PTEN[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 3087

<< First< Prev

Page of 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1760594	NM_000314.8(PTEN):c.-778G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1760546	NM_000314.8(PTEN):c.-777G>T	PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1760543	NM_000314.8(PTEN):c.-777G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 421430	NM_000314.8(PTEN):c.-777G>C	PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 928673	NM_000314.8(PTEN):c.-773C>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 141620	NM_000314.8(PTEN):c.-772A>C	PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185862	NM_000314.8(PTEN):c.-771G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 488864	NM_000314.8(PTEN):c.-770G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 127673	NM_000314.8(PTEN):c.-768G>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 142602	NM_000314.8(PTEN):c.-766G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder +1 more	GUncertain significance
Select item 7844	NM_000314.8(PTEN):c.-765G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 234866	NM_000314.8(PTEN):c.-764G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1692372	NM_000314.8(PTEN):c.-752GGC[4]	PTEN	Microsatellite (5 prime UTR variant)	Familial meningioma +5 more	GUncertain significance
Select item 488782	NM_000314.8(PTEN):c.-754A>G	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488851	NM_000314.8(PTEN):c.-753C>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 827097	NM_000314.8(PTEN):c.-752G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	Macrocephaly-autism syndrome +6 more	GUncertain significance
Select item 2506180	NM_000314.8(PTEN):c.-751G>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 488891	NM_000314.8(PTEN):c.-749G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 488902	NM_000314.8(PTEN):c.-744C>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234405	NM_000314.8(PTEN):c.-742G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 488723	NM_000314.8(PTEN):c.-741C>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 488724	NM_000314.8(PTEN):c.-740G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 301405	NM_000314.8(PTEN):c.-737C>G	PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 189439	NM_000314.8(PTEN):c.-734dup	PTEN	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 419498	NM_000314.8(PTEN):c.-735G>C	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 127672	NM_000314.8(PTEN):c.-735G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 189524	NM_000314.8(PTEN):c.-734G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 488742	NM_000314.8(PTEN):c.-732G>C	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 265306	NM_000314.8(PTEN):c.-731C>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 189416	NM_000314.8(PTEN):c.-730C>G	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 439292	NM_000314.8(PTEN):c.-729C>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 189417	NM_000314.8(PTEN):c.-728C>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 488932	NM_000314.8(PTEN):c.-721C>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488855	NM_000314.8(PTEN):c.-720G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 127671	NM_000314.8(PTEN):c.-714G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 488924	NM_000314.8(PTEN):c.-704G>C	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 488756	NM_000314.8(PTEN):c.-696C>G	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 189527	NM_000314.8(PTEN):c.-692C>T	PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2628536	NM_000314.8(PTEN):c.-540_-477del	PTEN (E2fs)	Deletion (5 prime UTR variant +2 more)	PTEN-related disorder	GUncertain significance
Select item 492718	NM_000314.8(PTEN):c.-546GGC[6]	PTEN	Microsatellite (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 3042441	NM_000314.8(PTEN):c.-546GGC[2]	PTEN	Microsatellite (5 prime UTR variant)	PTEN-related disorder	GLikely benign
Select item 1679433	NM_000314.8(PTEN):c.-531_-486del	PTEN (L1fs)	Deletion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 492719	NM_000314.8(PTEN):c.-534_-533delinsTT	PTEN	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 301407	NM_000314.8(PTEN):c.-534G>T	PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2640661	NM_000314.8(PTEN):c.-525C>G	PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3026891	NM_000314.8(PTEN):c.-514C>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3051450	NM_000314.8(PTEN):c.-513G>T	PTEN (R3L)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 1701142	NM_000314.8(PTEN):c.-513G>C	PTEN (R3P)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder +2 more	GBenign/Likely benign
Select item 301408	NM_000314.8(PTEN):c.-507del	PTEN (G5fs)	Deletion (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3052131	NM_000314.8(PTEN):c.-512G>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 3025853	NM_000314.8(PTEN):c.-512G>C	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 301409	NM_000314.8(PTEN):c.-512G>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign
