ClinVar for Gene (Select 285527) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3097113	NM_015030.2(FRYL):c.982T>A (p.Phe328Ile)	FRYL (F328I)	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 3097111	NM_015030.2(FRYL):c.8653G>A (p.Ala2885Thr)	FRYL (A2885T)	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 3097109	NM_015030.2(FRYL):c.8407T>G (p.Cys2803Gly)	FRYL (C2803G)	Single nucleotide variant (missense variant)	not specified	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 3097106	NM_015030.2(FRYL):c.7975C>G (p.Gln2659Glu)	FRYL (Q2659E)	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 3097103	NM_015030.2(FRYL):c.7540A>G (p.Thr2514Ala)	FRYL (T2514A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097102	NM_015030.2(FRYL):c.752A>G (p.Gln251Arg)	FRYL (Q251R)	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 3097100	NM_015030.2(FRYL):c.6707G>A (p.Ser2236Asn)	FRYL (S2236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097099	NM_015030.2(FRYL):c.5849G>A (p.Arg1950Gln)	FRYL (R1950Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097098	NM_015030.2(FRYL):c.5804G>A (p.Ser1935Asn)	FRYL (S1935N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097097	NM_015030.2(FRYL):c.5280A>G (p.Arg1760=)	FRYL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3097096	NM_015030.2(FRYL):c.4930C>T (p.Arg1644Cys)	FRYL (R1644C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097095	NM_015030.2(FRYL):c.4840G>T (p.Val1614Leu)	FRYL (V1614L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097094	NM_015030.2(FRYL):c.4730C>T (p.Ser1577Leu)	FRYL (S1577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097093	NM_015030.2(FRYL):c.4680G>T (p.Glu1560Asp)	FRYL (E1560D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097092	NM_015030.2(FRYL):c.4306A>G (p.Met1436Val)	FRYL (M1436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097091	NM_015030.2(FRYL):c.4235G>A (p.Gly1412Glu)	FRYL (G1412E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097090	NM_015030.2(FRYL):c.4153G>T (p.Val1385Leu)	FRYL (V1385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097089	NM_015030.2(FRYL):c.3621G>A (p.Met1207Ile)	FRYL (M1207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097088	NM_015030.2(FRYL):c.313G>A (p.Gly105Arg)	FRYL (G105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097087	NM_015030.2(FRYL):c.2794A>G (p.Ile932Val)	FRYL (I932V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097086	NM_015030.2(FRYL):c.2701G>A (p.Gly901Ser)	FRYL (G901S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097085	NM_015030.2(FRYL):c.233T>G (p.Leu78Trp)	FRYL (L78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097084	NM_015030.2(FRYL):c.2285C>T (p.Ser762Leu)	FRYL (S762L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097083	NM_015030.2(FRYL):c.2141G>A (p.Arg714Gln)	FRYL (R714Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097082	NM_015030.2(FRYL):c.1935A>G (p.Ile645Met)	FRYL (I645M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097081	NM_015030.2(FRYL):c.1778G>A (p.Arg593His)	FRYL (R593H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097080	NM_015030.2(FRYL):c.1204A>G (p.Thr402Ala)	FRYL (T402A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685966	GRCh37/hg19 4p11(chr4:48480855-49089361)x3	CWH43, FRYL +4 more	Copy number gain	not provided	GUncertain significance
Select item 2654754	NM_015030.2(FRYL):c.1677T>C (p.Thr559=)	FRYL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654753	NM_015030.2(FRYL):c.4093G>A (p.Val1365Ile)	FRYL (V1365I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654752	NM_015030.2(FRYL):c.5256C>G (p.Thr1752=)	FRYL	Single nucleotide variant (synonymous variant)	not provided	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 2623073	NM_015030.2(FRYL):c.5038G>T (p.Val1680Phe)	FRYL (V1680F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607019	NM_015030.2(FRYL):c.2042C>G (p.Ser681Cys)	FRYL (S681C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601180	NM_015030.2(FRYL):c.2705A>G (p.Tyr902Cys)	FRYL (Y902C)	Single nucleotide variant (missense variant)	not specified	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 2590967	NM_015030.2(FRYL):c.7352G>A (p.Arg2451His)	FRYL (R2451H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2576593	NM_015030.2(FRYL):c.1224del (p.Lys409fs)	FRYL (K409fs)	Deletion (frameshift variant)	FRYL-associated neurodevelopmental disorder	GPathogenic
