ClinVar for Gene (Select 5728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076186	NM_000314.8(PTEN):c.164+16_164+17insAAATATCTGAGTACTTTAG	PTEN	Insertion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076185	NM_000314.8(PTEN):c.164+16_164+17insAAATATCTGAGTAC	PTEN	Insertion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076184	NM_000314.8(PTEN):c.164+14dup	PTEN	Duplication (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3075885	NM_000314.8(PTEN):c.802-6_802-3dup	PTEN	Duplication (intron variant)	not specified	GBenign
Select item 3075549	NM_000314.8(PTEN):c.953T>G (p.Leu318Arg)	PTEN (L121R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3075548	NM_000314.8(PTEN):c.701G>T (p.Arg234Leu)	PTEN (R234L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3075547	NM_000314.8(PTEN):c.230A>G (p.Asp77Gly)	PTEN (D250G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3074642	NM_000314.8(PTEN):c.575C>G (p.Ala192Gly)	PTEN (A192G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3074232	NM_000314.8(PTEN):c.687_688insACGAAT (p.Ser229_Gly230insThrAsn)	PTEN	Insertion (inframe_insertion)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3073991	NM_000314.8(PTEN):c.1015C>G (p.Pro339Ala)	PTEN (P142A +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3072500	NM_000314.8(PTEN):c.1_2del	PTEN	Deletion (3 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3072499	NM_000314.8(PTEN):c.*3T>C	PTEN	Single nucleotide variant (3 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3072451	NM_000314.8(PTEN):c.254-13C>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3072410	NM_000314.8(PTEN):c.649G>C (p.Val217Leu)	PTEN (V20L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3071692	NM_000314.8(PTEN):c.96T>G (p.Ile32Met)	PTEN (I205M +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3071050	NM_000314.8(PTEN):c.491A>T (p.Lys164Met)	PTEN (K164M +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3070715	NM_000314.8(PTEN):c.713T>C (p.Phe238Ser)	PTEN (F238S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3070345	NM_000314.8(PTEN):c.672A>T (p.Ile224=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3070126	NM_000314.8(PTEN):c.731C>T (p.Pro244Leu)	PTEN (P244L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3069948	NM_000314.8(PTEN):c.196A>C (p.Lys66Gln)	PTEN (K239Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3068678	NM_000314.8(PTEN):c.216_219dup (p.Arg74Ter)	PTEN (R247* +1 more)	Duplication (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
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 3066148	NM_000314.8(PTEN):c.739_740insAAT (p.Leu247Ter)	PTEN (L247* +2 more)	Insertion (nonsense)	Cowden syndrome 1	GLikely pathogenic
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3061347	NM_000314.6(PTEN):c.-931_-914dup	LOC130004273, PTEN	Duplication	PTEN-related condition	GLikely benign
Select item 3052131	NM_000314.8(PTEN):c.-512G>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition	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 condition	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 condition	GLikely benign
Select item 3051078	NM_000314.8(PTEN):c.-466G>A	PTEN (G19R)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition	GLikely benign
Select item 3049161	NM_000314.8(PTEN):c.-500GGC[3]	PTEN	Microsatellite (5 prime UTR variant +1 more)	PTEN-related condition	GLikely benign
Select item 3048505	NM_000314.8(PTEN):c.-313A>G	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition	GLikely benign
Select item 3046566	NM_001126049.2(KLLN):c.-814C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN-related condition	GLikely benign
Select item 3045216	NM_000314.8(PTEN):c.-460G>C	PTEN (G21R)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition	GLikely benign
Select item 3045045	NM_000314.8(PTEN):c.-307C>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition	GLikely benign
Select item 3042441	NM_000314.8(PTEN):c.-546GGC[2]	PTEN	Microsatellite (5 prime UTR variant)	PTEN-related condition	GLikely benign
Select item 3040527	NM_000314.8(PTEN):c.209+9G>C	PTEN	Single nucleotide variant (intron variant)	PTEN-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3039090	NM_000314.8(PTEN):c.-66A>C	PTEN (K152Q)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition	GLikely benign
Select item 3030802	NM_000314.8(PTEN):c.-175C>G	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition	GLikely benign
Select item 3029786	NM_000314.8(PTEN):c.-349C>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition	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 3026891	NM_000314.8(PTEN):c.-514C>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3026758	NM_000314.8(PTEN):c.-223C>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3026438	NM_000314.8(PTEN):c.-265G>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3026433	NM_000314.8(PTEN):c.661A>G (p.Lys221Glu)	PTEN (K221E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 3025766	NM_000314.8(PTEN):c.-646C>T	LOC130004274, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 3022663	NM_000314.8(PTEN):c.80-3C>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3013989	NM_000314.8(PTEN):c.79+15G>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2992931	NM_000314.8(PTEN):c.493-12del	PTEN	Deletion (intron variant)	PTEN hamartoma tumor syndrome	GBenign
Select item 2975037	NM_000314.8(PTEN):c.237C>G (p.Ala79=)	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2967687	NM_000314.8(PTEN):c.253+20_253+24dup	PTEN	Duplication (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2958918	NM_000314.8(PTEN):c.80-14A>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2912092	NM_000314.8(PTEN):c.918A>G (p.Ile306Met)	PTEN (I306M +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2909973	NM_000314.8(PTEN):c.493-18T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2900423	NM_000314.8(PTEN):c.253+11A>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2896983	NM_000314.8(PTEN):c.72C>A (p.Asp24Glu)	PTEN (D197E +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2896208	NM_000314.8(PTEN):c.932A>T (p.Asn311Ile)	PTEN (N114I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2891032	NM_000314.8(PTEN):c.199A>T (p.Ile67Leu)	PTEN (I240L +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2884029	NM_000314.8(PTEN):c.581T>A (p.Leu194Ter)	PTEN (L194* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2884028	NM_000314.8(PTEN):c.210-8dup	PTEN	Duplication (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2880317	NM_000314.8(PTEN):c.153T>C (p.Asp51=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2877017	NM_000314.8(PTEN):c.875A>T (p.Asn292Ile)	PTEN (N465I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2875887	NM_000314.8(PTEN):c.209+15T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2875398	NM_000314.8(PTEN):c.209+9G>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2873711	NM_000314.8(PTEN):c.254-18G>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2868427	NM_000314.8(PTEN):c.210-14A>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2866544	NM_000314.8(PTEN):c.652T>C (p.Cys218Arg)	PTEN (C218R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2865110	NM_000314.8(PTEN):c.466_467delinsAA (p.Gly156Lys)	PTEN (G329K +1 more)	Indel (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2864738	NM_000314.8(PTEN):c.702_706del (p.Glu235fs)	PTEN (E38fs +2 more)	Deletion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2863055	NM_000314.8(PTEN):c.199A>G (p.Ile67Val)	PTEN (I240V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2862986	NM_000314.8(PTEN):c.79+18T>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2861996	NM_000314.8(PTEN):c.452C>T (p.Ala151Val)	PTEN (A151V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2861979	NM_000314.8(PTEN):c.493-15T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2861973	NM_000314.8(PTEN):c.801+20T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2860672	NM_000314.8(PTEN):c.1042A>C (p.Thr348Pro)	PTEN (T151P +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2858163	NM_000314.8(PTEN):c.210-2A>T	PTEN	Single nucleotide variant (splice acceptor variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2858087	NM_000314.8(PTEN):c.493-10T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2857716	NM_000314.8(PTEN):c.808_809insACAA (p.Met270fs)	PTEN (M73fs +2 more)	Insertion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2855793	NM_000314.8(PTEN):c.128A>C (p.Glu43Ala)	PTEN (E216A +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2855237	NM_000314.8(PTEN):c.197_199dup (p.Lys66_Ile67insLys)	PTEN	Duplication (inframe_insertion +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
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 2851339	NM_000314.8(PTEN):c.635-5T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2850582	NM_000314.8(PTEN):c.165-17G>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2849895	NM_000314.8(PTEN):c.210-7C>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2849639	NM_000314.8(PTEN):c.237C>T (p.Ala79=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2848369	NM_000314.8(PTEN):c.645T>G (p.Phe215Leu)	PTEN (F18L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2848209	NM_000314.8(PTEN):c.254-14T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2843189	NM_000314.8(PTEN):c.79+18T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2842757	NM_000314.8(PTEN):c.717_721del (p.Met239fs)	PTEN (M239fs +2 more)	Deletion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2837724	NM_000314.8(PTEN):c.493-7C>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2836880	NM_000314.8(PTEN):c.272A>G (p.Glu91Gly)	PTEN (E264G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2835309	NM_000314.8(PTEN):c.499dup (p.Thr167fs)	PTEN (T167fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2834356	NM_000314.8(PTEN):c.1013C>A (p.Ser338Tyr)	PTEN (S141Y +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2833276	NM_000314.8(PTEN):c.574G>T (p.Ala192Ser)	PTEN (A365S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2832413	NM_000314.8(PTEN):c.683A>C (p.Asn228Thr)	PTEN (N228T +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2832004	NM_000314.8(PTEN):c.816C>G (p.His272Gln)	PTEN (H445Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2830390	NM_000314.8(PTEN):c.80-14_92dup	PTEN	Duplication (splice acceptor variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2828231	NM_000314.8(PTEN):c.695C>A (p.Thr232Lys)	PTEN (T232K +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2827381	NM_000314.8(PTEN):c.6A>G (p.Thr2=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign

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