C0079683[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 558714	NM_005562.3(LAMC2):c.180dup (p.Asp61Ter)	LAMC2 (D61*)	Duplication (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 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 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 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 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 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 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 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 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 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 550224	NM_005562.3(LAMC2):c.1257del (p.Gly421fs)	LAMC2 (G421fs)	Deletion (frameshift variant)	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 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 550635	NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs)	LAMC2 (K594fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely 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 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 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 371486	NM_005562.3(LAMC2):c.2348del (p.Glu783fs)	LAMC2 (E783fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 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 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 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 556962	NM_005562.3(LAMC2):c.2755-2A>G	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371006	NM_005562.3(LAMC2):c.2929_2930del (p.Ser977fs)	LAMC2 (S977fs)	Microsatellite (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 550876	NM_005562.3(LAMC2):c.2944_2946del (p.Lys982del)	LAMC2 (K982del)	Deletion (inframe_deletion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 551994	NM_005562.3(LAMC2):c.3069+1G>C	LAMC2	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371294	NM_005562.3(LAMC2):c.3147dup (p.Lys1050fs)	LAMC2 (K1050fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 552372	NM_005562.3(LAMC2):c.3223_3224del (p.Gln1075fs)	LAMC2 (Q1075fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 550524	NM_005562.3(LAMC2):c.3328+8AACCCAC[3]	LAMC2	Microsatellite (no sequence alteration +1 more)	not provided +1 more	GLikely benign
Select item 553193	NM_005562.3(LAMC2):c.3328+19_3328+25del	LAMC2	Microsatellite (no sequence alteration +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely benign
Select item 552793	NM_005562.3(LAMC2):c.3329-2A>G	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370421	NM_005562.3(LAMC2):c.3357del (p.Leu1120fs)	LAMC2 (L1120fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552383	NM_005562.3(LAMC2):c.3375_3394del (p.Gln1125fs)	LAMC2 (Q1125fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370953	NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)	LAMC2 (R1129*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 552649	NM_005562.3(LAMC2):c.3411del (p.Gln1137fs)	LAMC2 (Q1137fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370323	NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?)	LAMB3	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 295064	NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile)	LAMB3 (T1110I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 553234	NM_000228.3(LAMB3):c.3250_3251del (p.Lys1084fs)	LAMB3 (K1084fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370778	NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)	LAMB3 (W1040*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551418	NM_000228.3(LAMB3):c.3052-1G>A	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370774	NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter)	LAMB3 (Q1012*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370321	NM_000228.3(LAMB3):c.3024del (p.Arg1009fs)	LAMB3 (R1009fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 295073	NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser)	LAMB3 (G1003S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +1 more	GUncertain significance
Select item 550265	NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)	LAMB3 (R988W)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 556000	NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly)	LAMB3 (D982G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 553110	NM_000228.3(LAMB3):c.2864_2890del (p.Asp955_Gln963del)	LAMB3	Deletion (inframe_deletion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 372403	NM_000228.3(LAMB3):c.2842del (p.Val948fs)	LAMB3 (V948fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GPathogenic
Select item 553136	NM_000228.3(LAMB3):c.2701+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 556303	NM_000228.3(LAMB3):c.2556+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 553294	NM_000228.3(LAMB3):c.2516del (p.Leu839fs)	LAMB3 (L839fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 551346	NM_000228.3(LAMB3):c.2396dup (p.Ser800fs)	LAMB3 (S800fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 549907	NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs)	LAMB3 (C788fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370879	NM_000228.3(LAMB3):c.2358+2T>C	LAMB3, MIR4260	Single nucleotide variant (non-coding transcript variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 370435	NM_000228.3(LAMB3):c.2346del (p.Thr783fs)	LAMB3 (T783fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280743	NM_000228.3(LAMB3):c.2288del (p.Gly763fs)	LAMB3 (G763fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552832	NM_000228.3(LAMB3):c.2271AGG[6] (p.Gly760_Gly761dup)	LAMB3	Microsatellite (inframe_insertion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 550996	NM_000228.3(LAMB3):c.2271AGG[5] (p.Gly761dup)	LAMB3	Microsatellite (inframe_insertion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 550865	NM_000228.3(LAMB3):c.2182del (p.Ala728fs)	LAMB3 (A728fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 371355	NM_000228.3(LAMB3):c.2170C>T (p.Gln724Ter)	LAMB3 (Q724*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 553408	NM_000228.2(LAMB3):c.2138_2140delGAG	LAMB3	Deletion	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 552357	NM_000228.3(LAMB3):c.2137+37G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely benign
Select item 558689	NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer)	LAMB3	Deletion (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 552193	NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu)	LAMB3 (P679L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 550099	NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del)	LAMB3 (L676del)	Deletion (inframe_deletion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 370862	NM_000228.3(LAMB3):c.2011del (p.Leu671fs)	LAMB3 (L671fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 189034	NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)	LAMB3 (R660*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic
Select item 14545	NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter)	LAMB3 (W610*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic
Select item 370083	NM_000228.3(LAMB3):c.1823dup (p.Ser608fs)	LAMB3 (S608fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188764	NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	LAMB3 (R569*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GPathogenic/Likely pathogenic
Select item 556337	NM_000228.3(LAMB3):c.1597+1G>T	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 14548	NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)	LAMB3 (G530fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic
Select item 558343	NM_000228.3(LAMB3):c.1486-1G>A	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa +2 more	GLikely pathogenic
Select item 554635	NM_000228.3(LAMB3):c.1459_1461dup (p.Asn487dup)	LAMB3	Duplication (inframe_insertion)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 189004	NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)	LAMB3 (N456fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GPathogenic/Likely pathogenic
Select item 557906	NM_000228.3(LAMB3):c.1283_1288+14del	LAMB3	Deletion (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 554569	NM_000228.3(LAMB3):c.1288+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 551396	NM_000228.3(LAMB3):c.1288+1G>T	LAMB3	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic

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