PTEN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	LOC111982877, LOC111982878 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	LOC130004268, LOC130004269 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 523155	GRCh38/hg38 10q23.31(chr10:87830830-88617225)x1	LOC130004269, LOC130004270 +23 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 1337289	NM_001126049.2(KLLN):c.518A>G (p.Lys173Arg)	KLLN, PTEN (K173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337818	NM_001126049.2(KLLN):c.445T>A (p.Trp149Arg)	KLLN, PTEN (W149R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1337856	NM_001126049.2(KLLN):c.392A>G (p.Asn131Ser)	KLLN, PTEN (N131S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1337567	NM_001126049.2(KLLN):c.384C>T (p.Arg128=)	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1174734	NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly)	KLLN, PTEN (R128G)	Single nucleotide variant (missense variant)	KLLN-related condition +2 more	GBenign
Select item 1336143	NM_001126049.2(KLLN):c.342_343del (p.Ala115fs)	KLLN, PTEN (A115fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 717443	NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)	KLLN, PTEN (A115fs)	Deletion (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1336732	NM_001126049.2(KLLN):c.235C>A (p.Pro79Thr)	KLLN, PTEN (P79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336731	NM_001126049.2(KLLN):c.234C>A (p.Leu78=)	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1338182	NM_001126049.2(KLLN):c.204C>T (p.Ser68=)	KLLN, LOC130004271 +1 more	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1338012	NM_001126049.2(KLLN):c.131G>C (p.Gly44Ala)	KLLN, PTEN (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337958	NM_001126049.2(KLLN):c.130G>C (p.Gly44Arg)	KLLN, PTEN (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337428	NM_001126049.2(KLLN):c.66T>A (p.Val22=)	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1337427	NM_001126049.2(KLLN):c.65T>A (p.Val22Asp)	KLLN, PTEN (V22D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1337087	NM_001126049.2(KLLN):c.58T>C (p.Tyr20His)	KLLN, PTEN (Y20H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1337086	NM_001126049.2(KLLN):c.57T>C (p.Gly19=)	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1337796	NM_001126049.2(KLLN):c.17C>T (p.Pro6Leu)	KLLN, PTEN (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 189461	NM_001126049.2(KLLN):c.-641C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488770	NM_001126049.2(KLLN):c.-644A>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488849	NM_001126049.2(KLLN):c.-647C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503507	NM_001126049.2(KLLN):c.-652T>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 503638	NM_001126049.2(KLLN):c.-658G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488905	NM_001126049.2(KLLN):c.-661G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 127667	NM_001126049.2(KLLN):c.-671A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 488761	NM_001126049.2(KLLN):c.-672G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 583889	NC_000010.10:g.(?_89622918)_(89624325_?)dup	KLLN, LOC130004273 +2 more	Duplication	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 488860	NM_001126049.2(KLLN):c.-675G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 439287	NM_001126049.2(KLLN):c.-677A>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 488886	NM_001126049.2(KLLN):c.-681A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 584299	NC_000010.11:g.(?_87863171)_(87864558_?)del	KLLN, LOC130004273 +2 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 488783	NM_001126049.2(KLLN):c.-684A>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488754	NM_001126049.2(KLLN):c.-687C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488713	NM_001126049.2(KLLN):c.-689G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234639	NM_001126049.2(KLLN):c.-692G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 801274	NM_001126049.2(KLLN):c.-695dup	KLLN, PTEN	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 488910	NM_001126049.2(KLLN):c.-695G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 141821	NM_001126049.2(KLLN):c.-695G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1768975	NM_001126049.2(KLLN):c.-696G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818802	NM_001126049.2(KLLN):c.-697G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818794	NM_001126049.2(KLLN):c.-698G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767362	NM_001126049.2(KLLN):c.-701dup	KLLN, PTEN	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488901	NM_001126049.2(KLLN):c.-701G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1767308	NM_001126049.2(KLLN):c.-703G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488934	NM_001126049.2(KLLN):c.-707T>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 503639	NM_001126049.2(KLLN):c.-716G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 492717	NM_001126049.2(KLLN):c.-720C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 818721	NM_001126049.2(KLLN):c.-721G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141062	NM_001126049.2(KLLN):c.-726C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1771406	NM_000314.4(PTEN):c.-1032-222_-366del889	KLLN, LOC130004273 +2 more	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 189445	NM_001126049.2(KLLN):c.-733dup	KLLN, PTEN	Duplication (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 488964	NM_001126049.2(KLLN):c.-736G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Malignant tumor of prostate +7 more	GUncertain significance
Select item 818681	NM_001126049.2(KLLN):c.-738del	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127666	NM_001126049.2(KLLN):c.-739C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN-related condition +2 more	GUncertain significance
Select item 189522	NM_000314.4(PTEN):c.-1242G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 488776	NM_001126049.2(KLLN):c.-742T>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 818672	NM_001126049.2(KLLN):c.-745C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818671	NM_001126049.2(KLLN):c.-745C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186644	NM_001126049.2(KLLN):c.-747G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127665	NM_001126049.2(KLLN):c.-747G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 234894	NM_001126049.2(KLLN):c.-748G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 4 +1 more	GUncertain significance
Select item 189526	NM_001126049.2(KLLN):c.-748G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1755736	NM_001126049.2(KLLN):c.-751C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488867	NM_001126049.2(KLLN):c.-756T>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488868	NM_001126049.2(KLLN):c.-758G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2682053	NM_001126049.2(KLLN):c.-759del	KLLN, PTEN	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 488935	NM_001126049.2(KLLN):c.-760del	KLLN, PTEN	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 488954	NM_001126049.2(KLLN):c.-761C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488773	NM_001126049.2(KLLN):c.-761C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 186991	NM_001126049.2(KLLN):c.-766G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142999	NM_001126049.2(KLLN):c.-768A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488850	NM_001126049.2(KLLN):c.-770C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1750483	NM_001126049.2(KLLN):c.-771G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 189521	NM_001126049.2(KLLN):c.-772G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 189469	NM_001126049.2(KLLN):c.-774G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234396	NM_001126049.2(KLLN):c.-775C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488714	NM_001126049.2(KLLN):c.-776G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488715	NM_001126049.2(KLLN):c.-777C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GUncertain significance
Select item 234473	NM_001126049.2(KLLN):c.-780C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 189433	NM_001126049.2(KLLN):c.-794_-783del	KLLN, PTEN	Deletion (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 1746231	NM_001126049.2(KLLN):c.-785T>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488900	NM_001126049.2(KLLN):c.-790G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 142982	NM_001126049.2(KLLN):c.-797TGC[1]	KLLN, PTEN	Microsatellite (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127663	NM_001126049.2(KLLN):c.-792C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 1192233	NM_001126049.2(KLLN):c.-801C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 818504	NM_001126049.2(KLLN):c.-817_-801del	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488716	NM_001126049.2(KLLN):c.-801C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503748	NM_001126049.2(KLLN):c.-804_-803delinsAA	KLLN, PTEN	Indel (5 prime UTR variant)	not provided	GUncertain significance
Select item 142652	NM_001126049.2(KLLN):c.-803T>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142844	NM_001126049.2(KLLN):c.-806A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 1337509	NM_001126049.2(KLLN):c.-808G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 488939	NM_001126049.2(KLLN):c.-808G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	KLLN-related condition +1 more	GConflicting classifications of pathogenicity
Select item 488866	NM_001126049.2(KLLN):c.-809T>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1739946	NM_001126049.2(KLLN):c.-810C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488786	NM_001126049.2(KLLN):c.-810C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 141170	NM_001126049.2(KLLN):c.-810C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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