ClinVar for Gene (Select 5728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372886	NM_000314.6(PTEN):c.-904C>T	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 3372634	NM_000314.8(PTEN):c.32G>C (p.Arg11Thr)	PTEN (R11T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371163	NM_000314.8(PTEN):c.832T>C (p.Phe278Leu)	PTEN (F278L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370850	NM_000314.8(PTEN):c.840A>G (p.Ile280Met)	PTEN (I280M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370722	NM_000314.8(PTEN):c.817T>A (p.Phe273Ile)	PTEN (F273I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369977	NM_000314.6(PTEN):c.-916G>T	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 3369167	NM_000314.6(PTEN):c.-914G>A	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 3367963	NM_000314.6(PTEN):c.-849G>T	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 3366604	NM_000314.8(PTEN):c.-1240G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3366332	NM_000314.8(PTEN):c.-1217C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3363444	NM_000314.8(PTEN):c.-39TC[3]	PTEN (S163fs)	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3361877	NM_000314.8(PTEN):c.*4T>A	PTEN	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 3358543	NM_000314.8(PTEN):c.-438T>C	PTEN (I28T)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 3357545	NM_000314.8(PTEN):c.67_68insG	PTEN	Insertion (3 prime UTR variant)	PTEN-related disorder	GUncertain significance
Select item 3355529	NM_000314.8(PTEN):c.-252T>C	PTEN (S90P)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 3354440	NC_000010.11:g.87863409C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder	GLikely benign
Select item 3354213	NM_000314.8(PTEN):c.-254C>T	PTEN (S89L)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GUncertain significance
Select item 3345950	NM_000314.8(PTEN):c.165-3A>C	PTEN	Single nucleotide variant (intron variant)	PTEN-related disorder	GLikely benign
Select item 3345288	NM_000314.8(PTEN):c.1024_1026del (p.Lys342del)	PTEN (K145del +2 more)	Deletion (inframe_deletion)	PTEN-related disorder	GUncertain significance
Select item 3340638	NM_000314.8(PTEN):c.22A>G (p.Ile8Val)	PTEN (I181V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340562	NM_000314.8(PTEN):c.-153T>C	PTEN (Y123H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3340277	NM_000314.8(PTEN):c.1A>C (p.Met1Leu)	PTEN (M174L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 3340239	NM_000314.8(PTEN):c.-842C>T	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3340217	NM_000314.8(PTEN):c.410C>A (p.Ala137Glu)	PTEN (A137E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3340045	NM_000314.8(PTEN):c.-1223C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3339548	NM_000314.8(PTEN):c.-1002C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3338761	NM_000314.8(PTEN):c.62T>C (p.Phe21Ser)	PTEN (F194S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3337498	NM_000314.8(PTEN):c.193T>G (p.Tyr65Asp)	PTEN (Y65D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3311269	NM_000314.8(PTEN):c.788del (p.Lys263fs)	PTEN (K263fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3311267	NM_000314.8(PTEN):c.757A>G (p.Ile253Val)	PTEN (I56V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311266	NM_000314.8(PTEN):c.1066A>C (p.Asn356His)	PTEN (N529H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311265	NM_000314.8(PTEN):c.658C>G (p.Leu220Val)	PTEN (L393V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311263	NM_000314.8(PTEN):c.9C>G (p.Ala3=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3311262	NM_000314.8(PTEN):c.1062G>C (p.Pro354=)	PTEN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3311261	NM_000314.8(PTEN):c.679T>A (p.Ser227Thr)	PTEN (S30T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311260	NM_000314.8(PTEN):c.347A>C (p.Asp116Ala)	PTEN (D116A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311259	NM_000314.8(PTEN):c.85_99del (p.Tyr29_Ile33del)	PTEN	Deletion (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3311258	NM_000314.8(PTEN):c.163del (p.Arg55fs)	PTEN (R228fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3311257	NM_000314.8(PTEN):c.618C>G (p.Phe206Leu)	PTEN (F206L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311256	NM_000314.8(PTEN):c.1097C>T (p.Thr366Ile)	PTEN (T539I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311255	NM_000314.8(PTEN):c.332_336delinsCTTCAC (p.Trp111fs)	PTEN (W111fs +1 more)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3311254	NM_000314.8(PTEN):c.236C>A (p.Ala79Asp)	PTEN (A252D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311253	NM_000314.8(PTEN):c.300T>C (p.Leu100=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3311252	NM_000314.8(PTEN):c.209+2009A>G	PTEN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311251	NM_000314.8(PTEN):c.801+4T>G	PTEN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311246	NM_000314.8(PTEN):c.297A>G (p.Glu99=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3311245	NM_000314.8(PTEN):c.292C>T (p.Leu98=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3257940	NM_000314.8(PTEN):c.1096A>C (p.Thr366Pro)	PTEN (T366P +2 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257939	NM_000314.8(PTEN):c.797A>G (p.Lys266Arg)	PTEN (K439R +2 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257938	NM_000314.8(PTEN):c.710del (p.Lys237fs)	PTEN (K237fs +2 more)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3257937	NM_000314.8(PTEN):c.526T>C (p.Tyr176His)	PTEN (Y176H +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3257935	NM_000314.8(PTEN):c.474_492+1del	PTEN	Deletion (splice donor variant)	Neoplasm	OLikely oncogenic
