C1848599[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488964	NM_000314.4(PTEN):c.-1246C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	VACTERL with hydrocephalus +7 more	GUncertain significance
Select item 187362	NM_000314.4(PTEN):c.-1154G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Macrocephaly-autism syndrome +8 more	GUncertain significance
Select item 127682	NM_000314.6(PTEN):c.-943C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 141949	NM_000314.6(PTEN):c.-868G>C	LOC130004273, PTEN	Single nucleotide variant	Hereditary cancer +10 more	GConflicting classifications of pathogenicity
Select item 234510	NM_000314.8(PTEN):c.-822G>T	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +7 more	GUncertain significance
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 189528	NM_000314.8(PTEN):c.-666G>A	LOC130004274, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 468676	NM_000314.8(PTEN):c.253+2T>A	PTEN	Single nucleotide variant (splice donor variant)	PTEN hamartoma tumor syndrome +6 more	GPathogenic
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 216987	NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)	PTEN (S287* +2 more)	Single nucleotide variant (nonsense)	Familial meningioma +8 more	GPathogenic/Likely pathogenic
Select item 484603	NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)	PTEN (E288K +2 more)	Single nucleotide variant (missense variant)	Familial meningioma +7 more	GUncertain significance
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 633693	NM_002968.3(SALL1):c.602A>G (p.Gln201Arg)	SALL1 (Q201R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance