ClinVar for MedGen (Select 368366) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3780931	NM_000314.8(PTEN):c.-921G>T	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3780930	NM_000314.8(PTEN):c.-896T>C	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3780929	NM_000314.8(PTEN):c.-854C>G	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3780928	NM_000314.8(PTEN):c.-1239A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3780927	NM_000314.8(PTEN):c.-1178C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3780926	NM_000314.8(PTEN):c.-1111A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3780925	NM_000314.8(PTEN):c.-1001T>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3780924	NM_000314.8(PTEN):c.75_91delinsCTATGGCAATAGGACA	PTEN	Indel (3 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3780923	NM_000314.8(PTEN):c.*65T>A	PTEN	Single nucleotide variant (3 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3729632	NM_000314.8(PTEN):c.1038C>G (p.Tyr346Ter)	PTEN (Y149* +2 more)	Single nucleotide variant (nonsense)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3729213	NM_000314.8(PTEN):c.79+2_79+4delinsACA	PTEN	Indel (splice donor variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3728776	NM_000314.8(PTEN):c.60A>C (p.Gly20=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GBenign/Likely benign
Select item 3727415	NM_000314.8(PTEN):c.1172dup (p.Phe392_Asp393insTer)	PTEN	Duplication (frameshift variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3727242	NM_000314.8(PTEN):c.1185T>C (p.Asp395=)	PTEN	Single nucleotide variant (synonymous variant)	Cowden syndrome 1 +1 more	GBenign/Likely benign
Select item 3727152	NM_000314.8(PTEN):c.354del (p.His118fs)	PTEN (H118fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3726613	NM_000314.8(PTEN):c.35del (p.Asn12fs)	PTEN (N185fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3726594	NM_000314.8(PTEN):c.784A>G (p.Asn262Asp)	PTEN (N262D +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3726581	NM_000314.8(PTEN):c.385G>T (p.Gly129Ter)	PTEN (G129* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3726474	NM_000314.8(PTEN):c.212G>C (p.Cys71Ser)	PTEN (C244S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3726472	NM_000314.8(PTEN):c.267T>G (p.Pro89=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3726462	NM_000314.8(PTEN):c.786_787del (p.Asn262fs)	PTEN (N435fs +2 more)	Deletion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3726097	NM_000314.8(PTEN):c.801+13C>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3723710	NM_000314.8(PTEN):c.954T>A (p.Leu318=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3723709	NM_000314.8(PTEN):c.253+10A>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3723021	NM_000314.8(PTEN):c.505_506insAGTTACT (p.Pro169fs)	PTEN (P169fs +1 more)	Insertion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3723020	NM_000314.8(PTEN):c.503_504insGTG (p.Ile168delinsMetCys)	PTEN	Insertion (inframe_indel +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3722710	NM_000314.8(PTEN):c.475_479del (p.Arg159fs)	PTEN (R159fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3722363	NM_000314.8(PTEN):c.942del (p.Glu314fs)	PTEN (E314fs +2 more)	Deletion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3722016	NM_000314.8(PTEN):c.798_799inv (p.Lys266_Lys267delinsAsnTer)	PTEN	Inversion (nonsense)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3721990	NM_000314.8(PTEN):c.605_614del (p.Thr202fs)	PTEN (T5fs +2 more)	Deletion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3721867	NM_000314.8(PTEN):c.959_962del (p.Thr319_Leu320insTer)	PTEN	Deletion (nonsense)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3721755	NM_000314.8(PTEN):c.255_262del (p.Ala86fs)	PTEN (A86fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3721644	NM_000314.8(PTEN):c.685del (p.Ser229fs)	PTEN (S402fs +2 more)	Deletion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3721391	NM_000314.8(PTEN):c.989A>C (p.Lys330Thr)	PTEN (K503T +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3720994	NM_000314.8(PTEN):c.1027-11del	PTEN	Deletion (intron variant)	PTEN hamartoma tumor syndrome +1 more	GBenign/Likely benign
Select item 3720947	NM_000314.8(PTEN):c.697dup (p.Arg233fs)	PTEN (R233fs +2 more)	Duplication (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3720944	NM_000314.8(PTEN):c.314G>T (p.Cys105Phe)	PTEN (C105F +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3720747	NM_000314.8(PTEN):c.158T>G (p.Val53Gly)	PTEN (V226G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3720634	NM_000314.8(PTEN):c.1127A>C (p.His376Pro)	PTEN (H549P +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3720000	NM_000314.8(PTEN):c.349_351del (p.Asn117del)	PTEN (N290del +1 more)	Deletion (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3708849	NM_000314.8(PTEN):c.324T>C (p.Leu108=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 1 +2 more	GBenign/Likely benign
Select item 3708407	NM_000314.8(PTEN):c.51A>G (p.Gln17=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3707469	NM_000314.8(PTEN):c.513G>T (p.Gln171His)	PTEN (Q171H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3707295	NM_000314.8(PTEN):c.821G>C (p.Trp274Ser)	PTEN (W274S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3706954	NM_000314.8(PTEN):c.822G>T (p.Trp274Cys)	PTEN (W447C +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3700992	NM_000314.8(PTEN):c.1002C>T (p.Asn334=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3698221	NM_000314.8(PTEN):c.544T>C (p.Leu182=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GBenign/Likely benign
Select item 3695555	NM_000314.8(PTEN):c.209+11T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3692626	NM_000314.8(PTEN):c.434T>A (p.Phe145Tyr)	PTEN (F318Y +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3677718	NM_000314.8(PTEN):c.254-20A>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3675214	NM_000314.8(PTEN):c.209+14C>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3670717	NM_000314.8(PTEN):c.634+7G>T	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1 +1 more	GLikely benign