Select item 3257934	NM_000314.8(PTEN):c.271dup (p.Glu91fs)	PTEN (E91fs +1 more)	Duplication (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3257932	NM_000314.8(PTEN):c.69_70insAGAAACCACT (p.Asp24delinsArgAsnHisTer)	PTEN	Insertion (nonsense +1 more)	Neoplasm	OLikely oncogenic
Select item 3257759	NM_000314.8(PTEN):c.976_991delinsAAA	PTEN (D129fs +5 more)	Deletion (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3256748	NM_000314.8(PTEN):c.356T>C (p.Val119Ala)	PTEN (V119A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial meningioma	GLikely pathogenic
Select item 3256503	NM_000314.8(PTEN):c.493-34dup	PTEN	Duplication (intron variant)	not specified	GLikely benign
Select item 3256502	NM_000314.8(PTEN):c.301_324dup (p.Leu108_Asp109insIleLysProPheCysGluAspLeu)	PTEN	Duplication (inframe_insertion +1 more)	not specified	GUncertain significance
Select item 3256501	NM_000314.8(PTEN):c.210-42T>C	PTEN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3254879	NM_000314.8(PTEN):c.14T>C (p.Ile5Thr)	PTEN (I178T +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 3254364	NM_000314.8(PTEN):c.265_266del (p.Pro89fs)	PTEN (P262fs +1 more)	Deletion (frameshift variant +1 more)	Cowden syndrome 1	GPathogenic
Select item 3253488	NM_000314.6(PTEN):c.-849G>C	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 3252413	NM_000314.6(PTEN):c.-847T>G	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 3252156	NM_000314.6(PTEN):c.-863T>G	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 3251580	NM_000314.8(PTEN):c.-1060C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3250363	NM_000314.8(PTEN):c.226dup (p.Tyr76fs)	PTEN (Y249fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly-autism syndrome	GPathogenic
Select item 3244887	NC_000010.10:g.(?_88514773)_(89725229_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3244886	NC_000010.10:g.(?_89671794)_(89711969_?)del	PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3244885	NC_000010.10:g.(?_89720519)_(89720783_?)del	PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3244884	NC_000010.10:g.(?_89621800)_(89653876_?)dup	KLLN, PTEN	Duplication	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3244883	NC_000010.10:g.(?_89717600)_(89717786_?)dup	PTEN	Duplication	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3244881	NC_000010.10:g.(?_89653772)_(89653876_?)dup	PTEN	Duplication	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3244880	NC_000010.10:g.(?_89720641)_(89725321_?)del	PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3244879	NC_000010.10:g.(?_89692750)_(89712036_?)del	PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3244878	NC_000010.10:g.(?_89653772)_(89693018_?)del	PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3244877	NC_000010.10:g.(?_89692750)_(89693028_?)del	PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3244876	NC_000010.10:g.(?_89624218)_(89624340_?)del	PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3240233	NM_000314.8(PTEN):c.1056G>T (p.Glu352Asp)	PTEN (E155D +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2	GUncertain significance
Select item 3240232	NM_000314.8(PTEN):c.192T>G (p.His64Gln)	PTEN (H237Q +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2	GUncertain significance
Select item 3240231	NM_000314.8(PTEN):c.874A>G (p.Asn292Asp)	PTEN (N292D +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2	GUncertain significance
Select item 3240230	NM_000314.8(PTEN):c.467G>T (p.Gly156Val)	PTEN (G156V +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +1 more	GUncertain significance OLikely oncogenic
Select item 3240229	NM_000314.8(PTEN):c.48_50del (p.Tyr16_Gln17delinsTer)	PTEN	Deletion (nonsense +1 more)	Glioma susceptibility 2	GLikely pathogenic
Select item 3237442	NM_000314.8(PTEN):c.144_146del (p.Asn49del)	PTEN (N222del +1 more)	Deletion (inframe_deletion +1 more)	Cowden syndrome 1	GUncertain significance
Select item 3236456	NM_000314.8(PTEN):c.29G>C (p.Ser10Thr)	PTEN (S10T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 3233916	NC_000010.10:g.(89712017_89717609)_(89731688_?)del	PTEN	Deletion	Cowden syndrome	GPathogenic
Select item 3231175	NM_000314.8(PTEN):c.991del (p.Asp331fs)	PTEN (D134fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3231173	NM_000314.8(PTEN):c.935A>C (p.Asp312Ala)	PTEN (D115A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231172	NM_000314.8(PTEN):c.881_885del (p.Ser294fs)	PTEN (S294fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231171	NM_000314.8(PTEN):c.829del (p.Thr277fs)	PTEN (T277fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231170	NM_000314.8(PTEN):c.80-12_88dup	PTEN	Duplication (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3231169	NM_000314.8(PTEN):c.727_730dup (p.Pro244fs)	PTEN (P244fs +2 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231168	NM_000314.8(PTEN):c.6A>T (p.Thr2=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231167	NM_000314.8(PTEN):c.662del (p.Lys221fs)	PTEN (K221fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231166	NM_000314.8(PTEN):c.65A>T (p.Asp22Val)	PTEN (D195V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231165	NM_000314.8(PTEN):c.634+2dup	PTEN	Duplication (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231164	NM_000314.8(PTEN):c.591G>A (p.Lys197=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231163	NM_000314.8(PTEN):c.590_591delinsTA (p.Lys197Ile)	PTEN (K197I +1 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231162	NM_000314.8(PTEN):c.569dup (p.Val191fs)	PTEN (V191fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231161	NM_000314.8(PTEN):c.558G>A (p.Leu186=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231160	NM_000314.8(PTEN):c.497_501dup (p.Ile168Ter)	PTEN (I168* +1 more)	Duplication (nonsense +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic

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