FGD5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	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 2353144	NM_152536.4(FGD5):c.10G>T (p.Gly4Cys)	FGD5 (G4C)	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 2540293	NM_152536.4(FGD5):c.49G>A (p.Ala17Thr)	FGD5 (A17T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2319027	NM_152536.4(FGD5):c.199G>A (p.Val67Met)	FGD5 (V67M)	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 2290331	NM_152536.4(FGD5):c.227A>T (p.Asp76Val)	FGD5 (D76V)	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 2604840	NM_152536.4(FGD5):c.257A>G (p.Asn86Ser)	FGD5 (N86S)	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 2515234	NM_152536.4(FGD5):c.302A>G (p.Glu101Gly)	FGD5 (E101G)	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 3094655	NM_152536.4(FGD5):c.377C>T (p.Pro126Leu)	FGD5 (P126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2204692	NM_152536.4(FGD5):c.451G>A (p.Ala151Thr)	FGD5 (A151T)	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 2378683	NM_152536.4(FGD5):c.525G>C (p.Glu175Asp)	FGD5 (E175D)	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 3094657	NM_152536.4(FGD5):c.619C>T (p.Pro207Ser)	FGD5 (P207S)	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 2288113	NM_152536.4(FGD5):c.638C>T (p.Ala213Val)	FGD5 (A213V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3094659	NM_152536.4(FGD5):c.668G>C (p.Ser223Thr)	FGD5 (S223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2395215	NM_152536.4(FGD5):c.766A>G (p.Lys256Glu)	FGD5 (K256E)	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 2260667	NM_152536.4(FGD5):c.817G>A (p.Glu273Lys)	FGD5 (E273K)	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 2539961	NM_152536.4(FGD5):c.892G>C (p.Asp298His)	FGD5 (D298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217731	NM_152536.4(FGD5):c.932C>T (p.Thr311Ile)	FGD5 (T311I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653588	NM_152536.4(FGD5):c.960C>T (p.Ser320=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2314400	NM_152536.4(FGD5):c.961G>C (p.Ala321Pro)	FGD5 (A321P)	Single nucleotide variant (missense variant)	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 2606418	NM_152536.4(FGD5):c.980T>C (p.Ile327Thr)	FGD5 (I327T)	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 2217248	NM_152536.4(FGD5):c.1204G>A (p.Gly402Ser)	FGD5 (G402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785036	NM_152536.4(FGD5):c.1207G>A (p.Gly403Arg)	FGD5 (G403R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785860	NM_152536.4(FGD5):c.1224C>T (p.Pro408=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3094637	NM_152536.4(FGD5):c.1235A>T (p.Asp412Val)	FGD5 (D412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211144	NM_152536.4(FGD5):c.1289A>G (p.Tyr430Cys)	FGD5 (Y430C)	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 3094639	NM_152536.4(FGD5):c.1334G>C (p.Gly445Ala)	FGD5 (G445A)	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 2551839	NM_152536.4(FGD5):c.1390T>C (p.Cys464Arg)	FGD5 (C464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223257	NM_152536.4(FGD5):c.1471G>A (p.Gly491Ser)	FGD5 (G491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2204607	NM_152536.4(FGD5):c.1597G>T (p.Ala533Ser)	FGD5 (A533S)	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 3094644	NM_152536.4(FGD5):c.1613C>T (p.Pro538Leu)	FGD5 (P538L)	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 2523784	NM_152536.4(FGD5):c.1696C>G (p.Pro566Ala)	FGD5 (P566A)	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 2468592	NM_152536.4(FGD5):c.1760G>A (p.Cys587Tyr)	FGD5 (C587Y)	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 778835	NM_152536.4(FGD5):c.1798C>T (p.His600Tyr)	FGD5 (H600Y)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3094645	NM_152536.4(FGD5):c.1828T>C (p.Ser610Pro)	FGD5 (S610P)	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 2245958	NM_152536.4(FGD5):c.1897T>C (p.Ser633Pro)	FGD5 (S633P)	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 3094646	NM_152536.4(FGD5):c.1928C>T (p.Pro643Leu)	FGD5 (P643L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653589	NM_152536.4(FGD5):c.2058C>T (p.Tyr686=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3094647	NM_152536.4(FGD5):c.2183G>C (p.Gly728Ala)	FGD5 (G728A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273092	NM_152536.4(FGD5):c.2192A>T (p.Lys731Ile)	FGD5 (K731I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280919	NM_152536.4(FGD5):c.2257T>C (p.Phe753Leu)	FGD5 (F753L)	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 2296174	NM_152536.4(FGD5):c.2340G>T (p.Met780Ile)	FGD5 (M780I)	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 2309198	NM_152536.4(FGD5):c.2356A>G (p.Asn786Asp)	FGD5 (N786D)	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 786001	NM_152536.4(FGD5):c.2460C>T (p.Tyr820=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773570	NM_152536.4(FGD5):c.2482G>A (p.Ala828Thr)	FGD5 (A828T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785861	NM_152536.4(FGD5):c.2518G>A (p.Ala840Thr)	FGD5 (A840T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 753079	NM_152536.4(FGD5):c.2556C>T (p.Pro852=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024984	NM_152536.4(FGD5):c.2721C>T (p.Tyr907=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 735507	NM_152536.4(FGD5):c.2909+10C>G	FGD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785862	NM_152536.4(FGD5):c.2970C>T (p.His990=)	FGD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2535535	NM_152536.4(FGD5):c.3030C>G (p.His1010Gln)	FGD5 (H1010Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291170	NM_152536.4(FGD5):c.3082G>A (p.Gly1028Ser)	FGD5 (G1028S)	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 2319076	NM_152536.4(FGD5):c.3103C>T (p.Arg1035Trp)	FGD5 (R1035W)	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 2354150	NM_152536.4(FGD5):c.3233C>T (p.Thr1078Ile)	FGD5 (T1078I)	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 753080	NM_152536.4(FGD5):c.3264+8C>T	FGD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2569091	NM_152536.4(FGD5):c.3301G>A (p.Val1101Ile)	FGD5 (V1101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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