"Ambry Genetics"[submitter] AND "PUM2"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3149794	NM_015317.5(PUM2):c.3119C>T (p.Ala1040Val)	PUM2 (A1042V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149793	NM_015317.5(PUM2):c.3092A>G (p.Lys1031Arg)	PUM2 (K1031R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514937	NM_015317.5(PUM2):c.3055A>G (p.Met1019Val)	PUM2 (M793V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357181	NM_015317.5(PUM2):c.3026T>C (p.Met1009Thr)	PUM2 (M953T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149792	NM_015317.5(PUM2):c.3025A>G (p.Met1009Val)	PUM2 (M874V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243624	NM_015317.5(PUM2):c.2905C>G (p.Arg969Gly)	PUM2 (R913G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149791	NM_015317.5(PUM2):c.2804A>G (p.Asp935Gly)	PUM2 (D800G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339148	NM_015317.5(PUM2):c.2467A>G (p.Ile823Val)	PUM2 (I688V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530979	NM_015317.5(PUM2):c.2255C>T (p.Thr752Ile)	PUM2 (T696I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337590	NM_015317.5(PUM2):c.2125A>G (p.Arg709Gly)	PUM2 (R574G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211252	NM_015317.5(PUM2):c.1921C>T (p.Leu641Phe)	PUM2 (L585F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149789	NM_015317.5(PUM2):c.1765T>A (p.Ser589Thr)	PUM2 (S533T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602754	NM_015317.5(PUM2):c.1758G>T (p.Glu586Asp)	PUM2 (E530D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411334	NM_015317.5(PUM2):c.1702A>G (p.Ser568Gly)	PUM2 (S512G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311727	NM_015317.5(PUM2):c.1664G>A (p.Ser555Asn)	PUM2 (S499N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284955	NM_015317.5(PUM2):c.1606A>G (p.Ser536Gly)	PUM2 (S310G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281742	NM_015317.5(PUM2):c.1493T>A (p.Leu498Gln)	PUM2 (L272Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610593	NM_015317.5(PUM2):c.1393G>A (p.Ala465Thr)	PUM2 (A239T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334377	NM_015317.5(PUM2):c.1217C>T (p.Ala406Val)	PUM2 (A180V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301039	NM_015317.5(PUM2):c.1198G>A (p.Gly400Ser)	PUM2 (G174S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476982	NM_015317.5(PUM2):c.1159C>T (p.Arg387Cys)	PUM2 (R161C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149788	NM_015317.5(PUM2):c.1154T>C (p.Val385Ala)	PUM2 (V385A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341720	NM_015317.5(PUM2):c.1099A>G (p.Asn367Asp)	PUM2 (N367D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593443	NM_015317.5(PUM2):c.1094C>T (p.Ala365Val)	PUM2 (A139V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311728	NM_015317.5(PUM2):c.1054G>T (p.Val352Leu)	PUM2 (V126L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311729	NM_015317.5(PUM2):c.1050G>C (p.Trp350Cys)	PUM2 (W350C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149787	NM_015317.5(PUM2):c.1042G>A (p.Val348Ile)	PUM2 (V122I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311724	NM_015317.5(PUM2):c.1039G>A (p.Gly347Ser)	PUM2 (G347S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311725	NM_015317.5(PUM2):c.887G>A (p.Gly296Asp)	PUM2 (G296D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610903	NM_015317.5(PUM2):c.830C>A (p.Thr277Asn)	PUM2 (T277N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149796	NM_015317.5(PUM2):c.757G>A (p.Val253Ile)	PUM2 (V197I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365659	NM_015317.5(PUM2):c.751G>A (p.Ala251Thr)	PUM2 (A25T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270334	NM_015317.5(PUM2):c.736A>G (p.Met246Val)	PUM2 (M190V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604332	NM_015317.5(PUM2):c.716A>G (p.Tyr239Cys)	PUM2 (Y183C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549001	NM_015317.5(PUM2):c.596G>A (p.Gly199Glu)	PUM2 (G199E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457435	NM_015317.5(PUM2):c.578A>G (p.Asn193Ser)	PUM2 (N193S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3149795	NM_015317.5(PUM2):c.524C>T (p.Thr175Ile)	PUM2 (T119I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496223	NM_015317.5(PUM2):c.500C>T (p.Ala167Val)	PUM2 (A111V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311726	NM_015317.5(PUM2):c.424C>A (p.Gln142Lys)	PUM2 (Q142K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607319	NM_015317.5(PUM2):c.229G>A (p.Val77Ile)	PUM2 (V77I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149790	NM_015317.5(PUM2):c.223A>G (p.Ser75Gly)	PUM2 (S75G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462139	NM_015317.5(PUM2):c.215A>G (p.His72Arg)	PUM2 (H16R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507489	NM_015317.5(PUM2):c.169A>G (p.Met57Val)	PUM2 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606306	NM_015317.5(PUM2):c.110G>A (p.Gly37Asp)	PUM2 (G37D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 44