ClinVar for Gene (Select 23215) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310582	NM_001387844.1(PRRC2C):c.6571G>A (p.Asp2191Asn)	PRRC2C (D2189N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310581	NM_001387844.1(PRRC2C):c.6782A>G (p.Asn2261Ser)	PRRC2C (N2259S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310580	NM_001387844.1(PRRC2C):c.8048C>T (p.Thr2683Ile)	PRRC2C (T2681I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310579	NM_001387844.1(PRRC2C):c.2416C>T (p.Arg806Cys)	PRRC2C (R804C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310578	NM_001387844.1(PRRC2C):c.6241A>G (p.Lys2081Glu)	PRRC2C (K2079E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310577	NM_001387844.1(PRRC2C):c.4922C>A (p.Pro1641Gln)	PRRC2C (P1641Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310576	NM_001387844.1(PRRC2C):c.7898A>G (p.Gln2633Arg)	PRRC2C (Q2631R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310575	NM_001387844.1(PRRC2C):c.6014A>G (p.Asn2005Ser)	PRRC2C (N2003S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310573	NM_001387844.1(PRRC2C):c.587A>T (p.Asp196Val)	PRRC2C (D196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310572	NM_001387844.1(PRRC2C):c.4216A>C (p.Lys1406Gln)	PRRC2C (K1404Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310571	NM_001387844.1(PRRC2C):c.5320G>T (p.Ala1774Ser)	PRRC2C (A1772S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310570	NM_001387844.1(PRRC2C):c.6196A>G (p.Asn2066Asp)	PRRC2C (N2066D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310569	NM_001387844.1(PRRC2C):c.2819A>G (p.Gln940Arg)	PRRC2C (Q938R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310568	NM_001387844.1(PRRC2C):c.2797C>A (p.His933Asn)	PRRC2C (H931N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310567	NM_001387844.1(PRRC2C):c.5765C>T (p.Ser1922Leu)	PRRC2C (S1922L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310566	NM_001387844.1(PRRC2C):c.1885G>A (p.Val629Ile)	PRRC2C (V627I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310565	NM_001387844.1(PRRC2C):c.718G>A (p.Ala240Thr)	PRRC2C (A238T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310564	NM_001387844.1(PRRC2C):c.1972C>T (p.Arg658Trp)	PRRC2C (R656W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310562	NM_001387844.1(PRRC2C):c.5165G>A (p.Ser1722Asn)	PRRC2C (S1720N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310561	NM_001387844.1(PRRC2C):c.4849G>A (p.Gly1617Ser)	PRRC2C (G1617S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242279	GRCh37/hg19 1q24.2-25.1(chr1:170777501-173113232)x1	C1orf105, DNM3 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 3219715	NM_001387844.1(PRRC2C):c.935A>G (p.Asn312Ser)	PRRC2C (N310S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219714	NM_001387844.1(PRRC2C):c.867G>C (p.Trp289Cys)	PRRC2C (W289C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219713	NM_001387844.1(PRRC2C):c.8656A>G (p.Ile2886Val)	PRRC2C (I2805V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219712	NM_001387844.1(PRRC2C):c.8449G>A (p.Ala2817Thr)	PRRC2C (A2817T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219711	NM_001387844.1(PRRC2C):c.8011A>G (p.Ile2671Val)	PRRC2C (I2669V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219710	NM_001387844.1(PRRC2C):c.7930G>T (p.Ala2644Ser)	PRRC2C (A2642S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219709	NM_001387844.1(PRRC2C):c.77A>T (p.Tyr26Phe)	PRRC2C (Y26F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219708	NM_001387844.1(PRRC2C):c.7217G>A (p.Arg2406Gln)	PRRC2C (R2404Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219707	NM_001387844.1(PRRC2C):c.6931G>A (p.Val2311Ile)	PRRC2C (V2311I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219706	NM_001387844.1(PRRC2C):c.6904T>G (p.Ser2302Ala)	PRRC2C (S2300A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219705	NM_001387844.1(PRRC2C):c.6841A>G (p.Thr2281Ala)	PRRC2C (T2279A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219703	NM_001387844.1(PRRC2C):c.6699A>C (p.Gln2233His)	PRRC2C (Q2231H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219702	NM_001387844.1(PRRC2C):c.6670C>G (p.Leu2224Val)	PRRC2C (L2224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219701	NM_001387844.1(PRRC2C):c.6613A>G (p.Thr2205Ala)	PRRC2C (T2203A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219700	NM_001387844.1(PRRC2C):c.6047C>T (p.Pro2016Leu)	PRRC2C (P2016L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219699	NM_001387844.1(PRRC2C):c.5924C>A (p.Ala1975Asp)	PRRC2C (A1973D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219698	NM_001387844.1(PRRC2C):c.4534G>C (p.Glu1512Gln)	PRRC2C (E1512Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219697	NM_001387844.1(PRRC2C):c.4291C>G (p.Pro1431Ala)	PRRC2C (P1429A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219696	NM_001387844.1(PRRC2C):c.4263G>C (p.Arg1421Ser)	PRRC2C (R1421S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219695	NM_001387844.1(PRRC2C):c.4055G>A (p.Arg1352His)	PRRC2C (R1350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219694	NM_001387844.1(PRRC2C):c.3739C>T (p.Arg1247Trp)	PRRC2C (R1247W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219693	NM_001387844.1(PRRC2C):c.3520A>G (p.Lys1174Glu)	PRRC2C (K1174E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219692	NM_001387844.1(PRRC2C):c.3457C>G (p.Pro1153Ala)	PRRC2C (P1151A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219691	NM_001387844.1(PRRC2C):c.3400G>A (p.Val1134Ile)	PRRC2C (V1132I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219690	NM_001387844.1(PRRC2C):c.3215C>T (p.Pro1072Leu)	PRRC2C (P1070L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219689	NM_001387844.1(PRRC2C):c.3184C>T (p.Pro1062Ser)	PRRC2C (P1062S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219688	NM_001387844.1(PRRC2C):c.3137A>G (p.Glu1046Gly)	PRRC2C (E1046G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219687	NM_001387844.1(PRRC2C):c.2980C>T (p.Arg994Cys)	PRRC2C (R992C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219686	NM_001387844.1(PRRC2C):c.2606G>A (p.Ser869Asn)	PRRC2C (S867N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219685	NM_001387844.1(PRRC2C):c.2597G>C (p.Arg866Thr)	PRRC2C (R864T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219684	NM_001387844.1(PRRC2C):c.2395G>A (p.Ala799Thr)	PRRC2C (A797T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219680	NM_001387844.1(PRRC2C):c.1561C>T (p.Leu521Phe)	PRRC2C (L521F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219679	NM_001387844.1(PRRC2C):c.1436G>C (p.Arg479Thr)	PRRC2C (R477T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219678	NM_001387844.1(PRRC2C):c.1385A>G (p.Glu462Gly)	PRRC2C (E460G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219676	NM_001387844.1(PRRC2C):c.1067G>A (p.Gly356Asp)	PRRC2C (G354D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2639556	NM_001387844.1(PRRC2C):c.5986A>G (p.Asn1996Asp)	PRRC2C (N1994D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639555	NM_001387844.1(PRRC2C):c.3702C>T (p.Pro1234=)	PRRC2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639554	NM_001387844.1(PRRC2C):c.2670T>C (p.Asp890=)	PRRC2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639553	NM_001387844.1(PRRC2C):c.2117C>A (p.Pro706Gln)	PRRC2C (P704Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639552	NM_001387844.1(PRRC2C):c.1452G>A (p.Ala484=)	PRRC2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624364	NM_001387844.1(PRRC2C):c.1544G>A (p.Arg515Gln)	PRRC2C (R515Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607791	NM_001387844.1(PRRC2C):c.4901C>G (p.Pro1634Arg)	PRRC2C (P1632R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600610	NM_001387844.1(PRRC2C):c.1841A>G (p.Glu614Gly)	PRRC2C (E612G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596709	NM_001387844.1(PRRC2C):c.7889G>A (p.Arg2630His)	PRRC2C (R2630H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569305	NM_001387844.1(PRRC2C):c.8626A>G (p.Ile2876Val)	