gravis a dionychaefolia - ClinVar - NCBI

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The following term was not found in ClinVar: dionychaefolia.
Showing results for graves a dionychaefolia. Search instead for graves a dionychaefolia (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293979	NM_005562.3(LAMC2):c.-89A>G	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +3 more	GBenign
Select item 293982	NM_005562.3(LAMC2):c.-15C>T	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +1 more	GUncertain significance
Select item 293983	NM_005562.3(LAMC2):c.-6C>A	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 293984	NM_005562.3(LAMC2):c.1A>G (p.Met1Val)	LAMC2, LOC126805948 (M1V)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GConflicting classifications of pathogenicity
Select item 550357	NM_005562.3(LAMC2):c.3G>T (p.Met1Ile)	LOC126805948, LAMC2 (M1I)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371173	NM_005562.3(LAMC2):c.80-2A>G	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 370838	NM_005562.3(LAMC2):c.134_137del (p.Arg45fs)	LAMC2 (R45fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371541	NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs)	LAMC2 (F51fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic/Likely pathogenic
Select item 1726932	NM_005562.3(LAMC2):c.176del (p.Asn59fs)	LAMC2 (N59fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 558714	NM_005562.3(LAMC2):c.180dup (p.Asp61Ter)	LAMC2 (D61*)	Duplication (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 2584967	NM_005562.3(LAMC2):c.195C>A (p.Cys65Ter)	LAMC2 (C65*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 984224	NM_005562.3(LAMC2):c.219C>A (p.Tyr73Ter)	LAMC2 (Y73*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726223	NM_005562.3(LAMC2):c.252C>A (p.Cys84Ter)	LAMC2 (C84*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370158	NM_005562.3(LAMC2):c.268+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 259785	NM_005562.3(LAMC2):c.268+14A>G	LAMC2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 14555	NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)	LAMC2 (R95*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic
Select item 984225	NM_005562.3(LAMC2):c.288T>A (p.Cys96Ter)	LAMC2 (C96*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 259787	NM_005562.3(LAMC2):c.297C>T (p.Ser99=)	LAMC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 550884	NM_005562.3(LAMC2):c.301C>T (p.Arg101Trp)	LAMC2 (R101W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 1028397	NM_005562.3(LAMC2):c.343C>T (p.Arg115Ter)	LAMC2 (R115*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic
Select item 293990	NM_005562.3(LAMC2):c.371C>T (p.Thr124Met)	LAMC2 (T124M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 984226	NM_005562.3(LAMC2):c.388C>T (p.Gln130Ter)	LAMC2 (Q130*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1180478	NM_005562.3(LAMC2):c.405-31T>C	LAMC2	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GBenign
Select item 259789	NM_005562.3(LAMC2):c.483C>T (p.Val161=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 370336	NM_005562.3(LAMC2):c.503+1G>C	LAMC2	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 293993	NM_005562.3(LAMC2):c.503+14G>A	LAMC2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 555531	NM_005562.3(LAMC2):c.504-2A>C	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371322	NM_005562.3(LAMC2):c.537del (p.Asn180fs)	LAMC2 (N180fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 370380	NM_005562.3(LAMC2):c.559_560insAA (p.Cys187Ter)	LAMC2 (C187*)	Insertion (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1067977	NM_005562.3(LAMC2):c.640+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 3A, intermediate +3 more	GLikely pathogenic
Select item 554732	NM_005562.3(LAMC2):c.640+2T>A	LAMC2	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1180479	NM_005562.3(LAMC2):c.641-80C>T	LAMC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 556467	NM_005562.3(LAMC2):c.641-2A>G	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1724214	NM_005562.3(LAMC2):c.651_654del (p.Trp218fs)	LAMC2 (W218fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 188791	NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter)	LAMC2 (R223*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 370245	NM_005562.3(LAMC2):c.709C>T (p.Gln237Ter)	LAMC2 (Q237*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 259790	NM_005562.3(LAMC2):c.798T>G (p.Gly266=)	LAMC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1199379	NM_005562.3(LAMC2):c.815A>G (p.Asp272Gly)	LAMC2 (D272G)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 1723917	NM_005562.3(LAMC2):c.825_826insCTGTCTCTTATCATCT (p.Asp276delinsLeuSerLeuIleIleTer)	LAMC2	Insertion (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1725661	NM_005562.3(LAMC2):c.851_852insTGCTGAGTGT (p.His285fs)	LAMC2 (H285fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370082	NM_005562.3(LAMC2):c.877_878del (p.Gly293fs)	LAMC2 (G293fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 290574	NM_005562.3(LAMC2):c.880C>T (p.Leu294=)	LAMC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 558041	NM_005562.3(LAMC2):c.883C>T (p.Arg295Trp)	LAMC2 (R295W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GConflicting classifications of pathogenicity
Select item 290575	NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala)	LAMC2 (T297A)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 1725078	NM_005562.3(LAMC2):c.927T>A (p.Cys309Ter)	LAMC2 (C309*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 555294	NM_005562.3(LAMC2):c.953+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 551543	NM_005562.3(LAMC2):c.954-2A>T	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1725763	NM_005562.3(LAMC2):c.1003G>T (p.Glu335Ter)	LAMC2 (E335*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 14556	NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter)	LAMC2 (Y355*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GPathogenic/Likely pathogenic
