PRR14L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 3062346	GRCh38/hg38 22q12.2-12.3(chr22:31684443-31987722)	DEPDC5, LINC02558 +14 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3219353	NM_173566.3(PRR14L):c.6319G>C (p.Val2107Leu)	PRR14L (V2107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777685	NM_173566.3(PRR14L):c.6285C>T (p.Val2095=)	PRR14L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3219352	NM_173566.3(PRR14L):c.6086T>C (p.Met2029Thr)	PRR14L (M2029T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557207	NM_173566.3(PRR14L):c.5950G>A (p.Val1984Met)	PRR14L (V1984M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617568	NM_173566.3(PRR14L):c.5942T>G (p.Leu1981Arg)	PRR14L (L1981R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293354	NM_173566.3(PRR14L):c.5938G>A (p.Glu1980Lys)	PRR14L (E1980K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219350	NM_173566.3(PRR14L):c.5926C>T (p.Arg1976Cys)	PRR14L (R1976C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249955	NM_173566.3(PRR14L):c.5923G>A (p.Val1975Ile)	PRR14L (V1975I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206098	NM_173566.3(PRR14L):c.5852T>G (p.Leu1951Trp)	PRR14L (L1951W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353344	NM_173566.3(PRR14L):c.5791A>G (p.Met1931Val)	PRR14L (M1931V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588840	NM_173566.3(PRR14L):c.5764A>G (p.Met1922Val)	PRR14L (M1922V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368820	NM_173566.3(PRR14L):c.5735C>A (p.Pro1912Gln)	PRR14L (P1912Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406710	NM_173566.3(PRR14L):c.5728C>T (p.Arg1910Trp)	PRR14L (R1910W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211290	NM_173566.3(PRR14L):c.5606T>C (p.Ile1869Thr)	PRR14L (I1869T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352217	NM_173566.3(PRR14L):c.5591G>A (p.Arg1864Gln)	PRR14L (R1864Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525901	NM_173566.3(PRR14L):c.5590C>T (p.Arg1864Trp)	PRR14L (R1864W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205861	NM_173566.3(PRR14L):c.5539A>G (p.Thr1847Ala)	PRR14L (T1847A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312224	NM_173566.3(PRR14L):c.5528G>A (p.Ser1843Asn)	PRR14L (S1843N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777686	NM_173566.3(PRR14L):c.5480G>A (p.Cys1827Tyr)	PRR14L (C1827Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2374362	NM_173566.3(PRR14L):c.5311G>A (p.Gly1771Ser)	PRR14L (G1771S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478931	NM_173566.3(PRR14L):c.5246T>C (p.Leu1749Ser)	PRR14L (L1749S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292491	NM_173566.3(PRR14L):c.5117A>G (p.Lys1706Arg)	PRR14L (K1706R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354039	NM_173566.3(PRR14L):c.5086A>G (p.Ile1696Val)	PRR14L (I1696V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618654	NM_173566.3(PRR14L):c.5060C>A (p.Pro1687His)	PRR14L (P1687H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777687	NM_173566.3(PRR14L):c.4987T>C (p.Phe1663Leu)	PRR14L (F1663L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2485951	NM_173566.3(PRR14L):c.4985G>A (p.Gly1662Glu)	PRR14L (G1662E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409041	NM_173566.3(PRR14L):c.4969A>G (p.Lys1657Glu)	PRR14L (K1657E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219349	NM_173566.3(PRR14L):c.4955A>G (p.Lys1652Arg)	PRR14L (K1652R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285192	NM_173566.3(PRR14L):c.4910A>C (p.Tyr1637Ser)	PRR14L (Y1637S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278395	NM_173566.3(PRR14L):c.4908A>C (p.Arg1636Ser)	PRR14L (R1636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219348	NM_173566.3(PRR14L):c.4904T>G (p.Leu1635Arg)	PRR14L (L1635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291444	NM_173566.3(PRR14L):c.4901A>C (p.Lys1634Thr)	PRR14L (K1634T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219347	NM_173566.3(PRR14L):c.4874A>T (p.Lys1625Ile)	PRR14L (K1625I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270880	NM_173566.3(PRR14L):c.4840G>A (p.Ala1614Thr)	PRR14L (A1614T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348485	NM_173566.3(PRR14L):c.4642G>A (p.Ala1548Thr)	PRR14L (A1548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530793	NM_173566.3(PRR14L):c.4510G>T (p.Asp1504Tyr)	PRR14L (D1504Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219345	NM_173566.3(PRR14L):c.4468G>A (p.Gly1490Ser)	PRR14L (G1490S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542964	NM_173566.3(PRR14L):c.4463T>G (p.Leu1488Arg)	PRR14L (L1488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299898	NM_173566.3(PRR14L):c.4448G>T (p.Cys1483Phe)	PRR14L (C1483F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227842	NM_173566.3(PRR14L):c.4328T>C (p.Met1443Thr)	PRR14L (M1443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622067	NM_173566.3(PRR14L):c.4297C>G (p.Gln1433Glu)	PRR14L (Q1433E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608358	NM_173566.3(PRR14L):c.4272G>C (p.Leu1424Phe)	PRR14L (L1424F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400809	NM_173566.3(PRR14L):c.4271T>C (p.Leu1424Ser)	PRR14L (L1424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478447	NM_173566.3(PRR14L):c.4216A>G (p.Ile1406Val)	PRR14L (I1406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290371	NM_173566.3(PRR14L):c.4174C>T (p.Pro1392Ser)	PRR14L (P1392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290370	NM_173566.3(PRR14L):c.4173C>A (p.Ser1391Arg)	PRR14L (S1391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603926	NM_173566.3(PRR14L):c.4153C>T (p.His1385Tyr)	PRR14L (H1385Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465788	NM_173566.3(PRR14L):c.4099G>A (p.Asp1367Asn)	PRR14L (D1367N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282523	NM_173566.3(PRR14L):c.4094A>T (p.Asp1365Val)	PRR14L (D1365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219344	NM_173566.3(PRR14L):c.4058A>G (p.Glu1353Gly)	PRR14L (E1353G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381345	NM_173566.3(PRR14L):c.4037T>C (p.Leu1346Pro)	PRR14L (L1346P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336966	NM_173566.3(PRR14L):c.4034G>A (p.Arg1345Gln)	PRR14L (R1345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219343	NM_173566.3(PRR14L):c.3937C>G (p.His1313Asp)	PRR14L (H1313D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392118	NM_173566.3(PRR14L):c.3930A>T (p.Lys1310Asn)	PRR14L (K1310N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777688	NM_173566.3(PRR14L):c.3898G>A (p.Val1300Ile)	PRR14L (V1300I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2621781	NM_173566.3(PRR14L):c.3873G>T (p.Trp1291Cys)	PRR14L (W1291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219342	NM_173566.3(PRR14L):c.3635G>A (p.Ser1212Asn)	PRR14L (S1212N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496363	NM_173566.3(PRR14L):c.3582A>C (p.Gln1194His)	PRR14L (Q1194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730634	NM_173566.3(PRR14L):c.3498A>G (p.Lys1166=)	PRR14L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330599	NM_173566.3(PRR14L):c.3431A>G (p.Glu1144Gly)	PRR14L (E1144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219341	NM_173566.3(PRR14L):c.3409T>A (p.Cys1137Ser)	PRR14L (C1137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311767	NM_173566.3(PRR14L):c.3406G>A (p.Val1136Ile)	PRR14L (V505I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219340	NM_173566.3(PRR14L):c.3404A>G (p.Asn1135Ser)	PRR14L (N504S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607649	NM_173566.3(PRR14L):c.3328G>T (p.Gly1110Cys)	PRR14L (G1110C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219339	NM_173566.3(PRR14L):c.3316A>G (p.Thr1106Ala)	PRR14L (T475A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295589	NM_173566.3(PRR14L):c.3314A>T (p.His1105Leu)	PRR14L (H1105L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364412	NM_173566.3(PRR14L):c.3293G>A (p.Arg1098Gln)	PRR14L (R1098Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590150	NM_173566.3(PRR14L):c.3211G>A (p.Val1071Met)	PRR14L (V1071M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350419	NM_173566.3(PRR14L):c.3191T>G (p.Leu1064Arg)	PRR14L (L1064R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592554	NM_173566.3(PRR14L):c.3124A>G (p.Met1042Val)	PRR14L (M411V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298140	NM_173566.3(PRR14L):c.3118G>T (p.Val1040Phe)	PRR14L (V1040F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219338	NM_173566.3(PRR14L):c.3113C>G (p.Ala1038Gly)	PRR14L (A407G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554419	NM_173566.3(PRR14L):c.2981G>T (p.Ser994Ile)	PRR14L (S363I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219337	NM_173566.3(PRR14L):c.2917C>G (p.Gln973Glu)	PRR14L (Q973E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778917	NM_173566.3(PRR14L):c.2887G>A (p.Asp963Asn)	PRR14L (D963N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2461876	NM_173566.3(PRR14L):c.2854A>G (p.Ser952Gly)	PRR14L (S952G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372439	NM_173566.3(PRR14L):c.2846T>C (p.Met949Thr)	PRR14L (M318T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484185	NM_173566.3(PRR14L):c.2828A>G (p.Asp943Gly)	PRR14L (D943G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219336	NM_173566.3(PRR14L):c.2806C>A (p.Pro936Thr)	PRR14L (P936T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390969	NM_173566.3(PRR14L):c.2765C>T (p.Ser922Phe)	PRR14L (S291F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315996	NM_173566.3(PRR14L):c.2690A>G (p.Lys897Arg)	PRR14L (K266R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602220	NM_173566.3(PRR14L):c.2656T>C (p.Ser886Pro)	PRR14L (S886P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219335	NM_173566.3(PRR14L):c.2614A>G (p.Ile872Val)	PRR14L (I872V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495739	NM_173566.3(PRR14L):c.2490C>A (p.His830Gln)	PRR14L (H199Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360680	NM_173566.3(PRR14L):c.2463A>G (p.Ile821Met)	PRR14L (I821M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219334	NM_173566.3(PRR14L):c.2413G>A (p.Ala805Thr)	PRR14L (A174T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467181	NM_173566.3(PRR14L):c.2411C>G (p.Ser804Cys)	PRR14L (S804C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219333	NM_173566.3(PRR14L):c.2351A>T (p.Asp784Val)	PRR14L (D153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320442	NM_173566.3(PRR14L):c.2329T>G (p.Cys777Gly)	PRR14L (C777G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533998	NM_173566.3(PRR14L):c.2276G>A (p.Arg759His)	PRR14L (R128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208591	NM_173566.3(PRR14L):c.2276G>C (p.Arg759Pro)	PRR14L (R759P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322242	NM_173566.3(PRR14L):c.2200A>T (p.Asn734Tyr)	PRR14L (N103Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512383	NM_173566.3(PRR14L):c.2146A>G (p.Ile716Val)	PRR14L (I85V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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