"Counsyl"[submitter] AND "PTEN"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 140783	NM_001126049.2(KLLN):c.-812G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 127662	NM_001126049.2(KLLN):c.-812G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 548816	NM_001126049.2(KLLN):c.-887C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1	GUncertain significance
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 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 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 548871	NM_000314.8(PTEN):c.-500GGC[6]	PTEN	Microsatellite (5 prime UTR variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 301421	NM_000314.8(PTEN):c.-111G>T	PTEN (A137S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GUncertain significance
Select item 92808	NM_000314.8(PTEN):c.-9C>G	PTEN (L171V)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 184104	NM_000314.8(PTEN):c.78C>T (p.Thr26=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 492343	NM_000314.8(PTEN):c.79+23_79+25del	PTEN	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 189425	NM_000314.8(PTEN):c.165-24TTTG[2]	PTEN	Microsatellite (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 492320	NM_000314.8(PTEN):c.165-8_165-4del	PTEN	Microsatellite (intron variant)	PTEN hamartoma tumor syndrome +3 more	GLikely benign
Select item 372041	NM_000314.8(PTEN):c.210-26A>T	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1	GLikely benign
Select item 372033	NM_000314.8(PTEN):c.210-26A>G	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1	GLikely benign
Select item 371877	NM_000314.8(PTEN):c.210-17T>C	PTEN	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 548913	NM_000314.8(PTEN):c.210-12C>T	PTEN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 142397	NM_000314.8(PTEN):c.210-7_210-3del	PTEN	Microsatellite (intron variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 379793	NM_000314.8(PTEN):c.210-9T>C	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 127691	NM_000314.8(PTEN):c.234C>T (p.Thr78=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 404155	NM_000314.8(PTEN):c.235G>T (p.Ala79Ser)	PTEN (A79S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GUncertain significance
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 187128	NM_000314.8(PTEN):c.261A>G (p.Gln87=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 548752	NM_000314.8(PTEN):c.300dup (p.Ile101fs)	PTEN (I101fs +1 more)	Duplication (frameshift variant +1 more)	Cowden syndrome 1	GPathogenic/Likely pathogenic
Select item 548789	NM_000314.8(PTEN):c.304_308dup (p.Phe104fs)	PTEN (F277fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Glioma susceptibility 2 +8 more	GPathogenic
Select item 548788	NM_000314.8(PTEN):c.493-12dup	PTEN	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 135911	NM_000314.8(PTEN):c.579G>A (p.Leu193=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 404146	NM_000314.8(PTEN):c.613A>G (p.Met205Val)	PTEN (M205V +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 7836	NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)	PTEN (C211* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 548830	NM_000314.8(PTEN):c.635-16G>A	PTEN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 183876	NM_000314.8(PTEN):c.720C>T (p.Tyr240=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 142269	NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)	PTEN (P246L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 215734	NM_000314.8(PTEN):c.738G>A (p.Pro246=)	PTEN	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 372052	NM_000314.8(PTEN):c.801+8C>G	PTEN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 92829	NM_000314.8(PTEN):c.801+23G>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 548858	NM_000314.8(PTEN):c.802-54_802-16del	PTEN	Deletion (intron variant)	Cowden syndrome 1	GLikely benign
Select item 138838	NM_000314.8(PTEN):c.802-12T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome +3 more	GBenign/Likely benign
Select item 135912	NM_000314.8(PTEN):c.802-3T>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance 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 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 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 7833	NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	PTEN (R335* +2 more)	Single nucleotide variant (nonsense)	Cowden syndrome 1 +11 more	GPathogenic
Select item 548724	NM_000314.8(PTEN):c.1004G>T (p.Arg335Leu)	PTEN (R335L +2 more)	Single nucleotide variant (missense variant)	Cowden syndrome 1	GUncertain significance
Select item 371895	NM_000314.8(PTEN):c.1026+38dup	PTEN	Duplication (intron variant)	Cowden syndrome 1	GLikely benign
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 234861	NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr)	PTEN (P357T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 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 185739	NM_000314.8(PTEN):c.1197A>G (p.Gln399=)	PTEN	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 548800	NM_000314.8(PTEN):c.*10dup	PTEN	Duplication (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 189424	NM_000314.8(PTEN):c.*10del	PTEN	Deletion (3 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database

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Items: 54