C1854416[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 825730	NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)	PTEN (L181P +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
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 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 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)	Malignant tumor of prostate +12 more	GPathogenic OOncogenic
Select item 209187	NM_000314.8(PTEN):c.1048dup (p.Thr350fs)	PTEN (T350fs +2 more)	Duplication (frameshift variant)	Macrocephaly-autism syndrome	GPathogenic
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