FRYL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	PDS5A, PGCKA1 +1270 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992453, LOC129992454 +1413 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC129992560, LOC129992561 +172 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +245 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	ATP10D, CNGA1 +81 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2289181	NM_015030.2(FRYL):c.8971C>T (p.Arg2991Cys)	FRYL (R2991C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097112	NM_015030.2(FRYL):c.8920G>A (p.Glu2974Lys)	FRYL (E2974K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692417	NM_015030.2(FRYL):c.8852A>G (p.Tyr2951Cys)	FRYL (Y2951C)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 3851858	NM_015030.2(FRYL):c.8816G>C (p.Cys2939Ser)	FRYL (C2939S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342492	NM_015030.2(FRYL):c.8729A>C (p.Glu2910Ala)	FRYL (E2910A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279987	NM_015030.2(FRYL):c.8702T>G (p.Ile2901Arg)	FRYL (I2901R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3517400	NM_015030.2(FRYL):c.8659G>A (p.Glu2887Lys)	FRYL (E2887K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097111	NM_015030.2(FRYL):c.8653G>A (p.Ala2885Thr)	FRYL (A2885T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3905490	NM_015030.2(FRYL):c.8646T>C (p.Ala2882=)	FRYL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347068	NM_015030.2(FRYL):c.8629A>G (p.Ser2877Gly)	FRYL (S2877G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097110	NM_015030.2(FRYL):c.8581A>T (p.Asn2861Tyr)	FRYL (N2861Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3517417	NM_015030.2(FRYL):c.8505A>C (p.Leu2835Phe)	FRYL (L2835F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243396	NM_015030.2(FRYL):c.8501G>T (p.Arg2834Ile)	FRYL (R2834I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254021	NM_015030.2(FRYL):c.8446A>G (p.Ile2816Val)	FRYL (I2816V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851866	NM_015030.2(FRYL):c.8433A>C (p.Glu2811Asp)	FRYL (E2811D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279981	NM_015030.2(FRYL):c.8420T>C (p.Phe2807Ser)	FRYL (F2807S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3517401	NM_015030.2(FRYL):c.8407T>A (p.Cys2803Ser)	FRYL (C2803S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097109	NM_015030.2(FRYL):c.8407T>G (p.Cys2803Gly)	FRYL (C2803G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851833	NM_015030.2(FRYL):c.8369A>G (p.Asn2790Ser)	FRYL (N2790S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342740	NM_015030.2(FRYL):c.8350G>A (p.Glu2784Lys)	FRYL (E2784K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2204434	NM_015030.2(FRYL):c.8301G>T (p.Met2767Ile)	FRYL (M2767I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321077	NM_015030.2(FRYL):c.8287G>T (p.Ala2763Ser)	FRYL (A2763S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851851	NM_015030.2(FRYL):c.8284G>C (p.Asp2762His)	FRYL (D2762H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342565	NM_015030.2(FRYL):c.8222C>T (p.Thr2741Ile)	FRYL (T2741I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2359013	NM_015030.2(FRYL):c.8181G>T (p.Glu2727Asp)	FRYL (E2727D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3731237	NM_015030.2(FRYL):c.8123A>T (p.His2708Leu)	FRYL (H2708L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692424	NM_015030.2(FRYL):c.8079_8080del (p.Gln2693fs)	FRYL (Q2693fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 3097108	NM_015030.2(FRYL):c.8062C>T (p.Arg2688Cys)	FRYL (R2688C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097107	NM_015030.2(FRYL):c.8032G>A (p.Val2678Met)	FRYL (V2678M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365873	NM_015030.2(FRYL):c.7998_8001del (p.Ser2669fs)	FRYL (S2669fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2386970	NM_015030.2(FRYL):c.7991C>T (p.Pro2664Leu)	FRYL (P2664L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851855	NM_015030.2(FRYL):c.7982C>T (p.Ser2661Leu)	FRYL (S2661L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851839	NM_015030.2(FRYL):c.7978A>T (p.Thr2660Ser)	FRYL (T2660S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097106	NM_015030.2(FRYL):c.7975C>G (p.Gln2659Glu)	FRYL (Q2659E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3367426	NM_015030.2(FRYL):c.7947dup (p.Glu2650fs)	FRYL (E2650fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3517411	NM_015030.2(FRYL):c.7944T>A (p.Asp2648Glu)	FRYL (D2648E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279978	NM_015030.2(FRYL):c.7940A>G (p.Gln2647Arg)	FRYL (Q2647R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342635	NM_015030.2(FRYL):c.7934C>T (p.Ser2645Phe)	FRYL (S2645F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279975	NM_015030.2(FRYL):c.7927G>A (p.Gly2643Arg)	FRYL (G2643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492160	NM_015030.2(FRYL):c.7913A>C (p.Glu2638Ala)	FRYL (E2638A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851861	NM_015030.2(FRYL):c.7901G>A (p.Cys2634Tyr)	FRYL (C2634Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097105	NM_015030.2(FRYL):c.7828G>A (p.Ala2610Thr)	FRYL (A2610T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3683209	NM_015030.2(FRYL):c.7775_7776del (p.Leu2592fs)	FRYL (L2592fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3697056	NM_015030.2(FRYL):c.7766A>T (p.Gln2589Leu)	FRYL (Q2589L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286283	NM_015030.2(FRYL):c.7726A>G (p.Thr2576Ala)	FRYL (T2576A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3342360	NM_015030.2(FRYL):c.7706T>G (p.Leu2569Ter)	FRYL (L2569*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3730963	NM_015030.2(FRYL):c.7689+3G>A	FRYL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2263802	NM_015030.2(FRYL):c.7679G>A (p.Arg2560Gln)	FRYL (R2560Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2654751	NM_015030.2(FRYL):c.7632G>A (p.Arg2544=)	FRYL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097103	NM_015030.2(FRYL):c.7540A>G (p.Thr2514Ala)	FRYL (T2514A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3517418	NM_015030.2(FRYL):c.7531G>A (p.Asp2511Asn)	FRYL (D2511N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344893	NM_015030.2(FRYL):c.7520T>A (p.Met2507Lys)	FRYL (M2507K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851850	NM_015030.2(FRYL):c.7517A>G (p.Gln2506Arg)	FRYL (Q2506R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556159	NM_015030.2(FRYL):c.7511G>A (p.Arg2504His)	FRYL (R2504H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3372250	NM_015030.2(FRYL):c.7364T>C (p.Leu2455Pro)	FRYL (L2455P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2590967	NM_015030.2(FRYL):c.7352G>A (p.Arg2451His)	FRYL (R2451H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3517410	NM_015030.2(FRYL):c.7351C>T (p.Arg2451Cys)	FRYL (R2451C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279990	NM_015030.2(FRYL):c.7321G>C (p.Glu2441Gln)	FRYL (E2441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555058	NM_015030.2(FRYL):c.7262A>C (p.Gln2421Pro)	FRYL (Q2421P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692416	NM_015030.2(FRYL):c.7190G>T (p.Ser2397Ile)	FRYL (S2397I)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 3851842	NM_015030.2(FRYL):c.7174G>A (p.Gly2392Ser)	FRYL (G2392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097101	NM_015030.2(FRYL):c.7067G>A (p.Arg2356Gln)	FRYL (R2356Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851863	NM_015030.2(FRYL):c.7051C>T (p.Pro2351Ser)	FRYL (P2351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3731167	NM_015030.2(FRYL):c.7009G>C (p.Gly2337Arg)	FRYL (G2337R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3517404	NM_015030.2(FRYL):c.6898T>C (p.Ser2300Pro)	FRYL (S2300P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692415	NM_015030.2(FRYL):c.6884T>C (p.Phe2295Ser)	FRYL (F2295S)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2598251	NM_015030.2(FRYL):c.6880G>A (p.Asp2294Asn)	FRYL (D2294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469276	NM_015030.2(FRYL):c.6815C>A (p.Ser2272Tyr)	FRYL (S2272Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3726493	NM_015030.2(FRYL):c.6812G>T (p.Gly2271Val)	FRYL (G2271V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3517397	NM_015030.2(FRYL):c.6772G>A (p.Val2258Ile)	FRYL (V2258I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851840	NM_015030.2(FRYL):c.6755G>A (p.Arg2252His)	FRYL (R2252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097100	NM_015030.2(FRYL):c.6707G>A (p.Ser2236Asn)	FRYL (S2236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851838	NM_015030.2(FRYL):c.6629G>C (p.Ser2210Thr)	FRYL (S2210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279982	NM_015030.2(FRYL):c.6627G>C (p.Leu2209Phe)	FRYL (L2209F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851864	NM_015030.2(FRYL):c.6584C>A (p.Ser2195Tyr)	FRYL (S2195Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387749	NM_015030.2(FRYL):c.6559G>A (p.Ala2187Thr)	FRYL (A2187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3517421	NM_015030.2(FRYL):c.6536C>T (p.Thr2179Ile)	FRYL (T2179I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393502	NM_015030.2(FRYL):c.6529G>T (p.Asp2177Tyr)	FRYL (D2177Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359045	NM_015030.2(FRYL):c.6515A>G (p.His2172Arg)	FRYL (H2172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3517399	NM_015030.2(FRYL):c.6464C>T (p.Thr2155Met)	FRYL (T2155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3364756	NM_015030.2(FRYL):c.6453C>A (p.Tyr2151Ter)	FRYL (Y2151*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2368781	NM_015030.2(FRYL):c.6385A>G (p.Ile2129Val)	FRYL (I2129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851853	NM_015030.2(FRYL):c.6383G>A (p.Arg2128Gln)	FRYL (R2128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342465	NM_015030.2(FRYL):c.6382C>T (p.Arg2128Ter)	FRYL (R2128*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2494442	NM_015030.2(FRYL):c.6364T>A (p.Cys2122Ser)	FRYL (C2122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3384288	NM_015030.2(FRYL):c.6238C>T (p.Leu2080Phe)	FRYL (L2080F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3517415	NM_015030.2(FRYL):c.6229G>T (p.Val2077Leu)	FRYL (V2077L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279980	NM_015030.2(FRYL):c.6208G>A (p.Ala2070Thr)	FRYL (A2070T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851845	NM_015030.2(FRYL):c.6187T>C (p.Phe2063Leu)	FRYL (F2063L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3851852	NM_015030.2(FRYL):c.6164A>G (p.Asn2055Ser)	FRYL (N2055S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229923	NM_015030.2(FRYL):c.6107A>G (p.Asp2036Gly)	FRYL (D2036G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342495	NM_015030.2(FRYL):c.6018A>G (p.Ile2006Met)	FRYL (I2006M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247107	NM_015030.2(FRYL):c.5963A>G (p.Tyr1988Cys)	FRYL (Y1988C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495583	NM_015030.2(FRYL):c.5866C>T (p.Arg1956Trp)	FRYL (R1956W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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