"Herman Laboratory, Nationwide Children's Hospital"[submitter] AND "PT - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 427586	NM_000314.8(PTEN):c.35A>C (p.Asn12Thr)	PTEN (N12T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 427589	NM_000314.8(PTEN):c.40A>G (p.Arg14Gly)	PTEN (R14G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 427582	NM_000314.8(PTEN):c.131G>A (p.Gly44Asp)	PTEN (G44D +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GPathogenic
Select item 427583	NM_000314.8(PTEN):c.164+1G>C	PTEN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 427584	NM_000314.8(PTEN):c.165-2A>G	PTEN	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GPathogenic
Select item 189402	NM_000314.8(PTEN):c.182A>G (p.His61Arg)	PTEN (H61R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 427585	NM_000314.8(PTEN):c.253+1G>C	PTEN	Single nucleotide variant (splice donor variant)	Cowden syndrome 1 +2 more	GPathogenic
Select item 189403	NM_000314.8(PTEN):c.284C>T (p.Pro95Leu)	PTEN (P95L +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 427579	NM_000314.8(PTEN):c.316G>T (p.Glu106Ter)	PTEN (E106* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 372481	NM_000314.8(PTEN):c.320A>T (p.Asp107Val)	PTEN (D107V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 427587	NM_000314.8(PTEN):c.369C>G (p.His123Gln)	PTEN (H123Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GPathogenic/Likely pathogenic
Select item 7812	NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)	PTEN (G129E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +9 more	GPathogenic OOncogenic
Select item 427588	NM_000314.8(PTEN):c.401T>C (p.Met134Thr)	PTEN (M134T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GPathogenic/Likely pathogenic
Select item 427590	NM_000314.8(PTEN):c.416T>G (p.Leu139Ter)	PTEN (L139* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 427592	NM_000314.8(PTEN):c.420dup (p.His141fs)	PTEN (H314fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 427593	NM_000314.8(PTEN):c.470A>G (p.Glu157Gly)	PTEN (E157G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor 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 376032	NM_000314.8(PTEN):c.518G>A (p.Arg173His)	PTEN (R173H +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 427594	NM_000314.8(PTEN):c.520dup (p.Tyr174fs)	PTEN (Y347fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 427595	NM_000314.8(PTEN):c.605C>T (p.Thr202Ile)	PTEN (T202I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 427596	NM_000314.8(PTEN):c.607_608del (p.Ile203fs)	PTEN (I203fs +2 more)	Deletion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 427597	NM_000314.8(PTEN):c.617_621del (p.Phe206fs)	PTEN (F206fs +2 more)	Deletion (frameshift variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 427599	NM_000314.8(PTEN):c.635-3C>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 427598	NM_000314.8(PTEN):c.635-1G>A	PTEN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 427591	NM_000314.8(PTEN):c.667A>T (p.Lys223Ter)	PTEN (K223* +2 more)	Single nucleotide variant (nonsense)	PTEN hamartoma tumor syndrome +2 more	GPathogenic
Select item 7813	NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	PTEN (R233* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic/Likely pathogenic
Select item 186396	NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)	PTEN (Q245* +2 more)	Single nucleotide variant (nonsense)	PTEN hamartoma tumor syndrome +4 more	GPathogenic OLikely oncogenic
Select item 427600	NM_000314.8(PTEN):c.821G>T (p.Trp274Leu)	PTEN (W274L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 7833	NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	PTEN (R335* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic OOncogenic
Select item 427580	NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln)	PTEN (R335Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 427581	NM_000314.8(PTEN):c.1027-2A>G	PTEN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 427601	Single allele	KLLN, PTEN	Duplication	PTEN hamartoma tumor syndrome	GPathogenic

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Items: 33