ClinVar for Gene (Select 5339) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3054506	NM_201378.4(PLEC):c.71-5077G>A	PLEC	Single nucleotide variant (intron variant)	PLEC-related condition	GLikely benign
Select item 3054344	NM_201384.3(PLEC):c.4056G>A (p.Glu1352=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related condition	GLikely benign
Select item 3054175	NM_201378.4(PLEC):c.71-3711_71-3650del	LOC130001342, PLEC	Deletion (intron variant +1 more)	PLEC-related condition	GLikely benign
Select item 3050580	NM_201384.3(PLEC):c.5238C>T (p.Ala1746=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related condition	GLikely benign
Select item 3050144	NM_201384.3(PLEC):c.12616G>A (p.Asp4206Asn)	PLEC (D3106N +7 more)	Single nucleotide variant (missense variant)	PLEC-related condition	GUncertain significance
Select item 3049711	NM_201384.3(PLEC):c.10707G>A (p.Glu3569=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition	GLikely benign
Select item 3048554	NM_201378.4(PLEC):c.71-5980C>T	PLEC	Single nucleotide variant (5 prime UTR variant +1 more)	PLEC-related condition	GLikely benign
Select item 3048033	NM_201378.4(PLEC):c.71-3729G>C	LOC130001342, PLEC (G32A)	Single nucleotide variant (missense variant +1 more)	PLEC-related condition	GLikely benign
Select item 3047857	NM_201384.3(PLEC):c.11964G>A (p.Glu3988=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition	GLikely benign
Select item 3044086	NM_201378.4(PLEC):c.71-3818G>A	LOC130001342, PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related condition	GLikely benign
Select item 3043945	NM_201384.3(PLEC):c.11265C>T (p.Pro3755=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition	GLikely benign
Select item 3041428	NM_201378.4(PLEC):c.71-3737C>T	LOC130001342, PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related condition	GLikely benign
Select item 3039342	NM_201384.3(PLEC):c.5457G>A (p.Leu1819=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related condition	GLikely benign
Select item 3038956	NM_201378.4(PLEC):c.71-5083A>C	PLEC	Single nucleotide variant (intron variant)	PLEC-related condition	GLikely benign
Select item 3038196	NM_201384.3(PLEC):c.7803G>C (p.Leu2601=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition	GLikely benign
Select item 3033104	NM_201384.3(PLEC):c.489G>A (p.Lys163=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition	GLikely benign
Select item 3030851	NM_201384.3(PLEC):c.1908G>A (p.Glu636=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition	GLikely benign
Select item 3030808	NM_201384.3(PLEC):c.12426C>G (p.Val4142=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition	GLikely benign
Select item 3030377	NM_201384.3(PLEC):c.10320C>T (p.Tyr3440=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition	GLikely benign
Select item 3029881	NM_201378.4(PLEC):c.71-11815G>A	PLEC (W67*)	Single nucleotide variant (nonsense +1 more)	PLEC-related condition	GLikely benign
Select item 3029653	NM_201378.4(PLEC):c.71-5203C>T	PLEC	Single nucleotide variant (5 prime UTR variant +1 more)	PLEC-related condition	GLikely benign
Select item 3029362	NM_201384.3(PLEC):c.1980G>T (p.Ala660=)	PLEC	Single nucleotide variant (synonymous variant)	PLEC-related condition	GLikely benign
Select item 3028931	NM_201378.4(PLEC):c.71-11616G>A	PLEC	Single nucleotide variant (synonymous variant +1 more)	PLEC-related condition	GLikely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	LY6E, LY6H +173 more	Copy number gain	not provided	GPathogenic
Select item 2954507	NM_201384.3(PLEC):c.1355T>C (p.Leu452Pro)	PLEC (L589P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 2954407	NM_201384.3(PLEC):c.3759C>A (p.Ala1253=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 2954290	NM_201384.3(PLEC):c.6176A>G (p.Gln2059Arg)	PLEC (Q2037R +6 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 2954112	NM_201384.3(PLEC):c.6783T>C (p.Asn2261=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 2953883	NM_201384.3(PLEC):c.10180G>C (p.Ala3394Pro)	PLEC (A3362P +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 2953835	NM_201384.3(PLEC):c.2613-13C>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 2953819	NM_201384.3(PLEC):c.3260+13G>A	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GLikely benign
Select item 2953681	NM_201384.3(PLEC):c.8882C>T (p.Thr2961Met)	PLEC (T2947M +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 2953657	NM_201384.3(PLEC):c.11171T>C (p.Leu3724Pro)	PLEC (L2624P +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 2953627	NM_201384.3(PLEC):c.8056G>A (p.Glu2686Lys)	PLEC (E2654K +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 2953303	NM_201384.3(PLEC):c.762C>T (p.Tyr254=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2953284	NM_201384.3(PLEC):c.13228G>A (p.Glu4410Lys)	PLEC (E3310K +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2953263	NM_201384.3(PLEC):c.2955C>T (p.Cys985=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2953246	NM_201384.3(PLEC):c.10111A>G (p.Ile3371Val)	PLEC (I2271V +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2953176	NM_201384.3(PLEC):c.3322C>A (p.His1108Asn)	PLEC (H1076N +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2953062	NM_201384.3(PLEC):c.10702G>T (p.Glu3568Ter)	PLEC (E3572* +7 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GPathogenic
