ClinVar for MedGen (Select 398651) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148833	NM_000038.6(APC):c.4917A>T (p.Pro1639=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148832	NM_000038.6(APC):c.612A>G (p.Leu204=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148831	NM_000038.6(APC):c.532-20T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148830	NM_000038.6(APC):c.93C>T (p.Ser31=)	APC	Single nucleotide variant (synonymous variant +3 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148829	NM_000038.6(APC):c.1245T>C (p.Ala415=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148825	NM_000038.6(APC):c.2034T>C (p.Ser678=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148824	NM_000038.6(APC):c.2046A>G (p.Gly682=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148823	NM_000038.6(APC):c.1335G>A (p.Gln445=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148822	NM_000038.6(APC):c.1467T>A (p.Thr489=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148821	NM_000038.6(APC):c.1743+9G>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148819	NM_000038.6(APC):c.63A>G (p.Ser21=)	APC	Single nucleotide variant (synonymous variant +3 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148817	NM_000038.6(APC):c.426A>G (p.Ser142=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148815	NM_000038.6(APC):c.1627-10T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148814	NM_000038.6(APC):c.1998A>G (p.Leu666=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148813	NM_000038.6(APC):c.1958+24T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148812	NM_000038.6(APC):c.9A>G (p.Ala3=)	APC	Single nucleotide variant (synonymous variant +3 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148811	NM_000038.6(APC):c.183T>C (p.Ala61=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148808	NM_000038.6(APC):c.3171A>G (p.Glu1057=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148806	NM_000038.6(APC):c.4995T>C (p.Pro1665=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148805	NM_000038.6(APC):c.834+8A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148803	NM_000038.6(APC):c.1958+42A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148802	NM_000038.6(APC):c.1958+27dup	APC	Duplication (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148801	NM_000038.6(APC):c.1320T>C (p.Ala440=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148799	NM_000038.6(APC):c.1312+7T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148798	NM_000038.6(APC):c.615T>A (p.Gly205=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148797	NM_000038.6(APC):c.2442T>C (p.Phe814=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148794	NM_000038.6(APC):c.2022G>A (p.Leu674=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148792	NM_000038.6(APC):c.636A>G (p.Lys212=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 3148791	NM_000038.6(APC):c.423-16delinsTT	APC	Indel (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148790	NM_000038.6(APC):c.423-16_423-15inv	APC	Inversion (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148787	NM_000038.6(APC):c.2199G>A (p.Arg733=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148786	NM_000038.6(APC):c.2154T>C (p.Ile718=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148785	NM_000038.6(APC):c.1410G>A (p.Gly470=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 3148784	NM_000038.6(APC):c.3855T>C (p.Asp1285=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148783	NM_000038.6(APC):c.2445T>C (p.Asn815=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148782	NM_000038.6(APC):c.3372T>C (p.Asn1124=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 3148781	NM_000038.6(APC):c.2946G>C (p.Ser982=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148780	NM_000038.6(APC):c.4953T>C (p.Phe1651=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148779	NM_000038.6(APC):c.1958+43T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148778	NM_000038.6(APC):c.1911G>A (p.Gly637=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148776	NM_000038.6(APC):c.646-10T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148775	NM_000038.6(APC):c.453A>G (p.Glu151=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148773	NM_000038.6(APC):c.816A>G (p.Ala272=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148771	NM_000038.6(APC):c.4458T>C (p.Asp1486=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148770	NM_000038.6(APC):c.646-19G>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148768	NM_000038.6(APC):c.4516C>T (p.Leu1506=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 3148767	NM_000038.6(APC):c.136-11C>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148764	NM_000038.6(APC):c.645+9C>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148763	NM_000038.6(APC):c.4998A>G (p.Pro1666=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148762	NM_000038.6(APC):c.3411T>C (p.Asp1137=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148761	NM_000038.6(APC):c.3405T>C (p.Tyr1135=)	APC	Single nucleotide variant (non-coding transcript variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148760	NM_000038.6(APC):c.2649T>C (p.Thr883=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148759	NM_000038.6(APC):c.2250A>C (p.Pro750=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148758	NM_000038.6(APC):c.1959-7A>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148757	NM_000038.6(APC):c.1959-12A>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148756	NM_000038.6(APC):c.934-4A>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148755	NM_000038.6(APC):c.907A>C (p.Arg303=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148754	NM_000038.6(APC):c.879T>C (p.Ser293=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148753	NM_000038.6(APC):c.835-18A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148752	NM_000038.6(APC):c.1758A>G (p.Lys586=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148751	NM_000038.6(APC):c.1409-7A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148749	NM_000038.6(APC):c.646-14T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148747	NM_000038.6(APC):c.3324T>C (p.Asn1108=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148746	NM_000038.6(APC):c.1958+36G>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148745	NM_000038.6(APC):c.3756T>C (p.Ser1252=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148744	NM_000038.6(APC):c.2661T>C (p.Ile887=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148743	NM_000038.6(APC):c.1105T>C (p.Leu369=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148741	NM_000038.6(APC):c.2436C>T (p.Asp812=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148740	NM_000038.6(APC):c.141A>G (p.Val47=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148739	NM_000038.6(APC):c.3627A>G (p.Glu1209=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148738	NM_000038.6(APC):c.1698T>C (p.Val566=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148737	NM_000038.6(APC):c.646-58_646-16dup	APC	Duplication (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148735	NM_000038.6(APC):c.1401T>C (p.Asn467=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148734	NM_000038.6(APC):c.1428A>G (p.Ala476=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148733	NM_000038.6(APC):c.1958+21del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148732	NM_000038.6(APC):c.1959-18C>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148731	NM_000038.6(APC):c.220+22del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148725	NM_000038.6(APC):c.3693C>A (p.Leu1231=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148671	NM_000038.6(APC):c.4170del (p.Ser1391fs)	APC (S1231fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 3148661	NM_000038.6(APC):c.2781T>C (p.Ala927=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148654	NM_000038.6(APC):c.1149C>T (p.Ala383=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148647	NM_000038.6(APC):c.1409-5A>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148645	NM_000038.6(APC):c.423-7_423-6insC	APC	Insertion (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148644	NM_000038.6(APC):c.1958+26_1958+28delinsCT	APC	Indel (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148643	NM_000038.6(APC):c.1313-9_1313-6dup	APC	Duplication (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148616	NM_000038.6(APC):c.1958+11A>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148601	NM_000038.6(APC):c.955T>C (p.Leu319=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148597	NM_000038.6(APC):c.1359A>C (p.Leu453=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148591	NM_000038.6(APC):c.422+5C>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148566	NM_000038.6(APC):c.1549-10dup	APC	Duplication (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148558	NM_000038.6(APC):c.3759T>A (p.Ser1253=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 3148556	NM_000038.6(APC):c.1744-28_1744-17del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148554	NM_000038.6(APC):c.1737T>A (p.Val579=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148543	NM_000038.6(APC):c.4806T>G (p.Pro1602=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148539	NM_000038.6(APC):c.1409-34_1409-11dup	APC	Duplication (intron variant)	Familial adenomatous polyposis 1	GBenign
Select item 3148532	NM_000038.6(APC):c.3837T>A (p.Ser1279=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3148531	NM_000038.6(APC):c.1408+7C>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148521	NM_000038.6(APC):c.221-8T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148517	NM_000038.6(APC):c.834+8A>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign
Select item 3148514	NM_000038.6(APC):c.423-8_423-7delinsT	APC	Indel (intron variant)	Familial adenomatous polyposis 1	GLikely benign

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