10297[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 2648922	NC_000019.10:g.1450086C>T	APC2, LOC130062952	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
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 221537	GRCh38/hg38 19p13.3(chr19:1453072-1481984)x1	APC2, C19orf25 +9 more	Copy number loss	Breast ductal adenocarcinoma	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 3377715	NM_005883.3(APC2):c.141+6G>A	APC2	Single nucleotide variant (intron variant)	Cortical dysplasia, complex, with other brain malformations 10	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 3374903	NM_005883.3(APC2):c.439A>G (p.Lys147Glu)	APC2 (K147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1971943	NM_005883.3(APC2):c.523-15G>T	APC2, LOC130062953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872969	NM_005883.3(APC2):c.523-13C>T	APC2, LOC130062953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973097	NM_005883.3(APC2):c.523-7T>C	APC2, LOC130062953	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977215	NM_005883.3(APC2):c.530C>T (p.Ser177Leu)	APC2, LOC130062953 (S176L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2243146	NM_005883.3(APC2):c.599A>G (p.Glu200Gly)	APC2, LOC130062954 (E199G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2106512	NM_005883.3(APC2):c.614C>G (p.Ser205Trp)	APC2, LOC130062954 (S204W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973394	NM_005883.3(APC2):c.639+18dup	APC2, LOC130062954	Duplication (intron variant)	not provided	GBenign
Select item 2868288	NM_005883.3(APC2):c.640-20C>A	APC2, LOC130062955	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872330	NM_005883.3(APC2):c.640-17C>G	APC2, LOC130062955	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985033	NM_005883.3(APC2):c.640-9C>T	APC2, LOC130062955	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3127760	NM_005883.3(APC2):c.640A>G (p.Ile214Val)	APC2, LOC130062955 (I214V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620629	NM_005883.3(APC2):c.647C>T (p.Ala216Val)	APC2, LOC130062955 (A216V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 916556	NM_005883.3(APC2):c.665T>C (p.Ile222Thr)	APC2, LOC130062955 (I221T +1 more)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 1707081	NM_005883.3(APC2):c.676C>A (p.Leu226Met)	APC2, LOC130062955 (L225M +1 more)	Single nucleotide variant (missense variant)	not provided	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

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