"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1053430	NM_000314.8(PTEN):c.133G>A (p.Val45Ile)	PTEN (V218I +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 189464	NM_000314.8(PTEN):c.160G>A (p.Val54Ile)	PTEN (V54I +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 189476	NM_000314.8(PTEN):c.206A>G (p.Asn69Ser)	PTEN (N69S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 404155	NM_000314.8(PTEN):c.235G>T (p.Ala79Ser)	PTEN (A79S +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 428229	NM_000314.8(PTEN):c.328C>G (p.Gln110Glu)	PTEN (Q110E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 849802	NM_000314.8(PTEN):c.348C>A (p.Asp116Glu)	PTEN (D116E +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
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 197662	NM_000314.8(PTEN):c.424C>T (p.Arg142Trp)	PTEN (R142W +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 237646	NM_000314.8(PTEN):c.425G>A (p.Arg142Gln)	PTEN (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 490113	NM_000314.8(PTEN):c.440A>G (p.Lys147Arg)	PTEN (K147R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +3 more	GConflicting classifications of pathogenicity
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 1037500	NM_000314.8(PTEN):c.472G>T (p.Val158Leu)	PTEN (V158L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 481129	NM_000314.8(PTEN):c.538T>C (p.Tyr180His)	PTEN (Y180H +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1750675	NM_000314.8(PTEN):c.594G>A (p.Met198Ile)	PTEN (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 919891	NM_000314.8(PTEN):c.595A>T (p.Met199Leu)	PTEN (M199L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 629479	NM_000314.8(PTEN):c.595A>G (p.Met199Val)	PTEN (M199V +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 578650	NM_000314.8(PTEN):c.607A>G (p.Ile203Val)	PTEN (I203V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 480381	NM_000314.8(PTEN):c.614T>C (p.Met205Thr)	PTEN (M205T +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 490114	NM_000314.8(PTEN):c.625G>A (p.Gly209Arg)	PTEN (G209R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 928466	NM_000314.8(PTEN):c.659T>C (p.Leu220Pro)	PTEN (L23P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 231899	NM_000314.8(PTEN):c.673T>C (p.Tyr225His)	PTEN (Y225H +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 404154	NM_000314.8(PTEN):c.683A>G (p.Asn228Ser)	PTEN (N228S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 141771	NM_000314.8(PTEN):c.685T>A (p.Ser229Thr)	PTEN (S229T +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 376510	NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)	PTEN (R233Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 184844	NM_000314.8(PTEN):c.700C>T (p.Arg234Trp)	PTEN (R234W +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 826884	NM_000314.8(PTEN):c.716T>C (p.Met239Thr)	PTEN (M412T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1332212	NM_000314.8(PTEN):c.743C>G (p.Pro248Arg)	PTEN (P248R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 404167	NM_000314.8(PTEN):c.779A>G (p.Lys260Arg)	PTEN (K260R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 184466	NM_000314.8(PTEN):c.841C>G (p.Pro281Ala)	PTEN (P281A +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 484617	NM_000314.8(PTEN):c.881G>A (p.Ser294Asn)	PTEN (S294N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
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 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 233963	NM_000314.8(PTEN):c.901G>A (p.Asp301Asn)	PTEN (D301N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1501773	NM_000314.8(PTEN):c.904A>G (p.Ser302Gly)	PTEN (S105G +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 486226	NM_000314.8(PTEN):c.905G>A (p.Ser302Asn)	PTEN (S302N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 230633	NM_000314.8(PTEN):c.908T>G (p.Ile303Ser)	PTEN (I303S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 230819	NM_000314.8(PTEN):c.913A>G (p.Ser305Gly)	PTEN (S305G +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 185517	NM_000314.8(PTEN):c.919G>C (p.Glu307Gln)	PTEN (E307Q +2 more)	Single nucleotide variant (missense variant)	not provided +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)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 184506	NM_000314.8(PTEN):c.923G>A (p.Arg308His)	PTEN (R308H +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +3 more	GConflicting classifications of pathogenicity
Select item 216423	NM_000314.8(PTEN):c.935A>G (p.Asp312Gly)	PTEN (D312G +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +3 more	GConflicting classifications of pathogenicity
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 1317087	NM_000314.8(PTEN):c.956C>T (p.Thr319Ile)	PTEN (T122I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 490110	NM_000314.8(PTEN):c.1001A>G (p.Asn334Ser)	PTEN (N334S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 189510	NM_000314.8(PTEN):c.1018A>C (p.Asn340His)	PTEN (N340H +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1780374	NM_000314.8(PTEN):c.1061C>G (p.Pro354Arg)	PTEN (P157R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
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 142212	NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu)	PTEN (P354L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
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 234861	NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr)	PTEN (P357T +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +3 more	GConflicting classifications of pathogenicity
Select item 231962	NM_000314.8(PTEN):c.1074G>C (p.Glu358Asp)	PTEN (E358D +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 140777	NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)	PTEN (S360G +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
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 484607	NM_000314.8(PTEN):c.1087A>G (p.Thr363Ala)	PTEN (T363A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 818353	NM_000314.8(PTEN):c.1088C>T (p.Thr363Ile)	PTEN (T363I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1022675	NM_000314.8(PTEN):c.1090T>C (p.Ser364Pro)	PTEN (S167P +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 857491	NM_000314.8(PTEN):c.1091C>G (p.Ser364Cys)	PTEN (S167C +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 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 468670	NM_000314.8(PTEN):c.1115A>G (p.Asn372Ser)	PTEN (N372S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 490112	NM_000314.8(PTEN):c.1172C>T (p.Pro391Leu)	PTEN (P391L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 422815	NM_000314.8(PTEN):c.1206A>C (p.Lys402Asn)	PTEN (K402N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity

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Items: 67