ClinVar for Gene (Select 5339) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379840	NM_201384.3(PLEC):c.6023T>C (p.Leu2008Pro)	PLEC (L1976P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379839	NM_201384.3(PLEC):c.8819A>T (p.Asp2940Val)	PLEC (D1840V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379838	NM_201384.3(PLEC):c.10780G>A (p.Asp3594Asn)	PLEC (D2494N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375429	NM_201384.3(PLEC):c.13589G>A (p.Arg4530His)	PLEC (R3430H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3375427	NM_201384.3(PLEC):c.7534G>A (p.Glu2512Lys)	PLEC (E1412K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3375286	NM_201384.3(PLEC):c.13314T>G (p.Pro4438=)	PLEC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3373718	NM_201384.3(PLEC):c.12242C>T (p.Thr4081Ile)	PLEC (T2981I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367192	NM_201384.3(PLEC):c.6862C>T (p.Gln2288Ter)	PLEC (Q2256* +6 more)	Single nucleotide variant (nonsense +1 more)	Epidermolysis bullosa simplex with nail dystrophy	GPathogenic
Select item 3358033	NM_201378.4(PLEC):c.71-5978G>A	PLEC	Single nucleotide variant (5 prime UTR variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3357436	NM_201384.3(PLEC):c.1620T>C (p.Asp540=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related disorder	GLikely benign
Select item 3356286	NM_201378.4(PLEC):c.71-11660G>C	PLEC (V119L)	Single nucleotide variant (missense variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3355815	NM_201378.4(PLEC):c.-20CGCGCCC[3]	PLEC	Microsatellite (5 prime UTR variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3354457	NM_201384.3(PLEC):c.6357G>A (p.Gln2119=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3353756	NM_201378.4(PLEC):c.71-3784G>A	PLEC, LOC130001342 (V14I)	Single nucleotide variant (missense variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3353314	NM_201384.3(PLEC):c.7191C>T (p.Ala2397=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3350854	NM_201384.3(PLEC):c.27G>A (p.Pro9=)	LOC130001338, PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related disorder	GLikely benign
Select item 3347472	NM_201384.3(PLEC):c.4167G>T (p.Glu1389Asp)	PLEC (E1357D +6 more)	Single nucleotide variant (missense variant +1 more)	PLEC-related disorder	GUncertain significance
Select item 3346970	NM_201384.3(PLEC):c.4051_4052delinsTA (p.Ala1351Tyr)	PLEC (A1319Y +6 more)	Indel (missense variant +1 more)	PLEC-related disorder	GUncertain significance
Select item 3345258	NM_201384.3(PLEC):c.4553C>T (p.Ala1518Val)	PLEC (A1486V +6 more)	Single nucleotide variant (missense variant +1 more)	PLEC-related disorder	GUncertain significance
Select item 3344664	NM_201384.3(PLEC):c.11798G>A (p.Ser3933Asn)	PLEC (S2833N +7 more)	Single nucleotide variant (missense variant)	PLEC-related disorder	GUncertain significance
Select item 3342866	NM_201384.3(PLEC):c.13319C>T (p.Thr4440Ile)	PLEC (T3340I +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340882	NM_201378.4(PLEC):c.71-3741C>T	LOC130001342, PLEC (P28L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339976	NM_201384.3(PLEC):c.112+17C>T	PLEC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3338918	NM_201384.3(PLEC):c.966G>A (p.Leu322=)	PLEC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3338901	NM_201378.4(PLEC):c.71-3742C>G	LOC130001342, PLEC (P28A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3307471	NM_201384.3(PLEC):c.10972A>C (p.Ile3658Leu)	PLEC (I3658L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307469	NM_201384.3(PLEC):c.8498G>A (p.Gly2833Asp)	PLEC (G2811D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307468	NM_201384.3(PLEC):c.12310C>G (p.Leu4104Val)	PLEC (L4131V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307467	NM_201384.3(PLEC):c.5448G>C (p.Gln1816His)	PLEC (Q1802H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3307466	NM_201384.3(PLEC):c.5221C>G (p.Arg1741Gly)	PLEC (R1709G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3307464	