"Ambry Genetics"[submitter] AND "CPZ"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2267673	NM_001014447.3(CPZ):c.11C>A (p.Pro4Gln)	CPZ (P4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269331	NM_001014447.3(CPZ):c.22C>A (p.Leu8Met)	CPZ (L8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466099	NM_001014447.3(CPZ):c.43G>A (p.Val15Ile)	CPZ (V15I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077017	NM_001014447.3(CPZ):c.68A>G (p.Glu23Gly)	CPZ (E23G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269333	NM_001014447.3(CPZ):c.81C>A (p.Asn27Lys)	CPZ (N27K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077026	NM_001014447.3(CPZ):c.97C>T (p.His33Tyr)	CPZ (H33Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356847	NM_001014447.3(CPZ):c.107C>T (p.Pro36Leu)	CPZ (P36L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379875	NM_001014447.3(CPZ):c.172C>A (p.His58Asn)	CPZ (H58N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487282	NM_001014447.3(CPZ):c.183C>A (p.Phe61Leu)	CPZ (F50L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405723	NM_001014447.3(CPZ):c.202C>T (p.Arg68Trp)	CPZ (R68W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269334	NM_001014447.3(CPZ):c.203G>A (p.Arg68Gln)	CPZ (R57Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077008	NM_001014447.3(CPZ):c.206C>T (p.Ser69Leu)	CPZ (S58L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269336	NM_001014447.3(CPZ):c.259C>A (p.Gln87Lys)	CPZ (Q87K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491919	NM_001014447.3(CPZ):c.288C>G (p.Asp96Glu)	CPZ (D96E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407301	NM_001014447.3(CPZ):c.317C>T (p.Ala106Val)	CPZ (A106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077010	NM_001014447.3(CPZ):c.344G>A (p.Arg115His)	CPZ (R104H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3077011	NM_001014447.3(CPZ):c.349C>A (p.Pro117Thr)	CPZ (P117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077012	NM_001014447.3(CPZ):c.379G>A (p.Glu127Lys)	CPZ (E116K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611270	NM_001014447.3(CPZ):c.412A>G (p.Met138Val)	CPZ (M138V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077013	NM_001014447.3(CPZ):c.427T>C (p.Phe143Leu)	CPZ (F6L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269339	NM_001014447.3(CPZ):c.477C>G (p.Asp159Glu)	CPZ (D22E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077014	NM_001014447.3(CPZ):c.514G>A (p.Glu172Lys)	CPZ (E172K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356848	NM_001014447.3(CPZ):c.551G>A (p.Arg184His)	CPZ (R173H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400009	NM_001014447.3(CPZ):c.571G>A (p.Ala191Thr)	CPZ (A180T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309131	NM_001014447.3(CPZ):c.580G>A (p.Val194Met)	CPZ (V183M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269332	NM_001014447.3(CPZ):c.584G>C (p.Arg195Pro)	CPZ (R184P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077015	NM_001014447.3(CPZ):c.584G>A (p.Arg195His)	CPZ (R58H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077016	NM_001014447.3(CPZ):c.618C>G (p.His206Gln)	CPZ (H69Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601427	NM_001014447.3(CPZ):c.643C>T (p.Arg215Cys)	CPZ (R204C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254849	NM_001014447.3(CPZ):c.652G>A (p.Asp218Asn)	CPZ (D207N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364957	NM_001014447.3(CPZ):c.718G>C (p.Glu240Gln)	CPZ (E229Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280233	NM_001014447.3(CPZ):c.718G>A (p.Glu240Lys)	CPZ (E103K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514178	NM_001014447.3(CPZ):c.746G>T (p.Gly249Val)	CPZ (G238V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324009	NM_001014447.3(CPZ):c.751G>A (p.Glu251Lys)	CPZ (E114K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077018	NM_001014447.3(CPZ):c.764G>A (p.Arg255Gln)	CPZ (R118Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077020	NM_001014447.3(CPZ):c.814G>T (p.Gly272Cys)	CPZ (G261C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346794	NM_001014447.3(CPZ):c.823C>T (p.Arg275Cys)	CPZ (R264C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077021	NM_001014447.3(CPZ):c.832C>T (p.Arg278Cys)	CPZ (R141C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542499	NM_001014447.3(CPZ):c.841A>T (p.Asn281Tyr)	CPZ (N281Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077022	NM_001014447.3(CPZ):c.851G>T (p.Arg284Leu)	CPZ (R284L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406606	NM_001014447.3(CPZ):c.851G>A (p.Arg284His)	CPZ (R147H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269337	NM_001014447.3(CPZ):c.855C>G (p.Ile285Met)	CPZ (I274M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077023	NM_001014447.3(CPZ):c.878C>T (p.Pro293Leu)	CPZ (P282L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077024	NM_001014447.3(CPZ):c.887A>G (p.Tyr296Cys)	CPZ (Y285C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269326	NM_001014447.3(CPZ):c.933C>G (p.Ser311Arg)	CPZ (S174R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077025	NM_001014447.3(CPZ):c.956T>C (p.Leu319Pro)	CPZ (L308P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077027	NM_001014447.3(CPZ):c.986C>T (p.Thr329Met)	CPZ (T192M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269329	NM_001014447.3(CPZ):c.1015C>T (p.Arg339Cys)	CPZ (R328C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468109	NM_001014447.3(CPZ):c.1062G>T (p.Trp354Cys)	CPZ (W354C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269338	NM_001014447.3(CPZ):c.1096A>G (p.Lys366Glu)	CPZ (K355E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076987	NM_001014447.3(CPZ):c.1099T>C (p.Trp367Arg)	CPZ (W230R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076988	NM_001014447.3(CPZ):c.1106A>G (p.Gln369Arg)	CPZ (Q232R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487870	NM_001014447.3(CPZ):c.1114C>T (p.Pro372Ser)	CPZ (P235S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076989	NM_001014447.3(CPZ):c.1117T>C (p.Phe373Leu)	CPZ (F362L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076990	NM_001014447.3(CPZ):c.1141G>C (p.Gly381Arg)	CPZ (G370R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610991	NM_001014447.3(CPZ):c.1147G>C (p.Asp383His)	CPZ (D246H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076991	NM_001014447.3(CPZ):c.1165C>G (p.Pro389Ala)	CPZ (P252A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076992	NM_001014447.3(CPZ):c.1171G>C (p.Asp391His)	CPZ (D254H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076993	NM_001014447.3(CPZ):c.1182G>T (p.Lys394Asn)	CPZ (K257N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359038	NM_001014447.3(CPZ):c.1199A>T (p.Lys400Met)	CPZ (K389M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076994	NM_001014447.3(CPZ):c.1210C>G (p.Pro404Ala)	CPZ (P267A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076995	NM_001014447.3(CPZ):c.1214C>A (p.Thr405Lys)	CPZ (T268K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537986	NM_001014447.3(CPZ):c.1219G>A (p.Asp407Asn)	CPZ (D396N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542593	NM_001014447.3(CPZ):c.1277T>G (p.Met426Arg)	CPZ (M426R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076996	NM_001014447.3(CPZ):c.1278G>A (p.Met426Ile)	CPZ (M289I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398684	NM_001014447.3(CPZ):c.1286C>T (p.Ser429Leu)	CPZ (S418L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076998	NM_001014447.3(CPZ):c.1295G>A (p.Arg432Lys)	CPZ (R432K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265529	NM_001014447.3(CPZ):c.1304G>T (p.Gly435Val)	CPZ (G435V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216234	NM_001014447.3(CPZ):c.1319G>C (p.Arg440Thr)	CPZ (R303T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269330	NM_001014447.3(CPZ):c.1347G>C (p.Trp449Cys)	CPZ (W312C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076999	NM_001014447.3(CPZ):c.1358C>T (p.Thr453Met)	CPZ (T316M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269327	NM_001014447.3(CPZ):c.1432T>C (p.Phe478Leu)	CPZ (F341L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240899	NM_001014447.3(CPZ):c.1438C>A (p.Pro480Thr)	CPZ (P469T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329457	NM_001014447.3(CPZ):c.1439C>A (p.Pro480His)	CPZ (P343H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313930	NM_001014447.3(CPZ):c.1520A>G (p.Lys507Arg)	CPZ (K370R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348458	NM_001014447.3(CPZ):c.1543G>A (p.Gly515Ser)	CPZ (G504S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363234	NM_001014447.3(CPZ):c.1544G>A (p.Gly515Asp)	CPZ (G504D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077000	NM_001014447.3(CPZ):c.1565G>A (p.Arg522Gln)	CPZ (R385Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215280	NM_001014447.3(CPZ):c.1585C>T (p.Arg529Cys)	CPZ (R518C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368156	NM_001014447.3(CPZ):c.1586G>A (p.Arg529His)	CPZ (R529H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077001	NM_001014447.3(CPZ):c.1633C>G (p.Pro545Ala)	CPZ (P545A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077002	NM_001014447.3(CPZ):c.1663G>C (p.Ala555Pro)	CPZ (A418P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474583	NM_001014447.3(CPZ):c.1670G>C (p.Gly557Ala)	CPZ (G546A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311773	NM_001014447.3(CPZ):c.1675G>A (p.Ala559Thr)	CPZ (A422T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366465	NM_001014447.3(CPZ):c.1679A>G (p.Lys560Arg)	CPZ (K560R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3269328	NM_001014447.3(CPZ):c.1726C>T (p.Arg576Cys)	CPZ (R565C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207556	NM_001014447.3(CPZ):c.1738A>G (p.Ile580Val)	CPZ (I443V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077003	NM_001014447.3(CPZ):c.1753G>C (p.Gly585Arg)	CPZ (G448R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269340	NM_001014447.3(CPZ):c.1754G>T (p.Gly585Val)	CPZ (G574V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077004	NM_001014447.3(CPZ):c.1760G>C (p.Gly587Ala)	CPZ (G576A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077005	NM_001014447.3(CPZ):c.1767G>T (p.Lys589Asn)	CPZ (K452N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321215	NM_001014447.3(CPZ):c.1767G>C (p.Lys589Asn)	CPZ (K589N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205785	NM_001014447.3(CPZ):c.1804G>A (p.Asp602Asn)	CPZ (D602N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396578	NM_001014447.3(CPZ):c.1808C>T (p.Pro603Leu)	CPZ (P592L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231095	NM_001014447.3(CPZ):c.1813G>C (p.Gly605Arg)	CPZ (G605R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468268	NM_001014447.3(CPZ):c.1834G>C (p.Glu612Gln)	CPZ (E601Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593406	NM_001014447.3(CPZ):c.1843G>A (p.Glu615Lys)	CPZ (E604K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457430	NM_001014447.3(CPZ):c.1853C>T (p.Pro618Leu)	CPZ (P607L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077006	NM_001014447.3(CPZ):c.1858C>G (p.Arg620Gly)	CPZ (R483G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372681	NM_001014447.3(CPZ):c.1858C>T (p.Arg620Trp)	CPZ (R483W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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