ClinVar for MedGen (Select 381416) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 104

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220859	NM_000314.8(PTEN):c.520T>C (p.Tyr174His)	PTEN (Y174H +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 2674416	NM_000314.8(PTEN):c.731del (p.Pro244fs)	PTEN (P244fs +2 more)	Deletion (frameshift variant)	Cowden syndrome 1 +1 more	GPathogenic
Select item 2664745	NM_000314.8(PTEN):c.178A>C (p.Lys60Gln)	PTEN (K233Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +1 more	GUncertain significance
Select item 2628372	NM_000314.8(PTEN):c.313T>C (p.Cys105Arg)	PTEN (C105R +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 2578336	NM_000314.8(PTEN):c.634+3_634+7delinsTCTCATCCTTGAATTT	PTEN	Indel (intron variant)	Macrocephaly-autism syndrome +4 more	Gnot provided
Select item 2502345	NM_000314.8(PTEN):c.827A>G (p.Asn276Ser)	PTEN (N276S +2 more)	Single nucleotide variant (missense variant)	Macrocephaly-autism syndrome	GPathogenic
Select item 2443991	NM_000314.8(PTEN):c.392C>A (p.Thr131Asn)	PTEN (T131N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2443989	NM_000314.8(PTEN):c.188dup (p.Asn63fs)	PTEN (N236fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2442249	NM_000314.8(PTEN):c.436_437insG (p.Leu146fs)	PTEN (L146fs +1 more)	Insertion (frameshift variant +1 more)	Macrocephaly-autism syndrome	GPathogenic
Select item 1810292	NM_000314.8(PTEN):c.-687G>A	LOC130004274, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome +3 more	Gnot provided
Select item 1805089	NM_000314.8(PTEN):c.867del (p.Lys289_Val290insTer)	PTEN	Deletion (frameshift variant)	Cowden syndrome 1 +1 more	GPathogenic
Select item 1803052	NM_000314.8(PTEN):c.374A>G (p.Lys125Arg)	PTEN (K125R +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 1802604	NM_000314.8(PTEN):c.243T>G (p.Phe81Leu)	PTEN (F254L +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome	GPathogenic
Select item 1708039	NM_000314.8(PTEN):c.422A>T (p.His141Leu)	PTEN (H141L +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +2 more	GLikely pathogenic
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 1699095	NM_000314.8(PTEN):c.-318G>T	PTEN (A68S)	Single nucleotide variant (5 prime UTR variant +1 more)	Macrocephaly-autism syndrome	GUncertain significance
Select item 1692372	NM_000314.8(PTEN):c.-752GGC[4]	PTEN	Microsatellite (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 1481095	NM_000314.8(PTEN):c.593T>C (p.Met198Thr)	PTEN (M198T +2 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +5 more	GUncertain significance
Select item 1458931	NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter)	PTEN (Y509* +2 more)	Duplication (nonsense)	Cowden syndrome +3 more	GPathogenic
Select item 1341516	NM_000314.8(PTEN):c.494G>T (p.Gly165Val)	PTEN (G165V +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome +1 more	GPathogenic
Select item 1334551	NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)	PTEN (G209R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 1333638	NM_000314.8(PTEN):c.493-1G>T	PTEN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1333229	NM_000314.8(PTEN):c.66C>G (p.Asp22Glu)	PTEN (D195E +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +2 more	GUncertain significance
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 1320095	NM_000314.8(PTEN):c.784_785del (p.Asn262fs)	PTEN (N262fs +2 more)	Deletion (frameshift variant)	Macrocephaly-autism syndrome	GPathogenic
Select item 1009027	NM_000314.8(PTEN):c.493-6C>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 983470	NM_000314.8(PTEN):c.209+1_209+2dup	PTEN	Duplication (splice donor variant +1 more)	Macrocephaly-autism syndrome	GUncertain significance
Select item 974864	NM_000314.8(PTEN):c.529T>C (p.Tyr177His)	PTEN (Y177H +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 856796	NM_000314.8(PTEN):c.394G>A (p.Gly132Ser)	PTEN (G132S +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 827097	NM_000314.8(PTEN):c.-752G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	Malignant tumor of prostate +6 more	GUncertain significance
Select item 825730	NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)	PTEN (L181P +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 822660	NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)	PTEN (I101T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 818542	NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)	PTEN (H397Y +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
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 689447	NM_000314.8(PTEN):c.802-1G>A	PTEN	Single nucleotide variant (splice acceptor variant)	Cowden syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 560715	NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs)	PTEN (V463fs +2 more)	Insertion (frameshift variant)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 488964	NM_001126049.2(KLLN):c.-736G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1 +7 more	GUncertain significance
Select item 488769	NM_000314.6(PTEN):c.-859A>G	KLLN, LOC130004273 +1 more	Single nucleotide variant	Cowden syndrome 1 +7 more	GUncertain significance
Select item 488715	NM_001126049.2(KLLN):c.-777C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GUncertain significance
Select item 484603	NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)	PTEN (E288K +2 more)	Single nucleotide variant (missense variant)	Familial meningioma +7 more	GUncertain significance
Select item 480386	NM_000314.8(PTEN):c.49C>G (p.Gln17Glu)	KLLN, PTEN (Q17E +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 468687	NM_000314.8(PTEN):c.449A>G (p.Glu150Gly)	PTEN (E150G +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 468682	NM_000314.8(PTEN):c.37A>T (p.Lys13Ter)	PTEN (K13* +1 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly-autism syndrome +1 more	GPathogenic
Select item 468676	NM_000314.8(PTEN):c.253+2T>A	PTEN	Single nucleotide variant (splice donor variant)	PTEN hamartoma tumor syndrome +6 more	GPathogenic
Select item 428253	NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)	PTEN (L320* +2 more)	Single nucleotide variant (nonsense)	PTEN hamartoma tumor syndrome +3 more	GPathogenic
Select item 428237	NM_000314.8(PTEN):c.463T>C (p.Tyr155His)	PTEN (Y155H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 428235	NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)	PTEN (I135K +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +5 more	GPathogenic/Likely pathogenic
Select item 428212	NM_000314.8(PTEN):c.261del (p.Gln87fs)	PTEN (Q87fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 427593	NM_000314.8(PTEN):c.470A>G (p.Glu157Gly)	PTEN (E157G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 427580	NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln)	PTEN (R335Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 420367	NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)	PTEN (R308C +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +8 more	GUncertain significance
Select item 418653	NM_000314.8(PTEN):c.947T>C (p.Leu316Pro)	PTEN (L316P +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 418434	NM_000314.8(PTEN):c.209+1G>A	PTEN	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 404168	NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	PTEN (Y155C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 393298	NM_000314.8(PTEN):c.44_45dup (p.Tyr16fs)	PTEN (Y16fs +1 more)	Microsatellite (frameshift variant +1 more)	Cowden syndrome 1	GPathogenic
Select item 372481	NM_000314.8(PTEN):c.320A>T (p.Asp107Val)	PTEN (D107V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 301420	NM_000314.8(PTEN):c.-121A>G	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	Malignant tumor of prostate +5 more	GUncertain significance
Select item 280031	NM_000314.8(PTEN):c.634+5G>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 234510	NM_000314.8(PTEN):c.-822G>T	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +7 more	GUncertain significance
Select item 232932	NM_000314.8(PTEN):c.253+1dup	PTEN	Duplication (splice donor variant)	PTEN hamartoma tumor syndrome +2 more	GPathogenic/Likely pathogenic
Select item 223142	NM_000314.8(PTEN):c.740T>C (p.Leu247Ser)	PTEN (L247S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 216987	NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)	PTEN (S287* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic/Likely pathogenic
Select item 211972	NM_000314.8(PTEN):c.900del (p.Ile300fs)	PTEN (I300fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 209187	NM_000314.8(PTEN):c.1048dup (p.Thr350fs)	PTEN (T350fs +2 more)	Duplication (frameshift variant)	Macrocephaly-autism syndrome	GPathogenic
Select item 189528	NM_000314.8(PTEN):c.-666G>A	LOC130004274, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 189500	NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	PTEN (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 189475	NM_000314.8(PTEN):c.253+1G>T	PTEN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 189474	NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	PTEN (Y68H +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 189412	NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)	PTEN (Q171R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +6 more	GConflicting classifications of pathogenicity
Select item 187827	NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)	PTEN (L182S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 187362	NM_001126049.2(KLLN):c.-828C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +8 more	GUncertain significance
Select item 186180	NM_000314.8(PTEN):c.488A>G (p.Lys163Arg)	PTEN (K163R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 184277	NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)	PTEN (T277I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 143020	NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)	PTEN (P354Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 142844	NM_001126049.2(KLLN):c.-806A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 142259	NM_000314.8(PTEN):c.741dup (p.Pro248fs)	PTEN (P51fs +2 more)	Duplication (frameshift variant)	not provided +7 more	GPathogenic
Select item 141949	NM_000314.6(PTEN):c.-868G>C	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome +9 more	GConflicting classifications of pathogenicity
Select item 141864	NM_001126049.2(KLLN):c.-845C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 127696	NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)	PTEN (S305N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 127695	NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	PTEN (Q298E +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
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 127682	NM_001126049.2(KLLN):c.-1039G>A	LOC130004273, PTEN +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 127681	NM_000314.6(PTEN):c.-909T>C	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 127676	NM_000314.8(PTEN):c.-835C>T	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 127663	NM_001126049.2(KLLN):c.-792C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
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 92832	NM_000314.8(PTEN):c.802-4_802-3dup	PTEN	Duplication (intron variant)	not specified +7 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 92810	NM_000314.8(PTEN):c.1026+32T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 71118	NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)	PTEN	Microsatellite (nonsense)	not provided +5 more	GPathogenic
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 39670	NM_000314.8(PTEN):c.405dup (p.Cys136fs)	PTEN (C136fs +1 more)	Duplication (frameshift variant +1 more)	Cowden syndrome 1 +2 more	GPathogenic
Select item 39669	NM_000314.8(PTEN):c.392C>T (p.Thr131Ile)	PTEN (T131I +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 39668	NM_000314.8(PTEN):c.500C>A (p.Thr167Asn)	PTEN (T167N +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 7851	PTEN, 1-BP INS, 519T	PTEN	Insertion	Macrocephaly-autism syndrome	GPathogenic
Select item 7850	NM_000314.8(PTEN):c.722T>C (p.Phe241Ser)	PTEN (F241S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 7849	NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)	PTEN (D252G +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 7848	NM_000314.8(PTEN):c.278A>G (p.His93Arg)	PTEN (H93R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
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 7833	NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	PTEN (R335* +2 more)	Single nucleotide variant (nonsense)	PTEN-related disorder +11 more	GPathogenic

<< First< Prev

Page of 2