C2751642[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 141717	NM_000314.8(PTEN):c.-931G>A	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome	GUncertain significance 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 422735	NM_000314.8(PTEN):c.-39TC[2]	PTEN (L162fs)	Microsatellite (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 7834	NM_000314.8(PTEN):c.40dup (p.Arg14fs)	PTEN (R14fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 3240229	NM_000314.8(PTEN):c.48_50del (p.Tyr16_Gln17delinsTer)	PTEN	Deletion (nonsense +1 more)	Glioma susceptibility 2	GLikely pathogenic
Select item 1052223	NM_000314.8(PTEN):c.89C>T (p.Pro30Leu)	PTEN (P203L +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +1 more	GUncertain significance
Select item 185863	NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg)	PTEN	Indel (missense variant +1 more)	Glioma susceptibility 2 +2 more	GPathogenic/Likely pathogenic
Select item 373446	NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)	PTEN (R47K +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 580731	NM_000314.8(PTEN):c.144C>A (p.Asn48Lys)	PTEN (N48K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 492727	NM_000314.8(PTEN):c.149T>C (p.Ile50Thr)	PTEN (I50T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 1777347	NM_000314.8(PTEN):c.165-5T>G	PTEN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3240232	NM_000314.8(PTEN):c.192T>G (p.His64Gln)	PTEN (H237Q +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2	GUncertain significance
Select item 189474	NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	PTEN (Y68H +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +7 more	GPathogenic/Likely pathogenic
Select item 196250	NM_000314.8(PTEN):c.208C>T (p.Leu70Phe)	PTEN (L70F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 7820	NM_000314.8(PTEN):c.253+1G>A	PTEN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic OOncogenic
Select item 427618	NM_000314.8(PTEN):c.253+5G>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome +3 more	GLikely pathogenic OOncogenic
Select item 2678093	NM_000314.8(PTEN):c.278_322del (p.His93_Asp107del)	PTEN	Deletion (inframe deletion +1 more)	Glioma susceptibility 2	GLikely pathogenic
Select item 404143	NM_000314.8(PTEN):c.293T>G (p.Leu98Arg)	PTEN (L98R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 822443	NM_000314.8(PTEN):c.298C>G (p.Leu100Val)	PTEN (L273V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 428203	NM_000314.8(PTEN):c.328C>T (p.Gln110Ter)	PTEN (Q110* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome +3 more	GPathogenic
Select item 185588	NM_000314.8(PTEN):c.349A>C (p.Asn117His)	PTEN (N117H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2678097	NM_000314.8(PTEN):c.353_354insGA (p.His118fs)	PTEN (H118fs +1 more)	Insertion (frameshift variant +1 more)	Glioma susceptibility 2	GLikely pathogenic
Select item 2678099	NM_000314.8(PTEN):c.359del (p.Ala120fs)	PTEN (A120fs +1 more)	Deletion (frameshift variant +1 more)	Glioma susceptibility 2	GLikely pathogenic
Select item 2447220	NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)	PTEN (C124S +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 428234	NM_000314.8(PTEN):c.377C>T (p.Ala126Val)	PTEN (A126V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 958105	NM_000314.8(PTEN):c.382A>G (p.Lys128Glu)	PTEN (K128E +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +2 more	GLikely pathogenic
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate +8 more	GPathogenic OOncogenic
Select item 92822	NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)	PTEN (G132D +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 7852	NM_000314.8(PTEN):c.395G>T (p.Gly132Val)	PTEN (G132V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 183726	NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)	PTEN (C136R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +5 more	GPathogenic/Likely pathogenic
Select item 2678094	NM_000314.8(PTEN):c.412dup (p.Tyr138fs)	PTEN (Y138fs +1 more)	Duplication (frameshift variant +1 more)	Glioma susceptibility 2	GPathogenic
Select item 1476274	NM_000314.8(PTEN):c.451G>A (p.Ala151Thr)	PTEN (A151T +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +2 more	GUncertain significance
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 3240230	NM_000314.8(PTEN):c.467G>T (p.Gly156Val)	PTEN (G156V +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +1 more	GUncertain significance OLikely oncogenic
Select item 2678098	NM_000314.8(PTEN):c.473_476dup (p.Arg159fs)	PTEN (R159fs +1 more)	Duplication (frameshift variant +1 more)	Glioma susceptibility 2	GLikely pathogenic