Select item 2558286	NM_015030.2(FRYL):c.182G>C (p.Ser61Thr)	FRYL (S61T)	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 2555058	NM_015030.2(FRYL):c.7262A>C (p.Gln2421Pro)	FRYL (Q2421P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549075	NM_015030.2(FRYL):c.4094T>C (p.Val1365Ala)	FRYL (V1365A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535944	NM_015030.2(FRYL):c.2752T>G (p.Phe918Val)	FRYL (F918V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519133	NM_015030.2(FRYL):c.481C>T (p.His161Tyr)	FRYL (H161Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508734	NM_015030.2(FRYL):c.2229G>T (p.Glu743Asp)	FRYL (E743D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507726	NM_015030.2(FRYL):c.4567C>T (p.Arg1523Trp)	FRYL (R1523W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496450	NM_015030.2(FRYL):c.4757C>G (p.Thr1586Arg)	FRYL (T1586R)	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
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 2492846	NM_015030.2(FRYL):c.2471A>G (p.Tyr824Cys)	FRYL (Y824C)	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 2477817	NM_015030.2(FRYL):c.4966A>C (p.Asn1656His)	FRYL (N1656H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470574	NM_015030.2(FRYL):c.4255C>T (p.Leu1419Phe)	FRYL (L1419F)	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 2464399	NM_015030.2(FRYL):c.1870C>T (p.Arg624Cys)	FRYL (R624C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403512	NM_015030.2(FRYL):c.2665T>G (p.Ser889Ala)	FRYL (S889A)	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 2387749	NM_015030.2(FRYL):c.6559G>A (p.Ala2187Thr)	FRYL (A2187T)	Single nucleotide variant (missense variant)	not specified	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 2368781	NM_015030.2(FRYL):c.6385A>G (p.Ile2129Val)	FRYL (I2129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359870	NM_015030.2(FRYL):c.5864G>A (p.Arg1955Gln)	FRYL (R1955Q)	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 2359013	NM_015030.2(FRYL):c.8181G>T (p.Glu2727Asp)	FRYL (E2727D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359012	NM_015030.2(FRYL):c.2678C>T (p.Thr893Met)	FRYL (T893M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2346660	NM_015030.2(FRYL):c.2096G>A (p.Arg699Gln)	FRYL (R699Q)	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 2333074	NM_015030.2(FRYL):c.2698A>G (p.Ser900Gly)	FRYL (S900G)	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 2318437	NM_015030.2(FRYL):c.2855T>C (p.Ile952Thr)	FRYL (I952T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297623	NM_015030.2(FRYL):c.4510A>G (p.Ile1504Val)	FRYL (I1504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295813	NM_015030.2(FRYL):c.49A>G (p.Ile17Val)	FRYL (I17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290812	NM_015030.2(FRYL):c.3700C>G (p.Leu1234Val)	FRYL (L1234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290717	NM_015030.2(FRYL):c.4318G>C (p.Glu1440Gln)	FRYL (E1440Q)	Single nucleotide variant (missense variant)	not specified	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 2289180	NM_015030.2(FRYL):c.328C>T (p.Arg110Cys)	FRYL (R110C)	Single nucleotide variant (missense variant)	not specified	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 2283175	NM_015030.2(FRYL):c.4495C>T (p.Pro1499Ser)	FRYL (P1499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278558	NM_015030.2(FRYL):c.3988C>T (p.His1330Tyr)	FRYL (H1330Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273894	NM_015030.2(FRYL):c.4499T>C (p.Ile1500Thr)	FRYL (I1500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269014	NM_015030.2(FRYL):c.2684C>T (p.Ala895Val)	FRYL (A895V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268850	NM_015030.2(FRYL):c.107T>C (p.Met36Thr)	FRYL (M36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265066	NM_015030.2(FRYL):c.2669C>T (p.Pro890Leu)	FRYL (P890L)	Single nucleotide variant (missense variant)	not specified	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 2262170	NM_015030.2(FRYL):c.1345A>G (p.Ile449Val)	FRYL (I449V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259286	NM_015030.2(FRYL):c.1832G>A (p.Arg611Gln)	FRYL (R611Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255953	NM_015030.2(FRYL):c.5722T>C (p.Tyr1908His)	FRYL (Y1908H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254161	NM_015030.2(FRYL):c.4592G>T (p.Arg1531Leu)	FRYL (R1531L)	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 2247107	NM_015030.2(FRYL):c.5963A>G (p.Tyr1988Cys)	FRYL (Y1988C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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