ClinVar for Gene (Select 5116) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358843	NM_006031.6(PCNT):c.9589C>T (p.Arg3197Cys)	PCNT (R3000C +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358736	NM_006031.6(PCNT):c.2124T>G (p.His708Gln)	PCNT (H590Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358714	NM_006031.6(PCNT):c.8581C>T (p.Leu2861=)	PCNT	Single nucleotide variant (synonymous variant +1 more)	PCNT-related disorder	GLikely benign
Select item 3358687	NM_006031.6(PCNT):c.935G>A (p.Arg312Gln)	PCNT (R194Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358686	NM_006031.6(PCNT):c.7813G>A (p.Val2605Ile)	PCNT (V2487I +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358591	NM_006031.6(PCNT):c.3145G>A (p.Glu1049Lys)	PCNT (E1049K +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358554	NM_006031.6(PCNT):c.5887G>A (p.Gly1963Arg)	PCNT (G1845R +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358518	NM_006031.6(PCNT):c.6889G>T (p.Ala2297Ser)	PCNT (A2179S +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358478	NM_006031.6(PCNT):c.581A>C (p.Gln194Pro)	PCNT (Q194P +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358425	NM_006031.6(PCNT):c.4115T>C (p.Leu1372Pro)	PCNT (L1254P +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358375	NM_006031.6(PCNT):c.7631C>T (p.Thr2544Met)	PCNT (T2426M +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358356	NM_006031.6(PCNT):c.2357T>G (p.Ile786Arg)	PCNT (I668R +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358290	NM_006031.6(PCNT):c.8294G>A (p.Arg2765Gln)	PCNT (R2647Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358245	NM_006031.6(PCNT):c.7166C>T (p.Pro2389Leu)	PCNT (P2271L +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358215	NM_006031.6(PCNT):c.539A>G (p.Glu180Gly)	PCNT (E180G +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358127	NM_006031.6(PCNT):c.2164A>G (p.Asn722Asp)	PCNT (N604D +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358093	NM_006031.6(PCNT):c.5254G>A (p.Glu1752Lys)	PCNT (E1634K +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3358059	NM_006031.6(PCNT):c.2002G>T (p.Ala668Ser)	PCNT (A550S +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357880	NM_006031.6(PCNT):c.834G>A (p.Thr278=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3357860	NM_006031.6(PCNT):c.8565A>G (p.Arg2855=)	PCNT	Single nucleotide variant (synonymous variant +1 more)	PCNT-related disorder	GLikely benign
Select item 3357837	NM_006031.6(PCNT):c.3732G>T (p.Met1244Ile)	PCNT (M1126I +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357804	NM_006031.6(PCNT):c.3799G>A (p.Val1267Met)	PCNT (V1149M +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357782	NM_006031.6(PCNT):c.7751C>T (p.Thr2584Met)	PCNT (T2466M +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357735	NM_006031.6(PCNT):c.2296A>G (p.Lys766Glu)	PCNT (K648E +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357730	NM_006031.6(PCNT):c.209G>T (p.Cys70Phe)	PCNT (C70F)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 3357684	NM_006031.6(PCNT):c.8974_8982dup (p.Ser2994_Gln2995insPheThrSer)	PCNT	Duplication (inframe_insertion)	PCNT-related disorder	GUncertain significance
Select item 3357647	NM_006031.6(PCNT):c.795A>G (p.Thr265=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3357628	NM_006031.6(PCNT):c.5941G>A (p.Asp1981Asn)	PCNT (D1863N +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357627	NM_006031.6(PCNT):c.238G>A (p.Asp80Asn)	PCNT (D80N)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 3357568	NM_006031.6(PCNT):c.940A>G (p.Lys314Glu)	PCNT (K196E +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357426	NM_006031.6(PCNT):c.3446A>G (p.Asn1149Ser)	PCNT (N1031S +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357381	NM_006031.6(PCNT):c.6602G>A (p.Arg2201His)	PCNT (R2083H +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357352	NM_006031.6(PCNT):c.9034G>A (p.Val3012Met)	PCNT (V2815M +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357340	NM_006031.6(PCNT):c.6774A>G (p.Thr2258=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3357266	NM_006031.6(PCNT):c.6299T>C (p.Met2100Thr)	PCNT (M1982T +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357212	NM_006031.6(PCNT):c.710A>G (p.His237Arg)	PCNT (H119R +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357078	NM_006031.6(PCNT):c.5351G>A (p.Arg1784His)	PCNT (R1666H +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357069	NM_006031.6(PCNT):c.8859C>G (p.His2953Gln)	PCNT (H2756Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3357065	NM_006031.6(PCNT):c.95C>T (p.Ser32Leu)	LOC128092249, PCNT (R44C +1 more)	Single nucleotide variant (missense variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 3357007	NM_006031.6(PCNT):c.180_198del (p.Asp60fs)	PCNT (D60fs)	Deletion (5 prime UTR variant +1 more)	PCNT-related disorder	GLikely pathogenic
Select item 3356895	NM_006031.6(PCNT):c.5132G>A (p.Ser1711Asn)	PCNT (S1593N +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356889	NM_006031.6(PCNT):c.4140G>C (p.Ala1380=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3356866	NM_006031.6(PCNT):c.1721G>A (p.Arg574Lys)	PCNT (R456K +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356841	NM_006031.6(PCNT):c.5150T>C (p.Leu1717Pro)	PCNT (L1599P +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356827	NM_006031.6(PCNT):c.781C>G (p.Gln261Glu)	PCNT (Q143E +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356785	NM_006031.6(PCNT):c.1768C>T (p.Leu590=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3356736	NM_006031.6(PCNT):c.4794T>C (p.Asp1598=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3356686	NM_006031.6(PCNT):c.3841-6T>A	PCNT	Single nucleotide variant (intron variant)	PCNT-related disorder	GLikely benign
Select item 3356665	NM_006031.6(PCNT):c.9260G>A (p.Gly3087Asp)	PCNT (G2890D +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356581	NM_006031.6(PCNT):c.5725C>T (p.Pro1909Ser)	PCNT (P1791S +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356557	NM_006031.6(PCNT):c.7800G>C (p.Ala2600=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3356554	NM_006031.6(PCNT):c.4945C>G (p.Leu1649Val)	PCNT (L1531V +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356548	NM_006031.6(PCNT):c.8258G>T (p.Arg2753Leu)	PCNT (R2635L +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356511	NM_006031.6(PCNT):c.7602G>A (p.Gln2534=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3356481	NM_006031.6(PCNT):c.3166-4A>G	PCNT	Single nucleotide variant (intron variant)	PCNT-related disorder	GLikely benign
Select item 3356391	NM_006031.6(PCNT):c.977-7C>G	PCNT	Single nucleotide variant (intron variant)	PCNT-related disorder	GLikely benign
Select item 3356270	NM_006031.6(PCNT):c.6111G>T (p.Val2037=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3356263	NM_006031.6(PCNT):c.5994+10C>T	PCNT	Single nucleotide variant (intron variant)	PCNT-related disorder	GLikely benign
Select item 3356261	NM_006031.6(PCNT):c.9273C>G (p.Ser3091Arg)	PCNT (S2894R +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356192	NM_006031.6(PCNT):c.3136G>A (p.Val1046Met)	PCNT (V1046M +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356170	NM_006031.6(PCNT):c.8259C>T (p.Arg2753=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3356143	NM_006031.6(PCNT):c.1901A>G (p.Glu634Gly)	PCNT (E516G +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356048	NM_006031.6(PCNT):c.3308A>T (p.Gln1103Leu)	PCNT (Q1103L +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356024	NM_006031.6(PCNT):c.2624G>A (p.Arg875His)	PCNT (R757H +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3356007	NM_006031.6(PCNT):c.2602C>A (p.Arg868=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3356005	NM_006031.6(PCNT):c.2516G>A (p.Cys839Tyr)	PCNT (C721Y +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355973	NM_006031.6(PCNT):c.1659T>A (p.Leu553=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3355961	NM_006031.6(PCNT):c.5463G>A (p.Gln1821=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3355949	NM_006031.6(PCNT):c.9273+5G>T	PCNT	Single nucleotide variant (intron variant)	PCNT-related disorder	GLikely benign