PRRC2C (I2795V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558502	NM_001387844.1(PRRC2C):c.3164C>T (p.Thr1055Met)	PRRC2C (T1055M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554309	NM_001387844.1(PRRC2C):c.5314C>T (p.Leu1772Phe)	PRRC2C (L1772F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552575	NM_001387844.1(PRRC2C):c.6419G>A (p.Gly2140Glu)	PRRC2C (G2138E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542020	NM_001387844.1(PRRC2C):c.3287C>G (p.Thr1096Ser)	PRRC2C (T1094S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537756	NM_001387844.1(PRRC2C):c.1291C>A (p.Pro431Thr)	PRRC2C (P429T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537466	NM_001387844.1(PRRC2C):c.3757T>C (p.Phe1253Leu)	PRRC2C (F1253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533066	NM_001387844.1(PRRC2C):c.2850A>C (p.Lys950Asn)	PRRC2C (K948N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529088	NM_001387844.1(PRRC2C):c.6484G>C (p.Ala2162Pro)	PRRC2C (A2160P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523057	NM_001387844.1(PRRC2C):c.2860A>G (p.Arg954Gly)	PRRC2C (R952G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519189	NM_001387844.1(PRRC2C):c.3740G>A (p.Arg1247Gln)	PRRC2C (R1247Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517825	NM_001387844.1(PRRC2C):c.2767C>T (p.Arg923Trp)	PRRC2C (R923W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516085	NM_001387844.1(PRRC2C):c.2167A>G (p.Met723Val)	PRRC2C (M723V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509705	NM_001387844.1(PRRC2C):c.4921C>A (p.Pro1641Thr)	PRRC2C (P1641T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505193	NM_001387844.1(PRRC2C):c.2447dup (p.His816fs)	PRRC2C (H814fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2496277	NM_001387844.1(PRRC2C):c.8117G>A (p.Ser2706Asn)	PRRC2C (S2704N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493236	NM_001387844.1(PRRC2C):c.3935A>G (p.His1312Arg)	PRRC2C (H1310R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490494	NM_001387844.1(PRRC2C):c.3914C>G (p.Ser1305Cys)	PRRC2C (S1305C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489161	NM_001387844.1(PRRC2C):c.1237A>G (p.Lys413Glu)	PRRC2C (K411E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488867	NM_001387844.1(PRRC2C):c.2684C>T (p.Ser895Phe)	PRRC2C (S895F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483466	NM_001387844.1(PRRC2C):c.4016G>A (p.Gly1339Glu)	PRRC2C (G1339E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483270	NM_001387844.1(PRRC2C):c.3635G>T (p.Gly1212Val)	PRRC2C (G1210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477142	NM_001387844.1(PRRC2C):c.7844C>T (p.Pro2615Leu)	PRRC2C (P2615L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476032	NM_001387844.1(PRRC2C):c.3868A>G (p.Lys1290Glu)	PRRC2C (K1290E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473051	NM_001387844.1(PRRC2C):c.3461G>A (p.Arg1154Gln)	PRRC2C (R1152Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470156	NM_001387844.1(PRRC2C):c.6803A>C (p.Lys2268Thr)	PRRC2C (K2266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468453	NM_001387844.1(PRRC2C):c.2738G>A (p.Arg913Gln)	PRRC2C (R911Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463313	NM_001387844.1(PRRC2C):c.7735A>G (p.Ser2579Gly)	PRRC2C (S2577G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461645	NM_001387844.1(PRRC2C):c.7736G>A (p.Ser2579Asn)	PRRC2C (S2577N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459427	NM_001387844.1(PRRC2C):c.7525G>A (p.Gly2509Ser)	PRRC2C (G2507S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458731	NM_001387844.1(PRRC2C):c.8551C>T (p.Pro2851Ser)	PRRC2C (P2851S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408767	NM_001387844.1(PRRC2C):c.6284C>T (p.Ala2095Val)	PRRC2C (A2093V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405503	NM_001387844.1(PRRC2C):c.215A>G (p.Asn72Ser)	PRRC2C (N70S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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