V Guranovic - ClinVar - NCBI

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The following term was not found in ClinVar: Guranovic.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2396347	NM_001005484.2(OR4F5):c.655G>A (p.Val219Met)	OR4F5 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 1367641	NM_001385641.1(SAMD11):c.778A>G (p.Ile260Val)	SAMD11 (I260V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1015275	NM_001385641.1(SAMD11):c.1061C>T (p.Ala354Val)	SAMD11 (A175V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2284430	NM_001385641.1(SAMD11):c.1207G>A (p.Val403Ile)	SAMD11 (V404I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236197	NM_001385641.1(SAMD11):c.1250G>T (p.Gly417Val)	SAMD11 (G254V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 935894	NM_001385641.1(SAMD11):c.1252C>G (p.Leu418Val)	SAMD11 (L255V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2372140	NM_001385641.1(SAMD11):c.1412C>T (p.Ala471Val)	SAMD11 (A472V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554813	NM_001385641.1(SAMD11):c.1426C>G (p.Leu476Val)	SAMD11 (L476V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1399461	NM_001385641.1(SAMD11):c.2030C>T (p.Ala677Val)	SAMD11 (A514V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2306220	NM_001385641.1(SAMD11):c.2212C>G (p.Leu738Val)	SAMD11 (L739V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2421647	NM_001385641.1(SAMD11):c.2228A>T (p.Glu743Val)	SAMD11 (E580V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 862830	NM_001385641.1(SAMD11):c.2291T>G (p.Val764Gly)	SAMD11 (V601G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 957950	NM_001385641.1(SAMD11):c.2324C>T (p.Ala775Val)	SAMD11 (A612V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1464773	NM_001385641.1(SAMD11):c.2527C>G (p.Leu843Val)	SAMD11 (L843V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3200949	NM_015658.4(NOC2L):c.2156A>T (p.Asp719Val)	NOC2L (D719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603677	NM_015658.4(NOC2L):c.1639G>A (p.Val547Met)	NOC2L (V547M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392748	NM_015658.4(NOC2L):c.1510G>A (p.Val504Met)	NOC2L (V504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319690	NM_015658.4(NOC2L):c.1280C>T (p.Ala427Val)	NOC2L (A427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567338	NM_015658.4(NOC2L):c.683C>T (p.Ala228Val)	NOC2L (A228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300213	NM_015658.4(NOC2L):c.680T>G (p.Val227Gly)	NOC2L (V227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210635	NM_015658.4(NOC2L):c.617C>T (p.Ala206Val)	NOC2L (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200954	NM_015658.4(NOC2L):c.527C>T (p.Ala176Val)	NOC2L (A176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378213	NM_198317.3(KLHL17):c.152C>T (p.Ala51Val)	KLHL17 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333582	NM_198317.3(KLHL17):c.484G>A (p.Val162Met)	KLHL17 (V162M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495893	NM_198317.3(KLHL17):c.649G>T (p.Val217Leu)	KLHL17 (V217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616698	NM_198317.3(KLHL17):c.763G>A (p.Val255Ile)	KLHL17 (V255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115511	NM_198317.3(KLHL17):c.976G>A (p.Val326Ile)	KLHL17 (V326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364600	NM_198317.3(KLHL17):c.1258G>T (p.Val420Leu)	KLHL17 (V420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594101	NM_198317.3(KLHL17):c.1340C>T (p.Ala447Val)	KLHL17 (A447V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115501	NM_198317.3(KLHL17):c.1433T>C (p.Val478Ala)	KLHL17 (V478A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288902	NM_198317.3(KLHL17):c.1525G>A (p.Val509Met)	KLHL17 (V509M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288910	NM_198317.3(KLHL17):c.1679T>C (p.Val560Ala)	KLHL17 (V560A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600290	NM_198317.3(KLHL17):c.1682C>T (p.Ala561Val)	KLHL17 (A561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558070	NM_198317.3(KLHL17):c.1903C>G (p.Leu635Val)	KLHL17 (L635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362109	NM_032129.3(PLEKHN1):c.160C>G (p.Leu54Val)	PLEKHN1 (L54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259956	NM_032129.3(PLEKHN1):c.581G>T (p.Gly194Val)	PLEKHN1 (G194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333594	NM_032129.3(PLEKHN1):c.683T>A (p.Val228Asp)	PLEKHN1 (V280D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288645	NM_032129.3(PLEKHN1):c.889G>A (p.Val297Met)	PLEKHN1 (V309M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459706	NM_032129.3(PLEKHN1):c.1498G>T (p.Val500Leu)	PLEKHN1 (V512L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390667	NM_032129.3(PLEKHN1):c.1673G>T (p.Gly558Val)	PLEKHN1 (G610V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495107	NM_032129.3(PLEKHN1):c.1808C>T (p.Ala603Val)	PLEKHN1 (A655V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529794	NM_021170.4(HES4):c.599C>T (p.Ala200Val)	HES4, LOC129929069 (A168V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481298	NM_021170.4(HES4):c.361G>A (p.Val121Met)	HES4, LOC129929069 (V121M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105502	NM_021170.4(HES4):c.280G>A (p.Val94Met)	HES4 (V120M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558762	NM_021170.4(HES4):c.247A>G (p.Met83Val)	HES4 (M83V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621056	NM_021170.4(HES4):c.223C>G (p.Leu75Val)	HES4 (L101V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608545	NM_198576.4(AGRN):c.512C>T (p.Ala171Val)	AGRN (A66V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 656091	NM_198576.4(AGRN):c.523A>G (p.Met175Val)	AGRN (M70V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 2331589	NM_198576.4(AGRN):c.544G>C (p.Val182Leu)	AGRN (V182L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430121	