CN072330[trait identifier] AND "Mendelics"[submitter] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802024	NM_006218.4(PIK3CA):c.-138C>T	PIK3CA	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1	GLikely benign
Select item 526644	NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 698098	NM_006218.4(PIK3CA):c.1060-9T>C	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome 1 +2 more	GLikely benign
Select item 802025	NM_006218.4(PIK3CA):c.1146-30G>A	PIK3CA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 802026	NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome 1 +1 more	GLikely benign
Select item 246679	NM_006218.4(PIK3CA):c.1747-9C>T	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome 1 +2 more	GBenign/Likely benign
Select item 698506	NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)	PIK3CA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 802027	NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln)	PIK3CA (R617Q)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GUncertain significance
Select item 802028	NM_006218.4(PIK3CA):c.2016-29A>T	PIK3CA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 802029	NM_006218.4(PIK3CA):c.2016-12C>T	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome +2 more	GBenign
Select item 546952	NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 802030	NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)	PIK3CA (L866W)	Single nucleotide variant (missense variant)	Cowden syndrome 1	GLikely pathogenic
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GPathogenic
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 141949	NM_000314.6(PTEN):c.-868G>C	LOC130004273, PTEN	Single nucleotide variant	Macrocephaly-autism syndrome +9 more	GConflicting classifications of pathogenicity
Select item 1686106	NM_000314.8(PTEN):c.2T>C (p.Met1Thr)	PTEN (M174T +1 more)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 1	GPathogenic
Select item 208723	NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)	PTEN (D24G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
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 496970	NM_000314.8(PTEN):c.80-1_80del	PTEN	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 536558	NM_000314.8(PTEN):c.105G>A (p.Met35Ile)	PTEN (M35I +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 584751	NM_000314.8(PTEN):c.209+2T>C	PTEN	Single nucleotide variant (splice donor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 189484	NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)	PTEN (G129R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 1686107	NM_000314.8(PTEN):c.499A>G (p.Thr167Ala)	PTEN (T167A +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1	GPathogenic
Select item 189414	NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)	PTEN (F200S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 404146	NM_000314.8(PTEN):c.613A>G (p.Met205Val)	PTEN (M205V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 7836	NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)	PTEN (C211* +2 more)	Single nucleotide variant (nonsense)	PTEN-related condition +4 more	GPathogenic
Select item 1686108	NM_000314.8(PTEN):c.739_740insAGT (p.Leu247Ter)	PTEN (L247* +2 more)	Insertion (nonsense)	Cowden syndrome 1	GPathogenic
Select item 92831	NM_000314.8(PTEN):c.802-3dup	PTEN	Duplication (intron variant)	Malignant tumor of prostate +8 more	GBenign
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 1685418	NC_000010.11:g.87965287del	PTEN	Deletion	Cowden syndrome 1	GLikely pathogenic
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

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Items: 33