ClinVar for Gene (Select 5116) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068508	NM_006031.6(PCNT):c.1164_1165del (p.Arg388fs)	PCNT (R270fs +1 more)	Microsatellite (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 3065676	NM_006031.6(PCNT):c.7585C>T (p.Arg2529Cys)	PCNT (R2411C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062424	GRCh37/hg19 21q22.3(chr21:47809383-47854022)x3	PCNT	Copy number gain	not specified	GUncertain significance
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061593	NM_006031.6(PCNT):c.9693T>C (p.Pro3231=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition	GLikely benign
Select item 3061468	NM_006031.6(PCNT):c.29G>C (p.Arg10Thr)	PCNT (R10T)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3061330	NM_006031.6(PCNT):c.7624_7631del (p.Leu2542fs)	PCNT (L2424fs +1 more)	Deletion (frameshift variant)	PCNT-related condition	GLikely pathogenic
Select item 3058453	NM_006031.6(PCNT):c.7064C>T (p.Ser2355Leu)	PCNT (S2237L +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3058450	NM_006031.6(PCNT):c.5377G>C (p.Glu1793Gln)	PCNT (E1675Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3058334	NM_006031.6(PCNT):c.5920G>T (p.Ala1974Ser)	PCNT (A1856S +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3057719	NM_006031.6(PCNT):c.9752C>G (p.Pro3251Arg)	PCNT (P3054R +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3054915	NM_006031.6(PCNT):c.8787T>G (p.His2929Gln)	PCNT (H2732Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3054867	NM_006031.6(PCNT):c.7503G>A (p.Leu2501=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition	GLikely benign
Select item 3054751	NM_006031.6(PCNT):c.7529G>A (p.Arg2510His)	PCNT (R2392H +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3054432	NM_006031.6(PCNT):c.3669T>G (p.Ser1223=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition	GLikely benign
Select item 3054361	NM_006031.6(PCNT):c.6150+11_6150+130del	PCNT	Deletion (splice donor variant)	PCNT-related condition	GLikely benign
Select item 3054125	NM_006031.6(PCNT):c.6034C>G (p.Pro2012Ala)	PCNT (P1894A +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3053914	NM_006031.6(PCNT):c.3109G>A (p.Glu1037Lys)	PCNT (E1037K +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3052303	NM_006031.6(PCNT):c.7871C>G (p.Ser2624Cys)	PCNT (S2506C +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3052117	NM_006031.6(PCNT):c.9940C>T (p.Gln3314Ter)	PCNT (Q3117* +1 more)	Single nucleotide variant (nonsense)	PCNT-related condition	GUncertain significance
Select item 3051565	NM_006031.6(PCNT):c.4948C>T (p.Arg1650Trp)	PCNT (R1532W +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3049913	NM_006031.6(PCNT):c.1367A>G (p.Tyr456Cys)	PCNT (Y338C +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3049395	NM_006031.6(PCNT):c.5829C>T (p.Cys1943=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition	GLikely benign
Select item 3047345	NM_006031.6(PCNT):c.1504G>A (p.Glu502Lys)	PCNT (E384K +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3047326	NM_006031.6(PCNT):c.5074G>C (p.Val1692Leu)	PCNT (V1574L +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3047156	NM_001414902.1(LOC128092249):c.143A>G (p.Lys48Arg)	LOC128092249, PCNT (K48R)	Single nucleotide variant (missense variant +2 more)	PCNT-related condition	GLikely benign
Select item 3046140	NM_006031.6(PCNT):c.444_445insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC (p.Val148_Ser149insGlyAspHisProProGluGlnHisGlyMetPheThrVal)	PCNT	Insertion (inframe insertion)	PCNT-related condition	GUncertain significance
Select item 3046018	NM_006031.6(PCNT):c.6150+11_6150+190del	PCNT	Deletion (splice donor variant)	PCNT-related condition	GLikely benign
Select item 3044202	NM_006031.6(PCNT):c.3007A>G (p.Lys1003Glu)	PCNT (K1003E +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3043754	NM_006031.6(PCNT):c.5848C>T (p.Arg1950Trp)	PCNT (R1832W +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3042562	NM_006031.6(PCNT):c.-6A>T	PCNT	Single nucleotide variant (5 prime UTR variant)	PCNT-related condition	GLikely benign
Select item 3041142	NM_006031.6(PCNT):c.5668G>A (p.Glu1890Lys)	PCNT (E1772K +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3040745	NM_006031.6(PCNT):c.689G>A (p.Arg230His)	PCNT (R112H +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3038644	NM_006031.6(PCNT):c.7682G>A (p.Arg2561His)	PCNT (R2443H +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3036421	NM_006031.6(PCNT):c.1942C>T (p.Pro648Ser)	PCNT (P530S +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3036344	NM_001414902.1(LOC128092249):c.86G>T (p.Arg29Leu)	LOC128092249, PCNT (R29L)	Single nucleotide variant (missense variant +1 more)	PCNT-related condition	GLikely benign
Select item 3035950	NM_006031.6(PCNT):c.4521C>T (p.Arg1507=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition	GLikely benign
Select item 3035901	NM_006031.6(PCNT):c.3801G>C (p.Val1267=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition	GLikely benign
Select item 3035129	NM_006031.6(PCNT):c.*8G>A	PCNT	Single nucleotide variant (3 prime UTR variant)	PCNT-related condition	GLikely benign
Select item 3035012	NM_006031.6(PCNT):c.7913+5G>A	PCNT	Single nucleotide variant (intron variant)	PCNT-related condition	GUncertain significance
Select item 3034715	NM_006031.6(PCNT):c.8752-24_8752-8del	PCNT	Deletion (intron variant)	PCNT-related condition	GLikely benign
