CN072330[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 42

	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 488715	NM_000314.8(PTEN):c.-1206G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1 +5 more	GUncertain significance
Select item 127663	NM_001126049.2(KLLN):c.-792C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
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 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 141864	NM_001126049.2(KLLN):c.-845C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +6 more	GConflicting classifications of pathogenicity
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 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 127681	NM_000314.8(PTEN):c.-910T>C	LOC130004273, PTEN	Single nucleotide 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	Hereditary cancer +10 more	GConflicting classifications of pathogenicity
Select item 488769	NM_000314.8(PTEN):c.-860A>G	PTEN, KLLN +1 more	Single nucleotide variant	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
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 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 1692372	NM_000314.8(PTEN):c.-752GGC[4]	PTEN	Microsatellite (5 prime UTR variant)	Familial meningioma +5 more	GUncertain significance
Select item 827097	NM_000314.8(PTEN):c.-752G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	Macrocephaly-autism syndrome +6 more	GUncertain significance
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 301420	NM_000314.8(PTEN):c.-121A>G	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome +5 more	GUncertain significance
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 7826	NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)	PTEN (L70P +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 418434	NM_000314.8(PTEN):c.209+1G>A	PTEN	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
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 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 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 428235	NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)	PTEN (I135K +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +5 more	GPathogenic/Likely pathogenic
Select item 186180	NM_000314.8(PTEN):c.488A>G (p.Lys163Arg)	PTEN (K163R +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome +6 more	GUncertain significance
Select item 189412	NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)	PTEN (Q171R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 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 1481095	NM_000314.8(PTEN):c.593T>C (p.Met198Thr)	PTEN (M198T +2 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +6 more	GUncertain significance
Select item 280031	NM_000314.8(PTEN):c.634+5G>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 142259	NM_000314.8(PTEN):c.741dup (p.Pro248fs)	PTEN (P51fs +2 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 92832	NM_000314.8(PTEN):c.802-4_802-3dup	PTEN	Duplication (intron variant)	Glioma susceptibility 2 +7 more	GBenign/Likely benign
Select item 92831	NM_000314.8(PTEN):c.802-3dup	PTEN	Duplication (intron variant)	Macrocephaly-autism syndrome +8 more	GBenign
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 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 420367	NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)	PTEN (R308C +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
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 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 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

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Items: 42