ClinVar for MedGen (Select 368366) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377177	NM_000314.8(PTEN):c.325_328delinsTT (p.Asp109fs)	PTEN (D109fs +1 more)	Indel (frameshift variant +1 more)	PTEN hamartoma tumor 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 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 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 +1 more	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 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 (synonymous 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)	Hereditary cancer-predisposing syndrome +1 more	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 +1 more	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
Select item 2827098	NM_000314.8(PTEN):c.68T>C (p.Leu23Ser)	PTEN (L196S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2826609	NM_000314.8(PTEN):c.209+12T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2826032	NM_000314.8(PTEN):c.157del (p.Asp52_Val53insTer)	PTEN	Deletion (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2824871	NM_000314.8(PTEN):c.280A>T (p.Asn94Tyr)	PTEN (N94Y +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2823685	NM_000314.8(PTEN):c.743C>T (p.Pro248Leu)	PTEN (P51L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2819431	NM_000314.8(PTEN):c.111del (p.Pro38fs)	PTEN (P211fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2819090	NM_000314.8(PTEN):c.40A>T (p.Arg14Trp)	PTEN (R14W +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2818811	NM_000314.8(PTEN):c.620G>T (p.Ser207Ile)	PTEN (S380I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2817616	NM_000314.8(PTEN):c.15C>T (p.Ile5=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2815563	NM_000314.8(PTEN):c.167T>A (p.Phe56Tyr)	PTEN (F229Y +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2814792	NM_000314.8(PTEN):c.597G>C (p.Met199Ile)	PTEN (M2I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2814779	NM_000314.8(PTEN):c.857C>A (p.Thr286Asn)	PTEN (T459N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2814012	NM_000314.8(PTEN):c.634+11G>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2813304	NM_000314.8(PTEN):c.301A>C (p.Ile101Leu)	PTEN (I101L +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2812725	NM_000314.8(PTEN):c.30C>T (p.Ser10=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 2811915	NM_000314.8(PTEN):c.47A>C (p.Tyr16Ser)	PTEN (Y189S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2805466	NM_000314.8(PTEN):c.707A>C (p.Asp236Ala)	PTEN (D236A +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance

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