Related gene-specific medical variations for Gene (Select 339400) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1448

<< First< Prev

Page of 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235868	NM_002016.2(FLG):c.5050_5051delinsA (p.Arg1684fs)	CCDST, FLG (R1684fs)	Indel (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 3234517	NM_002016.2(FLG):c.2118A>C (p.Glu706Asp)	CCDST, FLG (E706D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3234235	NM_002016.2(FLG):c.5001A>C (p.Ala1667=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095634	NM_001014342.3(FLG2):c.6835G>A (p.Ala2279Thr)	CCDST, FLG2 (A2279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095633	NM_001014342.3(FLG2):c.6647A>T (p.His2216Leu)	CCDST, FLG2 (H2216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095632	NM_001014342.3(FLG2):c.6617C>T (p.Ser2206Phe)	CCDST, FLG2 (S2206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095631	NM_001014342.3(FLG2):c.6506G>C (p.Gly2169Ala)	CCDST, FLG2 (G2169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095630	NM_001014342.3(FLG2):c.6349G>C (p.Val2117Leu)	CCDST, FLG2 (V2117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095629	NM_001014342.3(FLG2):c.6068C>T (p.Thr2023Ile)	CCDST, FLG2 (T2023I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095628	NM_001014342.3(FLG2):c.5939G>T (p.Gly1980Val)	CCDST, FLG2 (G1980V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095627	NM_001014342.3(FLG2):c.5905C>T (p.His1969Tyr)	CCDST, FLG2 (H1969Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095626	NM_001014342.3(FLG2):c.5905C>A (p.His1969Asn)	CCDST, FLG2 (H1969N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095625	NM_001014342.3(FLG2):c.5597C>G (p.Thr1866Arg)	CCDST, FLG2 (T1866R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095624	NM_001014342.3(FLG2):c.5581G>T (p.Gly1861Cys)	CCDST, FLG2 (G1861C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095623	NM_001014342.3(FLG2):c.5578T>C (p.Ser1860Pro)	CCDST, FLG2 (S1860P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095622	NM_001014342.3(FLG2):c.5191T>G (p.Tyr1731Asp)	CCDST, FLG2 (Y1731D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095621	NM_001014342.3(FLG2):c.5017A>T (p.Thr1673Ser)	CCDST, FLG2 (T1673S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095620	NM_001014342.3(FLG2):c.4981G>T (p.Val1661Leu)	CCDST, FLG2 (V1661L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095619	NM_001014342.3(FLG2):c.4923A>T (p.Arg1641Ser)	CCDST, FLG2 (R1641S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095618	NM_001014342.3(FLG2):c.4856C>A (p.Thr1619Asn)	CCDST, FLG2 (T1619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095617	NM_001014342.3(FLG2):c.4669G>A (p.Gly1557Ser)	CCDST, FLG2 (G1557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095616	NM_001014342.3(FLG2):c.4164T>A (p.His1388Gln)	CCDST, FLG2 (H1388Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095614	NM_001014342.3(FLG2):c.3424G>T (p.Ala1142Ser)	CCDST, FLG2 (A1142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095613	NM_001014342.3(FLG2):c.3365C>T (p.Ser1122Leu)	CCDST, FLG2 (S1122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095612	NM_001014342.3(FLG2):c.3266A>G (p.Tyr1089Cys)	CCDST, FLG2 (Y1089C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095611	NM_001014342.3(FLG2):c.3110G>T (p.Gly1037Val)	CCDST, FLG2 (G1037V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095610	NM_001014342.3(FLG2):c.2942C>T (p.Ser981Leu)	CCDST, FLG2 (S981L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095609	NM_001014342.3(FLG2):c.2780C>A (p.Ser927Tyr)	CCDST, FLG2 (S927Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095607	NM_001014342.3(FLG2):c.2563T>A (p.Ser855Thr)	CCDST, FLG2 (S855T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095606	NM_001014342.3(FLG2):c.2471G>T (p.Gly824Val)	CCDST, FLG2 (G824V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095605	NM_001014342.3(FLG2):c.2449T>C (p.Ser817Pro)	CCDST, FLG2 (S817P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095604	NM_001014342.3(FLG2):c.2353C>A (p.Gln785Lys)	CCDST, FLG2 (Q785K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095602	NM_001014342.3(FLG2):c.2333G>C (p.Ser778Thr)	CCDST, FLG2 (S778T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095601	NM_001014342.3(FLG2):c.2329T>C (p.Ser777Pro)	CCDST, FLG2 (S777P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095600	NM_001014342.3(FLG2):c.2125C>T (p.His709Tyr)	CCDST, FLG2 (H709Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095599	NM_001014342.3(FLG2):c.1912C>G (p.Gln638Glu)	CCDST, FLG2 (Q638E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095598	NM_001014342.3(FLG2):c.1640G>A (p.Gly547Asp)	CCDST, FLG2 (G547D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095597	NM_001014342.3(FLG2):c.1636C>T (p.His546Tyr)	CCDST, FLG2 (H546Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095596	NM_001014342.3(FLG2):c.1106A>T (p.Gln369Leu)	CCDST, FLG2 (Q369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095595	NM_001014342.3(FLG2):c.109C>G (p.Leu37Val)	CCDST, FLG2 (L37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095594	NM_002016.2(FLG):c.9973T>C (p.Ser3325Pro)	CCDST, FLG (S3325P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095592	NM_002016.2(FLG):c.9952A>C (p.Ile3318Leu)	CCDST, FLG (I3318L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095591	NM_002016.2(FLG):c.9771T>A (p.His3257Gln)	CCDST, FLG (H3257Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095590	NM_002016.2(FLG):c.9747C>A (p.His3249Gln)	CCDST, FLG (H3249Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095589	NM_002016.2(FLG):c.9656G>A (p.Ser3219Asn)	CCDST, FLG (S3219N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095588	NM_002016.2(FLG):c.9647G>A (p.Ser3216Asn)	CCDST, FLG (S3216N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095586	NM_002016.2(FLG):c.9620G>C (p.Arg3207Thr)	CCDST, FLG (R3207T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095585	NM_002016.2(FLG):c.9566C>T (p.Ala3189Val)	CCDST, FLG (A3189V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095584	NM_002016.2(FLG):c.9557C>T (p.Ser3186Phe)	CCDST, FLG (S3186F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095583	NM_002016.2(FLG):c.9472T>A (p.Ser3158Thr)	CCDST, FLG (S3158T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095582	NM_002016.2(FLG):c.9458G>A (p.Arg3153His)	CCDST, FLG (R3153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095581	NM_002016.2(FLG):c.9433T>C (p.Ser3145Pro)	CCDST, FLG (S3145P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095580	NM_002016.2(FLG):c.9379G>A (p.Glu3127Lys)	CCDST, FLG (E3127K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095579	NM_002016.2(FLG):c.9344G>T (p.Gly3115Val)	CCDST, FLG (G3115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095578	NM_002016.2(FLG):c.9268C>T (p.Arg3090Cys)	CCDST, FLG (R3090C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095576	NM_002016.2(FLG):c.914G>A (p.Gly305Glu)	CCDST, FLG (G305E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095575	NM_002016.2(FLG):c.9109G>A (p.Ala3037Thr)	CCDST, FLG (A3037T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095574	NM_002016.2(FLG):c.8989G>A (p.Gly2997Arg)	CCDST, FLG (G2997R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095573	NM_002016.2(FLG):c.8858G>C (p.Arg2953Pro)	CCDST, FLG (R2953P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095571	NM_002016.2(FLG):c.8842A>G (p.Arg2948Gly)	CCDST, FLG (R2948G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095570	NM_002016.2(FLG):c.8828C>A (p.Ser2943Tyr)	CCDST, FLG (S2943Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095568	NM_002016.2(FLG):c.8753C>G (p.Ser2918Cys)	CCDST, FLG (S2918C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095567	NM_002016.2(FLG):c.8707G>A (p.Asp2903Asn)	CCDST, FLG (D2903N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095566	NM_002016.2(FLG):c.859T>C (p.Ser287Pro)	CCDST, FLG (S287P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3095565	NM_002016.2(FLG):c.8455A>G (p.Thr2819Ala)	CCDST, FLG (T2819A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095564	NM_002016.2(FLG):c.8404C>G (p.His2802Asp)	CCDST, FLG (H2802D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095562	NM_002016.2(FLG):c.8347C>G (p.Gln2783Glu)	CCDST, FLG (Q2783E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095561	NM_002016.2(FLG):c.8254C>G (p.His2752Asp)	CCDST, FLG (H2752D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095560	NM_002016.2(FLG):c.8180G>A (p.Arg2727Gln)	CCDST, FLG (R2727Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095559	NM_002016.2(FLG):c.8176G>T (p.Gly2726Cys)	CCDST, FLG (G2726C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095558	NM_002016.2(FLG):c.8056G>A (p.Gly2686Arg)	CCDST, FLG (G2686R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095557	NM_002016.2(FLG):c.799T>A (p.Ser267Thr)	CCDST, FLG (S267T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095556	NM_002016.2(FLG):c.7834G>T (p.Asp2612Tyr)	CCDST, FLG (D2612Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095555	NM_002016.2(FLG):c.7775A>C (p.His2592Pro)	CCDST, FLG (H2592P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095554	NM_002016.2(FLG):c.7698T>G (p.Ser2566Arg)	CCDST, FLG (S2566R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095553	NM_002016.2(FLG):c.7687T>C (p.Trp2563Arg)	CCDST, FLG (W2563R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095552	NM_002016.2(FLG):c.7669C>T (p.Pro2557Ser)	CCDST, FLG (P2557S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095551	NM_002016.2(FLG):c.7664A>C (p.Glu2555Ala)	CCDST, FLG (E2555A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095550	NM_002016.2(FLG):c.7645G>T (p.Val2549Leu)	CCDST, FLG (V2549L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095549	NM_002016.2(FLG):c.7598G>A (p.Arg2533His)	CCDST, FLG (R2533H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095548	NM_002016.2(FLG):c.7588T>A (p.Ser2530Thr)	CCDST, FLG (S2530T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095547	NM_002016.2(FLG):c.7479C>G (p.Ser2493Arg)	CCDST, FLG (S2493R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095545	NM_002016.2(FLG):c.731A>G (p.Tyr244Cys)	CCDST, FLG (Y244C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095544	NM_002016.2(FLG):c.7289G>A (p.Arg2430Gln)	CCDST, FLG (R2430Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095543	NM_002016.2(FLG):c.7279G>T (p.Ala2427Ser)	CCDST, FLG (A2427S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095542	NM_002016.2(FLG):c.7208G>A (p.Arg2403Gln)	CCDST, FLG (R2403Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095541	NM_002016.2(FLG):c.7195T>C (p.Ser2399Pro)	CCDST, FLG (S2399P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095540	NM_002016.2(FLG):c.7112G>C (p.Ser2371Thr)	CCDST, FLG (S2371T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095539	NM_002016.2(FLG):c.7112G>A (p.Ser2371Asn)	CCDST, FLG (S2371N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095538	NM_002016.2(FLG):c.7073G>A (p.Ser2358Asn)	CCDST, FLG (S2358N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095537	NM_002016.2(FLG):c.7037T>A (p.Ile2346Asn)	CCDST, FLG (I2346N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095536	NM_002016.2(FLG):c.7024A>G (p.Arg2342Gly)	CCDST, FLG (R2342G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095534	NM_002016.2(FLG):c.6962A>C (p.Gln2321Pro)	CCDST, FLG (Q2321P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095533	NM_002016.2(FLG):c.6917A>G (p.His2306Arg)	CCDST, FLG (H2306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095532	NM_002016.2(FLG):c.6914A>G (p.His2305Arg)	CCDST, FLG (H2305R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095531	NM_002016.2(FLG):c.6872G>C (p.Gly2291Ala)	CCDST, FLG (G2291A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095530	NM_002016.2(FLG):c.6829G>C (p.Asp2277His)	CCDST, FLG (D2277H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3095529	NM_002016.2(FLG):c.6811G>A (p.Ala2271Thr)	CCDST, FLG (A2271T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095528	NM_002016.2(FLG):c.6797A>G (p.Asn2266Ser)	CCDST, FLG (N2266S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095527	NM_002016.2(FLG):c.6741T>G (p.Ser2247Arg)	CCDST, FLG (S2247R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 15