.Leu86=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 591010	NM_005883.3(APC2):c.267_268delinsAG (p.Lys90Glu)	APC2 (K90E)	Indel (missense variant)	not provided	GUncertain significance
Select item 3306288	NM_005883.3(APC2):c.275A>G (p.Gln92Arg)	APC2 (Q92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524043	NM_005883.3(APC2):c.278C>T (p.Pro93Leu)	APC2 (P93L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2011139	NM_005883.3(APC2):c.288G>A (p.Leu96=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738460	NM_005883.3(APC2):c.293C>T (p.Pro98Leu)	APC2 (P98L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727367	NM_005883.3(APC2):c.294G>A (p.Pro98=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098372	NM_005883.3(APC2):c.297G>A (p.Glu99=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743370	NM_005883.3(APC2):c.303C>T (p.Ala101=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027223	NM_005883.3(APC2):c.307C>T (p.Arg103Trp)	APC2 (R103W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221073	NM_005883.3(APC2):c.314C>T (p.Pro105Leu)	APC2 (P105L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343572	NM_005883.3(APC2):c.322A>C (p.Ser108Arg)	APC2 (S108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 591864	NM_005883.3(APC2):c.322_323inv (p.Ser108Leu)	APC2 (S108L)	Inversion (missense variant)	Cortical dysplasia, complex, with other brain malformations 10 +1 more	GUncertain significance
Select item 2343573	NM_005883.3(APC2):c.323G>T (p.Ser108Ile)	APC2 (S108I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2794653	NM_005883.3(APC2):c.332A>G (p.His111Arg)	APC2 (H111R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786663	NM_005883.3(APC2):c.334G>A (p.Gly112Ser)	APC2 (G112S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1974407	NM_005883.3(APC2):c.340G>A (p.Gly114Arg)	APC2 (G114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2235348	NM_005883.3(APC2):c.373C>T (p.Arg125Trp)	APC2 (R125W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2126162	NM_005883.3(APC2):c.374G>A (p.Arg125Gln)	APC2 (R125Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713335	NM_005883.3(APC2):c.377C>G (p.Ala126Gly)	APC2 (A126G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255193	NM_005883.3(APC2):c.409del (p.Glu137fs)	APC2 (E137fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal recessive 74	GLikely pathogenic
Select item 2053571	NM_005883.3(APC2):c.407G>A (p.Arg136Gln)	APC2 (R136Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2071026	NM_005883.3(APC2):c.413+11G>A	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806520	NM_005883.3(APC2):c.413+15G>A	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185403	NM_005883.3(APC2):c.413+95T>C	APC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 713027	NM_005883.3(APC2):c.419T>C (p.Phe140Ser)	APC2 (F140S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2883332	NM_005883.3(APC2):c.429T>C (p.Asn143=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056888	NM_005883.3(APC2):c.471T>G (p.Ser157=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related disorder	GLikely benign
Select item 2044497	NM_005883.3(APC2):c.481G>C (p.Gly161Arg)	APC2 (G161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672731	NM_005883.3(APC2):c.483C>T (p.Gly161=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2418264	NM_005883.3(APC2):c.489C>T (p.Ser163=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127746	NM_005883.3(APC2):c.494G>A (p.Arg165His)	APC2 (R165H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2799603	NM_005883.3(APC2):c.501C>T (p.Asp167=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734726	NM_005883.3(APC2):c.510G>A (p.Pro170=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614419	NM_005883.3(APC2):c.512A>C (p.His171Pro)	APC2 (H171P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1974912	NM_005883.3(APC2):c.522+8G>T	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2501917	NM_005883.3(APC2):c.564G>C (p.Glu188Asp)	APC2 (E187D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076002	NM_005883.3(APC2):c.564G>A (p.Glu188=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028957	NM_005883.3(APC2):c.583C>T (p.Arg195Cys)	APC2 (R195C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74	GUncertain significance
Select item 1660904	NM_005883.3(APC2):c.679C>T (p.Leu227=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724118	NM_005883.3(APC2):c.684G>A (p.Glu228=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043996	NM_005883.3(APC2):c.687G>A (p.Ala229=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 753647	NM_005883.3(APC2):c.687G>T (p.Ala229=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648924	NM_005883.3(APC2):c.697G>A (p.Val233Met)	APC2 (V232M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2300686	NM_005883.3(APC2):c.704A>C (p.Gln235Pro)	APC2 (Q234P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064362	NM_005883.3(APC2):c.717+5C>T	APC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2870051	NM_005883.3(APC2):c.717+9T>G	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814172	NM_005883.3(APC2):c.717+14C>A	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026014	NM_005883.3(APC2):c.718-16G>C	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095941	NM_005883.3(APC2):c.729G>A (p.Ala243=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127763	NM_005883.3(APC2):c.730G>A (p.Val244Met)	APC2 (V243M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 694622	NM_005883.3(APC2):c.737C>A (p.Ser246Ter)	APC2 (S246* +1 more)	Single nucleotide variant (nonsense)	Cortical dysplasia, complex, with other brain malformations 10	GPathogenic
Select item 2444253	NM_005883.3(APC2):c.759dup (p.Glu254fs)	APC2 (E253fs +1 more)	Duplication (frameshift variant)	Cortical dysplasia, complex, with other brain malformations 10	GLikely pathogenic
Select item 1033037	NM_005883.3(APC2):c.757C>T (p.Pro253Ser)	APC2 (P252S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74	GUncertain significance
Select item 2118102	NM_005883.3(APC2):c.769G>A (p.Val257Ile)	APC2 (V256I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747055	NM_005883.3(APC2):c.781C>G (p.Pro261Ala)	APC2 (P261A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2278132	NM_005883.3(APC2):c.794C>T (p.Thr265Ile)	APC2 (T264I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2077860	NM_005883.3(APC2):c.796C>T (p.Pro266Ser)	APC2 (P266S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033038	NM_005883.3(APC2):c.796C>A (p.Pro266Thr)	APC2 (P266T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74 +2 more	GUncertain significance
Select item 2873041	NM_005883.3(APC2):c.804G>A (p.Pro268=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067239	NM_005883.3(APC2):c.810C>T (p.Asn270=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877140	NM_005883.3(APC2):c.816+9dup	APC2	Duplication (intron variant)	not provided	GBenign
Select item 2811407	NM_005883.3(APC2):c.816+13del	APC2	Deletion (intron variant)	not provided	GLikely benign
Select item 2111240	NM_005883.3(APC2):c.816+20G>A	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2054648	NM_005883.3(APC2):c.817-18A>G	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2197449	NM_005883.3(APC2):c.817-8C>T	APC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017573	NM_005883.3(APC2):c.819G>T (p.Val273=)	APC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3306268	NM_005883.3(APC2):c.824T>C (p.Val275Ala)	APC2 (V274A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631902	NM_005883.3(APC2):c.849G>A (p.Leu283=)	APC2	Single nucleotide variant (synonymous variant)	APC2-related disorder	GUncertain significance
Select item 2247086	NM_005883.3(APC2):c.857G>A (p.Arg286His)	APC2 (R285H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049873	NM_005883.3(APC2):c.863A>G (p.Gln288Arg)	APC2 (Q288R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002662	NM_005883.3(APC2):c.877C>T (p.Arg293Cys)	APC2 (R292C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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