ClinVar for Gene (Select 152273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278611	NM_152536.4(FGD5):c.1583G>A (p.Gly528Glu)	FGD5 (G528E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278610	NM_152536.4(FGD5):c.1238T>G (p.Val413Gly)	FGD5 (V413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278608	NM_152536.4(FGD5):c.4288C>T (p.His1430Tyr)	FGD5 (H1387Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278607	NM_152536.4(FGD5):c.1604G>C (p.Arg535Thr)	FGD5 (R535T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278606	NM_152536.4(FGD5):c.1777G>A (p.Gly593Arg)	FGD5 (G593R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278605	NM_152536.4(FGD5):c.2419C>G (p.Gln807Glu)	FGD5 (Q807E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278604	NM_152536.4(FGD5):c.2089C>T (p.Arg697Trp)	FGD5 (R697W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278603	NM_152536.4(FGD5):c.2499G>C (p.Gln833His)	FGD5 (Q833H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278602	NM_152536.4(FGD5):c.3542C>G (p.Ser1181Cys)	FGD5 (S1181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278601	NM_152536.4(FGD5):c.3829C>T (p.Arg1277Trp)	FGD5, LOC126806615 (R1277W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278600	NM_152536.4(FGD5):c.4360G>A (p.Glu1454Lys)	FGD5 (E1454K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278599	NM_152536.4(FGD5):c.3781C>T (p.Arg1261Cys)	FGD5, LOC126806615 (R1261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278597	NM_152536.4(FGD5):c.1979C>T (p.Thr660Met)	FGD5 (T660M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278596	NM_152536.4(FGD5):c.1439C>T (p.Thr480Met)	FGD5 (T480M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278595	NM_152536.4(FGD5):c.1870A>G (p.Ile624Val)	FGD5 (I624V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278594	NM_152536.4(FGD5):c.3112C>T (p.Arg1038Trp)	FGD5 (R1038W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3094660	NM_152536.4(FGD5):c.8G>C (p.Arg3Thr)	FGD5 (R3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094659	NM_152536.4(FGD5):c.668G>C (p.Ser223Thr)	FGD5 (S223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094658	NM_152536.4(FGD5):c.648T>G (p.Asp216Glu)	FGD5 (D216E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094657	NM_152536.4(FGD5):c.619C>T (p.Pro207Ser)	FGD5 (P207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094656	NM_152536.4(FGD5):c.4376C>T (p.Ala1459Val)	FGD5 (A1416V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094655	NM_152536.4(FGD5):c.377C>T (p.Pro126Leu)	FGD5 (P126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094654	NM_152536.4(FGD5):c.3454C>T (p.Arg1152Trp)	FGD5 (R1152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094653	NM_152536.4(FGD5):c.3433C>G (p.Pro1145Ala)	FGD5 (P1145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094652	NM_152536.4(FGD5):c.3239G>T (p.Arg1080Leu)	FGD5 (R1080L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094650	NM_152536.4(FGD5):c.277G>A (p.Glu93Lys)	FGD5 (E93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094649	NM_152536.4(FGD5):c.2734C>G (p.Gln912Glu)	FGD5 (Q912E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094648	NM_152536.4(FGD5):c.2306C>T (p.Ala769Val)	FGD5 (A769V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094647	NM_152536.4(FGD5):c.2183G>C (p.Gly728Ala)	FGD5 (G728A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094646	NM_152536.4(FGD5):c.1928C>T (p.Pro643Leu)	FGD5 (P643L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094645	NM_152536.4(FGD5):c.1828T>C (p.Ser610Pro)	FGD5 (S610P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094644	NM_152536.4(FGD5):c.1613C>T (p.Pro538Leu)	FGD5 (P538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094643	NM_152536.4(FGD5):c.157A>G (p.Ile53Val)	FGD5 (I53V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094642	NM_152536.4(FGD5):c.1565C>T (p.Thr522Met)	FGD5 (T522M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094641	NM_152536.4(FGD5):c.14C>T (p.Pro5Leu)	FGD5 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094640	NM_152536.4(FGD5):c.1354G>A (p.Ala452Thr)	FGD5 (A452T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094639	NM_152536.4(FGD5):c.1334G>C (p.Gly445Ala)	FGD5 (G445A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094638	NM_152536.4(FGD5):c.1295T>C (p.Met432Thr)	FGD5 (M432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094637	NM_152536.4(FGD5):c.1235A>T (p.Asp412Val)	FGD5 (D412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3024984	NM_152536.4(FGD5):c.2721C>T (p.Tyr907=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2653590	NM_152536.4(FGD5):c.3544G>A (p.Glu1182Lys)	FGD5 (E1182K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653589	NM_152536.4(FGD5):c.2058C>T (p.Tyr686=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653588	NM_152536.4(FGD5):c.960C>T (p.Ser320=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621749	NM_152536.4(FGD5):c.428T>G (p.Leu143Arg)	FGD5 (L143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617990	NM_152536.4(FGD5):c.3433C>T (p.Pro1145Ser)	FGD5 (P1145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606610	NM_152536.4(FGD5):c.305G>A (p.Arg102His)	FGD5 (R102H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606418	NM_152536.4(FGD5):c.980T>C (p.Ile327Thr)	FGD5 (I327T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605535	NM_152536.4(FGD5):c.1611G>T (p.Leu537Phe)	FGD5 (L537F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604840	NM_152536.4(FGD5):c.257A>G (p.Asn86Ser)	FGD5 (N86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603576	NM_152536.4(FGD5):c.3025C>T (p.Leu1009Phe)	FGD5 (L1009F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596611	NM_152536.4(FGD5):c.215C>T (p.Pro72Leu)	FGD5 (P72L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2587945	NM_152536.4(FGD5):c.4114C>T (p.Arg1372Trp)	FGD5 (R1372W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569091	NM_152536.4(FGD5):c.3301G>A (p.Val1101Ile)	FGD5 (V1101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559076	NM_152536.4(FGD5):c.4043A>G (p.Lys1348Arg)	FGD5 (K1348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551839	NM_152536.4(FGD5):c.1390T>C (p.Cys464Arg)	FGD5 (C464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547462	NM_152536.4(FGD5):c.4287T>G (p.Phe1429Leu)	FGD5 (F1429L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546375	NM_152536.4(FGD5):c.478G>C (p.Val160Leu)	FGD5 (V160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540293	NM_152536.4(FGD5):c.49G>A (p.Ala17Thr)	FGD5 (A17T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539961	NM_152536.4(FGD5):c.892G>C (p.Asp298His)	FGD5 (D298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536358	NM_152536.4(FGD5):c.240C>A (p.Asp80Glu)	FGD5 (D80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535535	NM_152536.4(FGD5):c.3030C>G (p.His1010Gln)	FGD5 (H1010Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528895	NM_152536.4(FGD5):c.3091A>G (p.Thr1031Ala)	FGD5 (T1031A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523784	NM_152536.4(FGD5):c.1696C>G (p.Pro566Ala)	FGD5 (P566A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515234	NM_152536.4(FGD5):c.302A>G (p.Glu101Gly)	FGD5 (E101G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513477	NM_152536.4(FGD5):c.3796G>A (p.Ala1266Thr)	FGD5, LOC126806615 (A1266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511644	NM_152536.4(FGD5):c.1834A>G (p.Met612Val)	FGD5 (M612V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510358	NM_152536.4(FGD5):c.716C>T (p.Thr239Met)	FGD5 (T239M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509195	NM_152536.4(FGD5):c.2392G>A (p.Gly798Ser)	FGD5 (G798S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488669	NM_152536.4(FGD5):c.4004T>C (p.Val1335Ala)	FGD5 (V1335A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468592	NM_152536.4(FGD5):c.1760G>A (p.Cys587Tyr)	FGD5 (C587Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465537	NM_152536.4(FGD5):c.622G>A (p.Asp208Asn)	FGD5 (D208N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411250	NM_152536.4(FGD5):c.3113G>A (p.Arg1038Gln)	FGD5 (R1038Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409318	NM_152536.4(FGD5):c.3603T>G (p.Cys1201Trp)	FGD5 (C1201W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401504	NM_152536.4(FGD5):c.3962C>T (p.Pro1321Leu)	FGD5 (P1321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399330	NM_152536.4(FGD5):c.850G>A (p.Gly284Ser)	FGD5 (G284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399060	NM_152536.4(FGD5):c.2105A>G (p.Asn702Ser)	FGD5 (N702S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395215	NM_152536.4(FGD5):c.766A>G (p.Lys256Glu)	FGD5 (K256E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385430	NM_152536.4(FGD5):c.1917G>C (p.Glu639Asp)	FGD5 (E639D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381393	NM_152536.4(FGD5):c.781G>A (p.Gly261Arg)	FGD5 (G261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378683	NM_152536.4(FGD5):c.525G>C (p.Glu175Asp)	FGD5 (E175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377648	NM_152536.4(FGD5):c.3425A>G (p.Tyr1142Cys)	FGD5 (Y1142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376942	NM_152536.4(FGD5):c.2341A>G (p.Asn781Asp)	FGD5 (N781D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372710	NM_152536.4(FGD5):c.1697C>T (p.Pro566Leu)	FGD5 (P566L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367780	NM_152536.4(FGD5):c.1772C>T (p.Ser591Phe)	FGD5 (S591F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364622	NM_152536.4(FGD5):c.525G>T (p.Glu175Asp)	FGD5 (E175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360422	NM_152536.4(FGD5):c.578A>G (p.Asp193Gly)	FGD5 (D193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357725	NM_152536.4(FGD5):c.1823C>T (p.Thr608Met)	FGD5 (T608M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356875	NM_152536.4(FGD5):c.1225G>A (p.Ala409Thr)	FGD5 (A409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354150	NM_152536.4(FGD5):c.3233C>T (p.Thr1078Ile)	FGD5 (T1078I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353144	NM_152536.4(FGD5):c.10G>T (p.Gly4Cys)	FGD5 (G4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345584	NM_152536.4(FGD5):c.1684G>A (p.Val562Met)	FGD5 (V562M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344303	NM_152536.4(FGD5):c.4082G>C (p.Gly1361Ala)	FGD5 (G1361A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341327	NM_152536.4(FGD5):c.964G>A (p.Glu322Lys)	FGD5 (E322K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339407	NM_152536.4(FGD5):c.1003A>G (p.Met335Val)	FGD5 (M335V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319076	NM_152536.4(FGD5):c.3103C>T (p.Arg1035Trp)	FGD5 (R1035W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319027	NM_152536.4(FGD5):c.199G>A (p.Val67Met)	FGD5 (V67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314400	NM_152536.4(FGD5):c.961G>C (p.Ala321Pro)	FGD5 (A321P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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