Select item 810888	NM_000314.8(PTEN):c.-511G>A	PTEN (G4R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 548871	NM_000314.8(PTEN):c.-500GGC[6]	PTEN	Microsatellite (5 prime UTR variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 492721	NM_000314.8(PTEN):c.-500GGC[7]	PTEN	Microsatellite (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 3049161	NM_000314.8(PTEN):c.-500GGC[3]	PTEN	Microsatellite (5 prime UTR variant)	PTEN-related disorder	GLikely benign
Select item 492722	NM_000314.8(PTEN):c.-500GGC[4]	PTEN (A17del)	Microsatellite (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 2640662	NM_000314.8(PTEN):c.-501C>G	PTEN (A7G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 830308	NM_000314.8(PTEN):c.-475G>T	PTEN (A16S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 830307	NM_000314.8(PTEN):c.-475G>A	PTEN (A16T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2640663	NM_000314.8(PTEN):c.-471C>T	PTEN (A17V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3051078	NM_000314.8(PTEN):c.-466G>A	PTEN (G19R)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder +1 more	GLikely benign
Select item 301410	NM_000314.8(PTEN):c.-462G>A	PTEN (R20K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1284449	NM_000314.8(PTEN):c.-461G>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3045216	NM_000314.8(PTEN):c.-460G>C	PTEN (G21R)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 301411	NM_000314.8(PTEN):c.-459G>T	PTEN (G21V)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 1693024	NM_000314.8(PTEN):c.-448C>T	PTEN (P25S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 301412	NM_000314.8(PTEN):c.-426G>T	PTEN (G32V)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 1879136	NM_000314.8(PTEN):c.-383A>C	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2682054	NM_000314.8(PTEN):c.-369_-368dup	PTEN (R52fs)	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2570771	NM_000314.8(PTEN):c.-367_-366insGG	PTEN	Insertion (5 prime UTR variant)	not provided	GLikely benign
Select item 492723	NM_000314.8(PTEN):c.-367del	PTEN (R52fs)	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 440216	NC_000010.11:g.87864104del	PTEN	Deletion	not provided +1 more	GBenign
Select item 301413	NM_000314.8(PTEN):c.-355G>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 1330055	NM_000314.8(PTEN):c.-354G>A	PTEN (G56R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3029786	NM_000314.8(PTEN):c.-349C>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 3026903	NM_000314.8(PTEN):c.-343G>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3067415	NM_000314.8(PTEN):c.-334C>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3051701	NM_000314.8(PTEN):c.-329C>T	PTEN (P64L)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 1705890	NM_000314.8(PTEN):c.-326=	PTEN (S65C)	Variation (no sequence alteration +2 more)	Myeloproliferative neoplasm, unclassifiable	GPathogenic
Select item 440217	NM_000314.8(PTEN):c.-326G>C	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 3024685	NM_000314.8(PTEN):c.-322C>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2630297	NM_000314.8(PTEN):c.-319C>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GUncertain significance
Select item 1699095	NM_000314.8(PTEN):c.-318G>T	PTEN (A68S)	Single nucleotide variant (5 prime UTR variant +1 more)	Cowden syndrome 1	GUncertain significance
Select item 3048505	NM_000314.8(PTEN):c.-313A>G	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 2852925	NM_000314.8(PTEN):c.-312_18del (p.Met1_Lys6del)	PTEN	Deletion (inframe_deletion +2 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 1697360	NM_000314.8(PTEN):c.-313A>C	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1330509	NM_000314.8(PTEN):c.-313A>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2640664	NM_000314.8(PTEN):c.-312C>T	PTEN (P70S)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1699305	NM_000314.8(PTEN):c.-307del	PTEN (V72fs)	Deletion (5 prime UTR variant +1 more)	Macrocephaly-autism syndrome	GUncertain significance
Select item 3045045	NM_000314.8(PTEN):c.-307C>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related disorder	GLikely benign
Select item 1692369	NM_000314.8(PTEN):c.-301C>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 301414	NM_000314.8(PTEN):c.-295T>C	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 492724	NM_000314.8(PTEN):c.-290A>T	PTEN (E77V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1692368	NM_000314.8(PTEN):c.-289G>C	PTEN (E77D)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1298492	NM_000314.8(PTEN):c.-289G>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 878725	NM_000314.8(PTEN):c.-286C>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 301415	NM_000314.8(PTEN):c.-284C>T	PTEN (A79V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign

<< First< Prev

Page of 31