"Ambry Genetics"[submitter] AND "PES1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305820	NM_014303.4(PES1):c.1679G>A (p.Arg560Gln)	PES1 (R555Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403700	NM_014303.4(PES1):c.1628G>A (p.Arg543Gln)	PES1 (R404Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391032	NM_014303.4(PES1):c.1483C>G (p.Arg495Gly)	PES1 (R490G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211468	NM_014303.4(PES1):c.1423G>A (p.Gly475Arg)	PES1 (G336R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466073	NM_014303.4(PES1):c.1364A>G (p.Asn455Ser)	PES1 (N455S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397336	NM_014303.4(PES1):c.1347G>T (p.Glu449Asp)	PES1 (E310D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547682	NM_014303.4(PES1):c.1343G>A (p.Gly448Glu)	PES1 (G443E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229727	NM_014303.4(PES1):c.1340G>A (p.Arg447Gln)	PES1 (R447Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259144	NM_014303.4(PES1):c.1276T>C (p.Phe426Leu)	PES1 (F426L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510260	NM_014303.4(PES1):c.1228G>A (p.Val410Met)	PES1 (V410M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211467	NM_014303.4(PES1):c.1163T>C (p.Ile388Thr)	PES1 (I249T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211466	NM_014303.4(PES1):c.1114C>T (p.Arg372Cys)	PES1 (R233C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463441	NM_014303.4(PES1):c.1112C>T (p.Ser371Phe)	PES1 (S366F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211465	NM_014303.4(PES1):c.1088G>T (p.Gly363Val)	PES1 (G358V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509208	NM_014303.4(PES1):c.956C>T (p.Ala319Val)	PES1 (A180V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211473	NM_014303.4(PES1):c.923C>T (p.Ala308Val)	PES1 (A169V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266766	NM_014303.4(PES1):c.910G>A (p.Gly304Arg)	PES1 (G165R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359325	NM_014303.4(PES1):c.897G>C (p.Glu299Asp)	PES1 (E299D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305821	NM_014303.4(PES1):c.833C>T (p.Ala278Val)	PES1 (A278V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332194	NM_014303.4(PES1):c.796G>A (p.Ala266Thr)	PES1 (A127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211472	NM_014303.4(PES1):c.794A>G (p.Tyr265Cys)	PES1 (Y265C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389474	NM_014303.4(PES1):c.751G>A (p.Glu251Lys)	PES1 (E112K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389024	NM_014303.4(PES1):c.743C>T (p.Pro248Leu)	PES1 (P248L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305822	NM_014303.4(PES1):c.710G>A (p.Arg237His)	PES1 (R237H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211471	NM_014303.4(PES1):c.709C>T (p.Arg237Cys)	PES1 (R237C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236188	NM_014303.4(PES1):c.557A>G (p.Lys186Arg)	PES1 (K186R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320331	NM_014303.4(PES1):c.535C>T (p.Arg179Cys)	PES1 (R179C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375203	NM_014303.4(PES1):c.527G>A (p.Arg176His)	PES1 (R176H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477139	NM_014303.4(PES1):c.491T>C (p.Leu164Pro)	PES1 (L164P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354623	NM_014303.4(PES1):c.488G>A (p.Arg163Gln)	PES1 (R24Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211470	NM_014303.4(PES1):c.443C>T (p.Pro148Leu)	PES1 (P148L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358030	NM_014303.4(PES1):c.394C>T (p.Arg132Trp)	PES1 (R132W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211469	NM_014303.4(PES1):c.329A>G (p.Asn110Ser)	LOC126863119, PES1 (N110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557560	NM_014303.4(PES1):c.298G>A (p.Glu100Lys)	LOC126863119, PES1 (E100K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254782	NM_014303.4(PES1):c.256A>C (p.Lys86Gln)	PES1 (K86Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540887	NM_014303.4(PES1):c.250G>A (p.Glu84Lys)	PES1 (E84K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241699	NM_014303.4(PES1):c.248G>A (p.Arg83His)	PES1 (R83H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345219	NM_014303.4(PES1):c.175A>G (p.Thr59Ala)	PES1 (T59A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336495	NM_014303.4(PES1):c.127A>G (p.Ile43Val)	PES1 (I43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412170	NM_014303.4(PES1):c.71G>A (p.Arg24Gln)	PES1 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464110	NM_014303.4(PES1):c.56C>T (p.Thr19Ile)	PES1 (T19I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542891	NM_014303.4(PES1):c.32G>A (p.Arg11Gln)	PES1 (R11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 42