Select item 3669466	NM_000314.8(PTEN):c.634+20A>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3669092	NM_000314.8(PTEN):c.333G>T (p.Trp111Cys)	PTEN (W111C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3668490	NM_000314.8(PTEN):c.164+13T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3667044	NM_000314.8(PTEN):c.475A>T (p.Arg159Trp)	PTEN (R332W +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3667001	NM_000314.8(PTEN):c.635-17T>C	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1 +1 more	GLikely benign
Select item 3664891	NM_000314.8(PTEN):c.1027-18T>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3664471	NM_000314.8(PTEN):c.79dup (p.Tyr27fs)	PTEN (Y200fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3664459	NM_000314.8(PTEN):c.802-10T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3663585	NM_000314.8(PTEN):c.105G>T (p.Met35Ile)	PTEN (M208I +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 3663570	NM_000314.8(PTEN):c.446A>T (p.Gln149Leu)	PTEN (Q322L +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3663539	NM_000314.8(PTEN):c.1001A>C (p.Asn334Thr)	PTEN (N334T +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3662804	NM_000314.8(PTEN):c.176C>T (p.Ser59Leu)	PTEN (S232L +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3662351	NM_000314.8(PTEN):c.845G>C (p.Gly282Ala)	PTEN (G455A +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3662212	NM_000314.8(PTEN):c.696A>G (p.Thr232=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +1 more	GBenign/Likely benign
Select item 3662210	NM_000314.8(PTEN):c.437dup (p.Leu146fs)	PTEN (L319fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3661951	NM_000314.8(PTEN):c.929A>T (p.Asp310Val)	PTEN (D310V +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3660430	NM_000314.8(PTEN):c.801G>A (p.Lys267=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3660396	NM_000314.8(PTEN):c.253+18G>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3660310	NM_000314.8(PTEN):c.464A>T (p.Tyr155Phe)	PTEN (Y155F +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3660303	NM_000314.8(PTEN):c.658del (p.Gln219_Leu220insTer)	PTEN	Deletion (nonsense)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3660164	NM_000314.8(PTEN):c.1032G>A (p.Lys344=)	PTEN	Single nucleotide variant (synonymous variant)	Cowden syndrome 1 +2 more	GBenign/Likely benign
Select item 3658584	NM_000314.8(PTEN):c.922dup (p.Arg308fs)	PTEN (R111fs +2 more)	Duplication (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3658575	NM_000314.8(PTEN):c.79+10T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3657290	NM_000314.8(PTEN):c.679_680insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCGCGGGGGGGGGGGGGGGTGGGGTGGGGGGGTGGGGGGGGGGGGGGGGGGGGCGGGGGTGAGGGAGAGGGAGAGGGAGAGGGAGAGCAGATATATTCCT (p.Ser227fs)	PTEN (S30fs +2 more)	Insertion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3655759	NM_000314.8(PTEN):c.823_824dup (p.Val275_Asn276insTer)	PTEN	Duplication (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3655100	NM_000314.8(PTEN):c.79+9T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3654660	NM_000314.8(PTEN):c.561_634+54del	PTEN	Deletion (splice donor variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3654613	NM_000314.8(PTEN):c.80-13_80-9del	PTEN	Deletion (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3654598	NM_000314.8(PTEN):c.373A>T (p.Lys125Ter)	PTEN (K125* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3654135	NM_000314.8(PTEN):c.860C>T (p.Ser287Leu)	PTEN (S287L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3652625	NM_000314.8(PTEN):c.493-16T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3652409	NM_000314.8(PTEN):c.1165A>G (p.Asn389Asp)	PTEN (N192D +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3652183	NM_000314.8(PTEN):c.801+5G>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3652091	NM_000314.8(PTEN):c.366_370dup (p.Cys124fs)	PTEN (C124fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3651754	NM_000314.8(PTEN):c.845_846insT (p.Pro283fs)	PTEN (P283fs +2 more)	Insertion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3651741	NM_000314.8(PTEN):c.210-3T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3650464	NM_000314.8(PTEN):c.974_975insC (p.Leu325_Asp326insTer)	PTEN	Insertion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3650080	NM_000314.8(PTEN):c.52G>T (p.Glu18Ter)	PTEN (E18* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3649636	NM_000314.8(PTEN):c.635-7del	PTEN	Deletion (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3649417	NM_000314.8(PTEN):c.938A>C (p.Lys313Thr)	PTEN (K313T +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3649124	NM_000314.8(PTEN):c.631dup (p.Cys211fs)	PTEN (C384fs +2 more)	Duplication (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3648960	NM_000314.8(PTEN):c.94del (p.Ile32fs)	PTEN (I205fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3648820	NM_000314.8(PTEN):c.25G>C (p.Val9Leu)	PTEN (V9L +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3648147	NM_000314.8(PTEN):c.532_535dup (p.Ser179delinsIleTer)	PTEN	Microsatellite (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3647747	NM_000314.8(PTEN):c.705_707del (p.Glu235del)	PTEN (E235del +2 more)	Deletion	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3647581	NM_000314.8(PTEN):c.1004G>C (p.Arg335Pro)	PTEN (R508P +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3647380	NM_000314.8(PTEN):c.794_799del (p.Leu265_Lys267delinsGln)	PTEN	Deletion (inframe_indel)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3646838	NM_000314.8(PTEN):c.35dup (p.Asn12fs)	PTEN (N185fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic

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