NM_201384.3(PLEC):c.8095G>T (p.Ala2699Ser)	PLEC (A2677S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307463	NM_201384.3(PLEC):c.11944G>A (p.Gly3982Arg)	PLEC (G3950R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307462	NM_201384.3(PLEC):c.9493G>A (p.Glu3165Lys)	PLEC (E3133K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3307461	NM_201384.3(PLEC):c.13462G>A (p.Gly4488Ser)	PLEC (G4456S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307460	NM_201384.3(PLEC):c.5231C>T (p.Ala1744Val)	PLEC (A1748V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3307459	NM_201384.3(PLEC):c.3237C>A (p.Ser1079Arg)	PLEC (S1079R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307458	NM_201384.3(PLEC):c.3236G>T (p.Ser1079Ile)	PLEC (S1079I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307456	NM_201384.3(PLEC):c.9655G>A (p.Ala3219Thr)	PLEC (A2119T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307455	NM_201384.3(PLEC):c.2144A>T (p.Glu715Val)	PLEC (E715V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307454	NM_201384.3(PLEC):c.12991C>T (p.Pro4331Ser)	PLEC (P3231S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307453	NM_201384.3(PLEC):c.12989T>G (p.Phe4330Cys)	PLEC (F4298C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307452	NM_201384.3(PLEC):c.12880A>G (p.Ile4294Val)	PLEC (I4272V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307451	NM_201384.3(PLEC):c.12861G>C (p.Glu4287Asp)	PLEC (E3187D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307450	NM_201384.3(PLEC):c.10468C>A (p.Gln3490Lys)	PLEC (Q3458K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307449	NM_201384.3(PLEC):c.10458C>G (p.Asp3486Glu)	PLEC (D3472E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3307447	NM_201384.3(PLEC):c.7972C>G (p.Leu2658Val)	PLEC (L2662V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307446	NM_201384.3(PLEC):c.8403C>A (p.His2801Gln)	PLEC (H2779Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307445	NM_201384.3(PLEC):c.2329T>C (p.Tyr777His)	PLEC (Y755H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307443	NM_201384.3(PLEC):c.1759C>G (p.Arg587Gly)	PLEC (R591G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307442	NM_201384.3(PLEC):c.12896A>G (p.His4299Arg)	PLEC (H4285R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307441	NM_201384.3(PLEC):c.10618C>T (p.Leu3540Phe)	PLEC (L3508F +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307439	NM_201384.3(PLEC):c.862G>T (p.Val288Leu)	PLEC (V266L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257122	NM_201384.3(PLEC):c.5868G>C (p.Glu1956Asp)	PLEC (E1924D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252304	NM_201384.3(PLEC):c.9200T>G (p.Ile3067Ser)	PLEC (I1967S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250981	NM_201378.4(PLEC):c.70+14791G>A	PLEC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3250700	NM_201384.3(PLEC):c.6679GAG[2] (p.Glu2229del)	PLEC (E2197del +6 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3245521	NC_000008.10:g.(?_145011127)_(145011430_?)dup	PLEC	Duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 3245520	NC_000008.10:g.(?_144990345)_(145049537_?)dup	MIR661, PLEC	Duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 3245519	NC_000008.10:g.(?_144990345)_(144996583_?)del	PLEC	Deletion	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GPathogenic
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
Select item 3237159	NM_201384.3(PLEC):c.6553G>T (p.Glu2185Ter)	PLEC (E2153* +6 more)	Single nucleotide variant (nonsense +1 more)	Epidermolysis bullosa simplex with nail dystrophy	GPathogenic
Select item 3235064	NM_201378.4(PLEC):c.71-3761del	LOC130001342, PLEC (W21fs)	Deletion (frameshift variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy	GUncertain significance