NM_198576.4(AGRN):c.752T>C (p.Val251Ala)	AGRN (V251A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 843558	NM_198576.4(AGRN):c.905C>T (p.Ala302Val)	AGRN (A197V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3276496	NM_198576.4(AGRN):c.1210G>T (p.Val404Leu)	AGRN (V404L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 646543	NM_198576.4(AGRN):c.1411G>A (p.Val471Met)	AGRN (V471M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1439484	NM_198576.4(AGRN):c.1535C>T (p.Ala512Val)	AGRN (A407V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3096718	NM_198576.4(AGRN):c.1688C>T (p.Ala563Val)	AGRN (A563V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 568575	NM_198576.4(AGRN):c.1744G>A (p.Val582Met)	AGRN (V582M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 541160	NM_198576.4(AGRN):c.1891G>A (p.Val631Met)	AGRN (V631M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 835583	NM_198576.4(AGRN):c.2350G>A (p.Val784Met)	AGRN (V784M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 772347	NM_198576.4(AGRN):c.2563G>A (p.Val855Met)	AGRN (V855M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 235570	NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)	AGRN (A897V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +3 more	GConflicting classifications of pathogenicity
Select item 662044	NM_198576.4(AGRN):c.2705C>T (p.Ala902Val)	AGRN (A797V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 474109	NM_198576.4(AGRN):c.2737G>A (p.Val913Met)	AGRN (V913M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 3096840	NM_198576.4(AGRN):c.2896C>G (p.Leu966Val)	AGRN (L861V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237843	NM_198576.4(AGRN):c.2989C>G (p.Leu997Val)	AGRN (L997V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595878	NM_198576.4(AGRN):c.3112G>A (p.Val1038Met)	AGRN (V933M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 2240486	NM_198576.4(AGRN):c.3374G>T (p.Gly1125Val)	AGRN (G1125V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 837139	NM_198576.4(AGRN):c.3460A>G (p.Met1154Val)	AGRN (M1154V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 1016414	NM_198576.4(AGRN):c.3544G>A (p.Val1182Ile)	AGRN (V1077I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2255878	NM_198576.4(AGRN):c.4085G>T (p.Gly1362Val)	AGRN (G1362V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1020615	NM_198576.4(AGRN):c.4534G>A (p.Val1512Met)	AGRN (V1407M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 965713	NM_198576.4(AGRN):c.4633G>A (p.Val1545Met)	AGRN (V1545M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 661322	NM_198576.4(AGRN):c.4741G>A (p.Val1581Ile)	AGRN (V1476I +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 2606345	NM_198576.4(AGRN):c.4895G>T (p.Gly1632Val)	AGRN (G1527V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541154	NM_198576.4(AGRN):c.5071G>A (p.Val1691Met)	AGRN (V1691M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998528	NM_198576.4(AGRN):c.5210C>T (p.Ala1737Val)	AGRN (A1632V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3097074	NM_198576.4(AGRN):c.5218G>A (p.Val1740Met)	AGRN (V1635M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097119	NM_198576.4(AGRN):c.5510C>T (p.Ala1837Val)	AGRN (A1736V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474157	NM_198576.4(AGRN):c.5735C>T (p.Ala1912Val)	AGRN (A1912V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1029353	NM_198576.4(AGRN):c.5839G>A (p.Val1947Ile)	AGRN (V1947I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474167	NM_198576.4(AGRN):c.6068G>T (p.Gly2023Val)	AGRN (G2023V +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 3155360	NM_001205252.2(RNF223):c.653C>T (p.Ala218Val)	RNF223 (A218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316168	NM_001205252.2(RNF223):c.478G>A (p.Val160Met)	RNF223 (V160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155353	NM_001205252.2(RNF223):c.404T>G (p.Val135Gly)	RNF223 (V135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367524	NM_001205252.2(RNF223):c.380C>T (p.Ala127Val)	RNF223 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605029	NM_001205252.2(RNF223):c.368C>T (p.Ala123Val)	RNF223 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363842	NM_001205252.2(RNF223):c.217G>A (p.Val73Ile)	RNF223 (V73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155349	NM_001205252.2(RNF223):c.145C>G (p.Leu49Val)	RNF223 (L49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283877	NM_001205252.2(RNF223):c.92C>T (p.Ala31Val)	RNF223 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368185	NM_017891.5(C1orf159):c.109G>A (p.Val37Ile)	C1orf159 (V73I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601647	NM_001130045.2(TTLL10):c.220A>G (p.Met74Val)	TTLL10 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487189	NM_001130045.2(TTLL10):c.589G>A (p.Val197Ile)	TTLL10 (V124I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511157	NM_001130045.2(TTLL10):c.743G>T (p.Gly248Val)	TTLL10 (G175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184536	NM_001130045.2(TTLL10):c.841A>G (p.Met281Val)	TTLL10 (M281V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591812	NM_001130045.2(TTLL10):c.1078G>A (p.Val360Met)	TTLL10 (V287M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184512	NM_001130045.2(TTLL10):c.1150A>G (p.Ile384Val)	TTLL10 (I311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237176	NM_001130045.2(TTLL10):c.1309G>A (p.Val437Met)	TTLL10 (V364M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329966	NM_001130045.2(TTLL10):c.1519G>A (p.Val507Ile)	TTLL10 (V507I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568705	NM_004195.3(TNFRSF18):c.*63C>T	TNFRSF18 (A193V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3180258	NM_004195.3(TNFRSF18):c.62C>T (p.Ala21Val)	TNFRSF18 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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