Select item 3355938	NM_006031.6(PCNT):c.4468_4479dup (p.Glu1493_Glu1494insHisGluArgGlu)	PCNT	Duplication (inframe_insertion)	PCNT-related disorder	GUncertain significance
Select item 3355912	NM_006031.6(PCNT):c.5546T>G (p.Val1849Gly)	PCNT (V1731G +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355821	NM_006031.6(PCNT):c.2053C>A (p.Gln685Lys)	PCNT (Q567K +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355820	NM_006031.6(PCNT):c.8338G>C (p.Val2780Leu)	PCNT (V2662L +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355797	NM_006031.6(PCNT):c.779C>T (p.Ala260Val)	PCNT (A142V +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355734	NM_006031.6(PCNT):c.1748C>G (p.Pro583Arg)	PCNT (P465R +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355685	NM_006031.6(PCNT):c.6869A>G (p.Gln2290Arg)	PCNT (Q2172R +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355684	NM_006031.6(PCNT):c.8506G>A (p.Glu2836Lys)	PCNT (E2718K +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355628	NM_006031.6(PCNT):c.9107T>A (p.Met3036Lys)	PCNT (M2839K +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355599	NM_006031.6(PCNT):c.7695A>G (p.Glu2565=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3355501	NM_006031.6(PCNT):c.1906C>T (p.Arg636Cys)	PCNT (R518C +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355443	NM_006031.6(PCNT):c.1463A>T (p.His488Leu)	PCNT (H370L +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355298	NM_006031.6(PCNT):c.4696C>T (p.Arg1566Cys)	PCNT (R1448C +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355266	NM_006031.6(PCNT):c.6511C>G (p.Pro2171Ala)	PCNT (P2053A +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3355055	NM_006031.6(PCNT):c.5994+6del	PCNT	Deletion (intron variant)	PCNT-related disorder	GLikely benign
Select item 3355048	NM_006031.6(PCNT):c.1528del (p.Thr510fs)	PCNT (T392fs +1 more)	Deletion (frameshift variant)	PCNT-related disorder	GLikely pathogenic
Select item 3354968	NM_006031.6(PCNT):c.1937-8C>A	PCNT	Single nucleotide variant (intron variant)	PCNT-related disorder	GLikely benign
Select item 3354967	NM_006031.6(PCNT):c.1520G>A (p.Arg507Gln)	PCNT (R389Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3354866	NM_006031.6(PCNT):c.7057C>A (p.Pro2353Thr)	PCNT (P2235T +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3354855	NM_006031.6(PCNT):c.2170A>G (p.Ile724Val)	PCNT (I606V +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3354705	NM_006031.6(PCNT):c.3091C>T (p.Arg1031Trp)	PCNT (R1031W +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3354654	NM_006031.6(PCNT):c.8040G>A (p.Glu2680=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GLikely benign
Select item 3354647	NM_006031.6(PCNT):c.9713G>A (p.Arg3238Gln)	PCNT (R3041Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3354618	NM_006031.6(PCNT):c.8663G>A (p.Arg2888His)	PCNT (R2888H)	Single nucleotide variant (missense variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 3354591	NM_006031.6(PCNT):c.3731T>C (p.Met1244Thr)	PCNT (M1126T +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3354564	NM_006031.6(PCNT):c.7495-4C>T	PCNT	Single nucleotide variant (intron variant)	PCNT-related disorder	GLikely benign
Select item 3354560	NM_006031.6(PCNT):c.7592C>T (p.Thr2531Met)	PCNT (T2413M +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3354559	NM_006031.6(PCNT):c.2381C>G (p.Ala794Gly)	PCNT (A676G +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3354556	NM_006031.6(PCNT):c.8643G>A (p.Arg2881=)	PCNT	Single nucleotide variant (synonymous variant +1 more)	PCNT-related disorder	GLikely benign
Select item 3354542	NM_006031.6(PCNT):c.574C>A (p.Pro192Thr)	PCNT (P192T +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 3354535	NM_006031.6(PCNT):c.9746C>A (p.Ser3249Tyr)	PCNT (S3052Y +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance

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