Select item 3234618	NM_201384.3(PLEC):c.5739G>T (p.Val1913=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234509	NM_201384.3(PLEC):c.6309G>A (p.Glu2103=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3214723	NM_201384.3(PLEC):c.9916A>C (p.Ser3306Arg)	PLEC (S3310R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214722	NM_201384.3(PLEC):c.9596G>C (p.Cys3199Ser)	PLEC (C3185S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214721	NM_201384.3(PLEC):c.9203T>C (p.Ile3068Thr)	PLEC (I1968T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214720	NM_201384.3(PLEC):c.8632G>T (p.Gly2878Cys)	PLEC (G2882C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214718	NM_201384.3(PLEC):c.8368C>G (p.Gln2790Glu)	PLEC (Q2758E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214717	NM_201384.3(PLEC):c.8333A>C (p.Lys2778Thr)	PLEC (K1678T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3214715	NM_201384.3(PLEC):c.7924C>T (p.Pro2642Ser)	PLEC (P2628S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214714	NM_201384.3(PLEC):c.7673G>A (p.Arg2558Gln)	PLEC (R1458Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214713	NM_201384.3(PLEC):c.7265T>C (p.Leu2422Pro)	PLEC (L2559P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3214712	NM_201384.3(PLEC):c.7243G>C (p.Glu2415Gln)	PLEC (E2401Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3214710	NM_201384.3(PLEC):c.623A>G (p.Asn208Ser)	PLEC (N186S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214709	NM_201384.3(PLEC):c.6923C>G (p.Ala2308Gly)	PLEC (A2294G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3214708	NM_201384.3(PLEC):c.6734C>T (p.Ala2245Val)	PLEC (A2231V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3214706	NM_201384.3(PLEC):c.5378C>G (p.Ala1793Gly)	PLEC (A1771G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3214704	NM_201384.3(PLEC):c.4679C>T (p.Ala1560Val)	PLEC (A1587V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3214703	NM_201384.3(PLEC):c.4479G>C (p.Gln1493His)	PLEC (Q1471H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3214701	NM_201384.3(PLEC):c.4048C>G (p.Leu1350Val)	PLEC (L1336V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3214699	NM_201384.3(PLEC):c.3316A>G (p.Arg1106Gly)	PLEC (R1110G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214697	NM_201384.3(PLEC):c.3253C>A (p.Leu1085Met)	PLEC (L1063M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214695	NM_201384.3(PLEC):c.2851C>T (p.Arg951Trp)	PLEC (R929W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214694	NM_201384.3(PLEC):c.2771A>G (p.Gln924Arg)	PLEC (Q1061R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214693	NM_201384.3(PLEC):c.2495G>A (p.Gly832Asp)	PLEC (G800D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214692	NM_201384.3(PLEC):c.2201C>G (p.Ala734Gly)	PLEC (A712G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214691	NM_201384.3(PLEC):c.1570T>C (p.Tyr524His)	PLEC (Y551H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214690	NM_201384.3(PLEC):c.1531G>T (p.Val511Leu)	PLEC (V497L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214687	NM_201384.3(PLEC):c.12430G>C (p.Val4144Leu)	PLEC (V3044L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214686	NM_201384.3(PLEC):c.12122G>A (p.Arg4041His)	PLEC (R4019H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214684	NM_201384.3(PLEC):c.11904G>T (p.Glu3968Asp)	PLEC (E4105D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214683	NM_201384.3(PLEC):c.11674A>G (p.Ile3892Val)	PLEC (I3896V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214680	NM_201384.3(PLEC):c.10536C>G (p.Phe3512Leu)	PLEC (F3480L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214678	NM_201384.3(PLEC):c.10085T>C (p.Leu3362Pro)	PLEC (L2262P +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068704	NM_201384.3(PLEC):c.7885G>A (p.Gly2629Ser)	PLEC (G1529S +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 3064483	NM_201384.3(PLEC):c.2171A>G (p.Tyr724Cys)	PLEC (Y692C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061956	NM_201384.3(PLEC):c.4141C>T (p.Gln1381Ter)	PLEC (Q1349* +6 more)	Single nucleotide variant (nonsense +1 more)	Epidermolysis bullosa simplex with nail dystrophy	GLikely pathogenic

<< First< Prev

Page of 10