Select item 3032968	NM_006031.6(PCNT):c.4358G>A (p.Cys1453Tyr)	PCNT (C1335Y +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3032837	NM_006031.6(PCNT):c.1364C>T (p.Ser455Leu)	PCNT (S337L +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3032708	NM_006031.6(PCNT):c.4072G>A (p.Glu1358Lys)	PCNT (E1240K +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3032458	NM_006031.6(PCNT):c.391G>C (p.Gly131Arg)	PCNT (G131R +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3032417	NM_006031.6(PCNT):c.7952C>T (p.Ala2651Val)	PCNT (A2533V +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3032397	NM_006031.6(PCNT):c.8809A>T (p.Thr2937Ser)	PCNT (T2740S +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3032393	NM_006031.6(PCNT):c.1679+4A>G	PCNT	Single nucleotide variant (intron variant)	PCNT-related condition	GUncertain significance
Select item 3032357	NM_006031.6(PCNT):c.7752G>A (p.Thr2584=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition	GLikely benign
Select item 3032054	NM_006031.6(PCNT):c.7873C>T (p.Arg2625Trp)	PCNT (R2507W +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3031993	NM_006031.6(PCNT):c.6278A>G (p.Asp2093Gly)	PCNT (D1975G +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3031000	NM_006031.6(PCNT):c.4155G>T (p.Glu1385Asp)	PCNT (E1267D +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3030368	NM_006031.6(PCNT):c.4167G>C (p.Leu1389=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition	GLikely benign
Select item 3029919	NM_006031.6(PCNT):c.6103C>T (p.Leu2035Phe)	PCNT (L1917F +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3029446	NM_006031.6(PCNT):c.228C>T (p.Asp76=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related condition	GLikely benign
Select item 3029416	NM_006031.6(PCNT):c.4463G>A (p.Arg1488Gln)	PCNT (R1370Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3029358	NM_006031.6(PCNT):c.7689G>C (p.Gln2563His)	PCNT (Q2445H +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 3027108	NM_006031.6(PCNT):c.7066G>C (p.Gly2356Arg)	PCNT (G2238R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025786	NM_006031.6(PCNT):c.3747G>A (p.Val1249=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024746	NM_006031.6(PCNT):c.615A>G (p.Ala205=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023935	NM_006031.6(PCNT):c.1033-19T>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023801	NM_006031.6(PCNT):c.9489C>T (p.Phe3163=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition +1 more	GLikely benign
Select item 3023337	NM_006031.6(PCNT):c.4839G>A (p.Ala1613=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023028	NM_006031.6(PCNT):c.6444C>T (p.Asp2148=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition +1 more	GLikely benign
Select item 3022259	NM_006031.6(PCNT):c.4764_4765del (p.Asn1590fs)	PCNT (N1472fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3022245	NM_006031.6(PCNT):c.721-17C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022048	NM_006031.6(PCNT):c.3822C>T (p.Ala1274=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021994	NM_006031.6(PCNT):c.4458C>T (p.Ala1486=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021765	NM_006031.6(PCNT):c.5331C>T (p.Cys1777=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021714	NM_006031.6(PCNT):c.6921+20C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021358	NM_006031.6(PCNT):c.9738C>G (p.Thr3246=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021270	NM_006031.6(PCNT):c.720+7C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020782	NM_006031.6(PCNT):c.4374G>A (p.Glu1458=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020620	NM_006031.6(PCNT):c.3612G>T (p.Pro1204=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020581	NM_006031.6(PCNT):c.3607+15A>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020410	NM_006031.6(PCNT):c.9701-2A>T	PCNT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3020317	NM_006031.6(PCNT):c.4257G>A (p.Ser1419=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020299	NM_006031.6(PCNT):c.9996G>A (p.Pro3332=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020298	NM_001414902.1(LOC128092249):c.131G>T (p.Arg44Leu)	LOC128092249, PCNT (R44L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3020255	NM_006031.6(PCNT):c.6921+13T>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019986	NM_006031.6(PCNT):c.7180-10C>G	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019659	NM_006031.6(PCNT):c.8301G>A (p.Leu2767=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019627	NM_006031.6(PCNT):c.5499A>G (p.Leu1833=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018427	NM_006031.6(PCNT):c.4963-9T>G	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018311	NM_006031.6(PCNT):c.5544G>A (p.Glu1848=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017885	NM_006031.6(PCNT):c.3735C>A (p.Ser1245Arg)	PCNT (S1127R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3017877	NM_006031.6(PCNT):c.1457-7G>A	PCNT	Single nucleotide variant (intron variant)	PCNT-related condition +1 more	GLikely benign
Select item 3017659	NM_006031.6(PCNT):c.1375C>T (p.Leu459=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017633	NM_006031.6(PCNT):c.2775C>T (p.Ala925=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017594	NM_006031.6(PCNT):c.7860C>T (p.Ser2620=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017247	NM_006031.6(PCNT):c.2565C>T (p.His855=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016671	NM_006031.6(PCNT):c.2544C>T (p.Asp848=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition +1 more	GLikely benign

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