Select item 2952915	NM_201384.3(PLEC):c.2250T>A (p.Ser750Arg)	PLEC (S718R +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952888	NM_201384.3(PLEC):c.3959G>T (p.Arg1320Leu)	PLEC (R1324L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952863	NM_201384.3(PLEC):c.7336G>A (p.Glu2446Lys)	PLEC (E2424K +6 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952835	NM_201384.3(PLEC):c.11027C>A (p.Ala3676Asp)	PLEC (A2576D +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952663	NM_201384.3(PLEC):c.13565A>C (p.Tyr4522Ser)	PLEC (Y4508S +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952633	NM_201384.3(PLEC):c.808G>A (p.Asp270Asn)	PLEC (D238N +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952619	NM_201384.3(PLEC):c.8901G>A (p.Glu2967=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2952564	NM_201384.3(PLEC):c.11187dup (p.Thr3730fs)	PLEC (T2630fs +7 more)	Duplication (frameshift variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GPathogenic
Select item 2952478	NM_201384.3(PLEC):c.8673C>A (p.Gly2891=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2952162	NM_201384.3(PLEC):c.7862C>G (p.Ala2621Gly)	PLEC (A2625G +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952154	NM_201384.3(PLEC):c.3366C>T (p.Leu1122=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2952145	NM_201384.3(PLEC):c.12227T>C (p.Met4076Thr)	PLEC (M4062T +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952142	NM_201384.3(PLEC):c.5399C>T (p.Ala1800Val)	PLEC (A1768V +6 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952131	NM_201384.3(PLEC):c.9229A>T (p.Thr3077Ser)	PLEC (T3045S +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2952090	NM_201384.3(PLEC):c.1155C>A (p.Arg385=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2952086	NM_201384.3(PLEC):c.6754C>G (p.Arg2252Gly)	PLEC (R2252G +6 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2951984	NM_201384.3(PLEC):c.4569CGAGGC[3] (p.Ala1527_Ala1528insGluAla)	PLEC	Microsatellite (inframe_insertion +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2951894	NM_201384.3(PLEC):c.5265C>T (p.Ala1755=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2951853	NM_201384.3(PLEC):c.3833C>T (p.Ala1278Val)	PLEC (A1282V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2951775	NM_201384.3(PLEC):c.7858G>A (p.Val2620Met)	PLEC (V2588M +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2951730	NM_201384.3(PLEC):c.7380G>A (p.Glu2460=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2951563	NM_201384.3(PLEC):c.1037T>C (p.Leu346Pro)	PLEC (L324P +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2951561	NM_201378.4(PLEC):c.70+16C>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2951486	NM_201378.4(PLEC):c.5C>T (p.Ala2Val)	PLEC (A2V)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2951458	NM_201384.3(PLEC):c.3946-13C>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2951091	NM_201384.3(PLEC):c.9510C>A (p.Ala3170=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2951026	NM_201384.3(PLEC):c.2373C>T (p.Val791=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2950793	NM_201384.3(PLEC):c.927C>T (p.Ser309=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2950733	NM_201384.3(PLEC):c.5835G>A (p.Glu1945=)	PLEC	Single nucleotide variant (intron variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2950627	NM_201384.3(PLEC):c.6213G>A (p.Gln2071=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2950497	NM_201384.3(PLEC):c.719-13C>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2950427	NM_201384.3(PLEC):c.12123C>A (p.Arg4041=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2950004	NM_201384.3(PLEC):c.3147G>C (p.Lys1049Asn)	PLEC (K1035N +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2949944	NM_201384.3(PLEC):c.11556C>T (p.Asp3852=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2949938	NM_201384.3(PLEC):c.4131G>C (p.Glu1377Asp)	PLEC (E1345D +6 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2949915	NM_201384.3(PLEC):c.12116G>A (p.Gly4039Asp)	PLEC (G4017D +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2949724	NM_201384.3(PLEC):c.573C>T (p.Arg191=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2949722	NM_201384.3(PLEC):c.9372C>T (p.Leu3124=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2949676	NM_201384.3(PLEC):c.2613-13C>G	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2949456	NM_201384.3(PLEC):c.13608G>A (p.Ser4536=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2949340	NM_201384.3(PLEC):c.8146C>A (p.Leu2716Met)	PLEC (L2684M +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2949316	NM_201384.3(PLEC):c.1108T>C (p.Trp370Arg)	PLEC (W356R +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2949315	NM_201384.3(PLEC):c.2623C>T (p.Gln875Ter)	PLEC (Q861* +6 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GPathogenic
Select item 2949246	NM_201384.3(PLEC):c.6126C>A (p.Ala2042=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2949224	NM_201384.3(PLEC):c.2962G>A (p.Glu988Lys)	PLEC (E966K +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2949164	NM_201384.3(PLEC):c.9429C>G (p.Ile3143Met)	PLEC (I3143M +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2949123	NM_201384.3(PLEC):c.11758G>A (p.Glu3920Lys)	PLEC (E3888K +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2949121	NM_000445.5(PLEC):c.108G>A (p.Thr36=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2949116	NM_201384.3(PLEC):c.10324G>A (p.Gly3442Ser)	PLEC (G2342S +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2948983	NM_201384.3(PLEC):c.436-17_436-15del	PLEC	Microsatellite (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2948949	NM_201384.3(PLEC):c.11262G>T (p.Gly3754=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2948906	NM_201384.3(PLEC):c.9043A>G (p.Thr3015Ala)	PLEC (T2993A +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2948869	NM_201384.3(PLEC):c.2073C>T (p.Pro691=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GLikely benign
Select item 2948741	NM_201384.3(PLEC):c.2612+5G>C	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 2948717	NM_201384.3(PLEC):c.4253T>G (p.Ile1418Ser)	PLEC (I1396S +6 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance

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