Select item 569099	NM_000314.8(PTEN):c.490_491del (p.Lys164fs)	PTEN (K164fs +1 more)	Deletion (frameshift variant +1 more)	Cowden syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 428256	NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)	PTEN (G165R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 187015	NM_000314.8(PTEN):c.496G>A (p.Val166Ile)	PTEN (V166I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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 185585	NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys)	PTEN (Y176C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 492733	NM_000314.8(PTEN):c.565A>T (p.Arg189Ter)	PTEN (R189* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome +2 more	GPathogenic
Select item 404146	NM_000314.8(PTEN):c.613A>G (p.Met205Val)	PTEN (M205V +2 more)	Single nucleotide variant (missense variant)	Cowden syndrome 1 +4 more	GUncertain significance
Select item 838223	NM_000314.8(PTEN):c.622G>A (p.Gly208Ser)	PTEN (G381S +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2 +2 more	GUncertain significance
Select item 2678095	NM_000314.8(PTEN):c.635-5T>G	PTEN	Single nucleotide variant (intron variant)	Glioma susceptibility 2	GUncertain significance
Select item 1330017	NM_000314.8(PTEN):c.677C>T (p.Ser226Phe)	PTEN (S226F +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 7813	NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	PTEN (R233* +2 more)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 7840	NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)	PTEN (R234Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 2678096	NM_000314.8(PTEN):c.703G>A (p.Glu235Lys)	PTEN (E235K +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2	GUncertain significance
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 627703	NM_000314.8(PTEN):c.823G>A (p.Val275Ile)	PTEN (V275I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 468719	NM_000314.8(PTEN):c.838A>G (p.Ile280Val)	PTEN (I280V +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 923099	NM_000314.8(PTEN):c.848C>T (p.Pro283Leu)	PTEN (P283L +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2 +2 more	GUncertain significance
Select item 3240231	NM_000314.8(PTEN):c.874A>G (p.Asn292Asp)	PTEN (N292D +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2	GUncertain significance
Select item 185480	NM_000314.8(PTEN):c.886T>C (p.Cys296Arg)	PTEN (C296R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 404163	NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr)	PTEN (C296Y +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2 +3 more	GConflicting classifications of pathogenicity
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 234182	NM_000314.8(PTEN):c.906C>G (p.Ser302Arg)	PTEN (S302R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 452024	NM_000314.8(PTEN):c.941A>C (p.Glu314Ala)	PTEN (E314A +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 7833	NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	PTEN (R335* +2 more)	Single nucleotide variant (nonsense)	Malignant tumor of prostate +12 more	GPathogenic OOncogenic
Select item 562182	NM_000314.8(PTEN):c.1012del (p.Ser338fs)	PTEN (S338fs +2 more)	Deletion (frameshift variant)	Cowden syndrome 1 +1 more	GPathogenic
Select item 3240233	NM_000314.8(PTEN):c.1056G>T (p.Glu352Asp)	PTEN (E155D +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2	GUncertain significance
Select item 189397	NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr)	PTEN (N356Y +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 142263	NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp)	PTEN (N356D +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2 +4 more	GConflicting classifications of pathogenicity
Select item 2567280	NM_000314.8(PTEN):c.1070C>T (p.Pro357Leu)	PTEN (P357L +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2 +1 more	GUncertain significance
Select item 492314	NM_000314.8(PTEN):c.1081A>C (p.Ser361Arg)	PTEN (S361R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 237639	NM_000314.8(PTEN):c.1093G>A (p.Val365Ile)	PTEN (V365I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 1481386	NM_000314.8(PTEN):c.1131_1132del (p.Tyr377_Arg378delinsTer)	PTEN	Microsatellite (nonsense)	Glioma susceptibility 2 +1 more	GUncertain significance
Select item 186450	NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe)	PTEN (Y377F +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +3 more	GConflicting classifications of pathogenicity
Select item 187673	NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser)	PTEN (P391S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 818542	NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)	PTEN (H397Y +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2 +6 more	GUncertain significance
Select item 216420	NM_000314.8(PTEN):c.1198A>G (p.Ile400Val)	PTEN (I400V +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2 +3 more	GUncertain significance

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Items: 73