Select item 1685921	NM_005562.3(LAMC2):c.1066+1del	LAMC2	Deletion (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GPathogenic
Select item 14554	NM_005562.3(LAMC2):c.1067-1G>A	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GPathogenic
Select item 1726468	NM_005562.3(LAMC2):c.1120_1121insACTGTCTCTTATA (p.Ala374fs)	LAMC2 (A374fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 984227	NM_005562.3(LAMC2):c.1179C>A (p.Cys393Ter)	LAMC2 (C393*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 550224	NM_005562.3(LAMC2):c.1257del (p.Gly421fs)	LAMC2 (G421fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726963	NM_005562.3(LAMC2):c.1326_1327insAGAATGTCAAA (p.Ala443fs)	LAMC2 (A443fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1725241	NM_005562.3(LAMC2):c.1347del (p.Tyr450fs)	LAMC2 (Y450fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 984228	NM_005562.3(LAMC2):c.1412C>G (p.Ser471Ter)	LAMC2 (S471*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 552541	NM_005562.3(LAMC2):c.1468+1del	LAMC2	Deletion (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 558444	NM_005562.3(LAMC2):c.1468+1G>T	LAMC2	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1726495	NM_005562.3(LAMC2):c.1469_1470insACTGTCTCTTATACACA (p.Ala491fs)	LAMC2 (A491fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 983661	NM_005562.3(LAMC2):c.1552C>T (p.Gln518Ter)	LAMC2 (Q518*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 294005	NM_005562.3(LAMC2):c.1637C>A (p.Ala546Asp)	LAMC2 (A546D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 557095	NM_005562.3(LAMC2):c.1714+2T>C	LAMC2	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 554739	NM_005562.3(LAMC2):c.1715-1G>A	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371549	NM_005562.3(LAMC2):c.1715-1G>C	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 1724609	NM_005562.3(LAMC2):c.1720delinsTT (p.Asn574fs)	LAMC2 (N574fs)	Indel (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 550635	NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs)	LAMC2 (K594fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 983662	NM_005562.3(LAMC2):c.1786G>T (p.Gly596Ter)	LAMC2 (G596*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1724023	NM_005562.3(LAMC2):c.1796del (p.Gly599fs)	LAMC2 (G599fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370436	NM_005562.3(LAMC2):c.1858-1G>A	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 287517	NM_005562.3(LAMC2):c.1899G>C (p.Leu633=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2627667	NM_005562.3(LAMC2):c.1904C>G (p.Ser635Ter)	LAMC2 (S635*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726016	NM_005562.3(LAMC2):c.1907del (p.Lys636fs)	LAMC2 (K636fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370537	NM_005562.3(LAMC2):c.1970_1971del (p.Glu657fs)	LAMC2 (E657fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371316	NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs)	LAMC2 (I669fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550275	NM_005562.3(LAMC2):c.2014+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 259784	NM_005562.3(LAMC2):c.2198G>C (p.Ser733Thr)	LAMC2 (S733T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1726074	NM_005562.3(LAMC2):c.2213dup (p.Asn739fs)	LAMC2 (N739fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 553679	NM_005562.3(LAMC2):c.2220+2T>G	LAMC2	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1723936	NM_005562.3(LAMC2):c.2234C>G (p.Ser745Ter)	LAMC2 (S745*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1199378	NM_005562.3(LAMC2):c.2278G>A (p.Glu760Lys)	LAMC2 (E760K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GUncertain significance
Select item 371486	NM_005562.3(LAMC2):c.2348del (p.Glu783fs)	LAMC2 (E783fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726125	NM_005562.3(LAMC2):c.2362dup (p.Gln788fs)	LAMC2 (Q788fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1725368	NM_005562.3(LAMC2):c.2372C>A (p.Ser791Ter)	LAMC2 (S791*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370298	NM_005562.3(LAMC2):c.2389_2392del (p.Leu797fs)	LAMC2 (L797fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 557317	NM_005562.3(LAMC2):c.2413_2421del (p.Ser805_Ser807del)	LAMC2	Deletion (inframe_deletion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 553476	NM_005562.3(LAMC2):c.2418_2425dup (p.Asp809fs)	LAMC2 (D809fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 554143	NM_005562.3(LAMC2):c.2456+1G>C	LAMC2	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 551154	NM_005562.3(LAMC2):c.2456+2dup	LAMC2	Duplication (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 1724731	NM_005562.3(LAMC2):c.2470A>T (p.Lys824Ter)	LAMC2 (K824*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370734	NM_005562.3(LAMC2):c.2541_2542del (p.His847fs)	LAMC2 (H847fs)	Microsatellite (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1724004	NM_005562.3(LAMC2):c.2578G>T (p.Gly860Ter)	LAMC2 (G860*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 69044	NM_005562.3(LAMC2):c.2590C>T (p.Gln864Ter)	LAMC2 (Q864*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 557469	NM_005562.3(LAMC2):c.2602-1G>C	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1726076	NM_005562.3(LAMC2):c.2631dup (p.Ala878fs)	LAMC2 (A878fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 259786	NM_005562.3(LAMC2):c.2688G>A (p.Gln896=)	LAMC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1726903	NM_005562.3(LAMC2):c.2706G>A (p.Trp902Ter)	LAMC2 (W902*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 551703	NM_005562.3(LAMC2):c.2708AAG[2] (p.Glu905del)	LAMC2 (E905del)	Microsatellite (inframe_deletion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 983663	NM_005562.3(LAMC2):c.2713G>T (p.Glu905Ter)	LAMC2 (E905*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 983664	NM_005562.3(LAMC2):c.2719C>T (p.Gln907Ter)	LAMC2 (Q907*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic

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