"Mendelics"[submitter] AND "PTEN"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189522	NM_000314.4(PTEN):c.-1242G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 127660	NM_001126049.2(KLLN):c.-898G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 138836	NM_001126049.2(KLLN):c.-956G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 189492	NM_000314.6(PTEN):c.-920G>A	LOC130004273, PTEN	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 141949	NM_000314.6(PTEN):c.-868G>C	LOC130004273, PTEN	Single nucleotide variant	not specified +9 more	GConflicting classifications of pathogenicity
Select item 189408	NM_000314.6(PTEN):c.-845A>C	LOC130004273, PTEN	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 234695	NM_000314.8(PTEN):c.-802G>A	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 127674	NM_000314.8(PTEN):c.-799G>C	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 189525	NM_000314.8(PTEN):c.-701G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1701142	NM_000314.8(PTEN):c.-513G>C	PTEN (R3P)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition +2 more	GBenign/Likely benign
Select item 584750	NM_000314.8(PTEN):c.-482_-474del	PTEN	Deletion (5 prime UTR variant +1 more)	Glioma susceptibility 2 +1 more	GUncertain significance
Select item 802602	NM_000314.8(PTEN):c.-280C>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 1686106	NM_000314.8(PTEN):c.2T>C (p.Met1Thr)	PTEN (M174T +1 more)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 1	GPathogenic
Select item 1320976	NM_000314.8(PTEN):c.35A>G (p.Asn12Ser)	PTEN (N12S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 208723	NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)	PTEN (D24G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +3 more	GPathogenic/Likely pathogenic
Select item 184104	NM_000314.8(PTEN):c.78C>T (p.Thr26=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 496970	NM_000314.8(PTEN):c.80-1_80del	PTEN	Deletion (splice acceptor variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 449088	NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)	PTEN (I33del +1 more)	Microsatellite (inframe_deletion +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 536558	NM_000314.8(PTEN):c.105G>A (p.Met35Ile)	PTEN (M35I +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 584751	NM_000314.8(PTEN):c.209+2T>C	PTEN	Single nucleotide variant (splice donor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 802603	NM_000314.8(PTEN):c.209+84G>A	PTEN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 142397	NM_000314.8(PTEN):c.210-7_210-3del	PTEN	Microsatellite (intron variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 41682	NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)	PTEN (A79T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 802604	NM_000314.8(PTEN):c.254-34T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 802605	NM_000314.8(PTEN):c.254-29C>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GBenign
Select item 802606	NM_000314.8(PTEN):c.254-26A>T	PTEN	Single nucleotide variant (intron variant)	Macrocephaly-autism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 802607	NM_000314.8(PTEN):c.254-23C>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GBenign
Select item 584752	NM_000314.8(PTEN):c.256G>A (p.Ala86Thr)	PTEN (A86T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 224542	NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)	PTEN (D115G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 189484	NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)	PTEN (G129R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 584548	NM_000314.8(PTEN):c.492+3A>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome +2 more	GUncertain significance
Select item 802608	NM_000314.8(PTEN):c.492+31T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 802609	NM_000314.8(PTEN):c.493-27G>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 1686107	NM_000314.8(PTEN):c.499A>G (p.Thr167Ala)	PTEN (T167A +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1	GPathogenic
Select item 481156	NM_000314.8(PTEN):c.577C>T (p.Leu193=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 418437	NM_000314.8(PTEN):c.592ATG[1] (p.Met199del)	PTEN (M199del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 189414	NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)	PTEN (F200S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 404146	NM_000314.8(PTEN):c.613A>G (p.Met205Val)	PTEN (M205V +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 7836	NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)	PTEN (C211* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 1686108	NM_000314.8(PTEN):c.739_740insAGT (p.Leu247Ter)	PTEN (L247* +2 more)	Insertion (nonsense)	Cowden syndrome 1	GPathogenic
Select item 802610	NM_000314.8(PTEN):c.802-34C>A	PTEN	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 802611	NM_000314.8(PTEN):c.802-5_802-3dup	PTEN	Duplication (intron variant)	PTEN hamartoma tumor syndrome +4 more	GBenign/Likely benign
Select item 92831	NM_000314.8(PTEN):c.802-3dup	PTEN	Duplication (intron variant)	Malignant tumor of prostate +8 more	GBenign
Select item 229656	NM_000314.8(PTEN):c.802-5_802-3del	PTEN	Deletion (intron variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 584754	NM_000314.8(PTEN):c.810G>T (p.Met270Ile)	PTEN (M270I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 127693	NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)	PTEN (S294R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 233963	NM_000314.8(PTEN):c.901G>A (p.Asp301Asn)	PTEN (D301N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 802612	NM_000314.8(PTEN):c.955_956insTCTGACAAGGAATATCTAGTACTTA (p.Thr319delinsIleTer)	PTEN	Insertion (nonsense)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 584755	NM_000314.8(PTEN):c.1016C>A (p.Pro339Gln)	PTEN (P339Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 1685418	NC_000010.11:g.87965287del	PTEN	Deletion	Cowden syndrome 1	GLikely pathogenic
Select item 802613	NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)	PTEN (L148R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GConflicting classifications of pathogenicity
Select item 1685048	NM_000314.8(PTEN):c.1064C>T (p.Ser355Leu)	PTEN (S158L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 140777	NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)	PTEN (S360G +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 802615	NM_000314.8(PTEN):c.3448_3463dup	PTEN	Duplication (3 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 802614	NM_000314.8(PTEN):c.3449_3463dup	PTEN	Duplication (3 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55