C5676875[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1179120	NM_000210.4(ITGA6):c.915del (p.His305fs)	ITGA6 (H186fs +1 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 591792	NM_000210.4(ITGA6):c.985G>A (p.Gly329Arg)	ITGA6 (G329R +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +1 more	GUncertain significance
Select item 893155	NM_000210.4(ITGA6):c.986+14A>C	ITGA6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 894197	NM_000210.4(ITGA6):c.1517C>T (p.Thr506Ile)	ITGA6 (T387I +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 894199	NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr)	ITGA6, PDK1-AS1 (I498T +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +3 more	GConflicting classifications of pathogenicity
Select item 332367	NM_000210.4(ITGA6):c.1969A>G (p.Ile657Val)	ITGA6, PDK1-AS1 (I657V +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GUncertain significance
Select item 332372	NM_000210.4(ITGA6):c.2245-3del	ITGA6, PDK1-AS1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 722316	NM_000210.4(ITGA6):c.2538C>T (p.Leu846=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +2 more	GBenign/Likely benign
Select item 332377	NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp)	ITGA6, PDK1-AS1 (R902W +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GBenign/Likely benign
Select item 332380	NM_000210.4(ITGA6):c.2792A>G (p.Asn931Ser)	ITGA6, PDK1-AS1 (N931S +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 332382	NM_000210.4(ITGA6):c.2820G>A (p.Pro940=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 332384	NM_000210.4(ITGA6):c.2861C>T (p.Ser954Leu)	ITGA6, PDK1-AS1 (S954L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332386	NM_000210.4(ITGA6):c.2989-6C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 332390	NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia +2 more	GBenign/Likely benign
Select item 894229	NM_000210.4(ITGA6):c.*58T>C	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia +2 more	GBenign
Select item 225394	NM_000210.4(ITGA6):c.*142dup	ITGA6, PDK1-AS1 (Q1064fs +1 more)	Duplication (3 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 436328	NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)	PLEC (T4384M +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +8 more	GConflicting classifications of pathogenicity
Select item 93031	NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GBenign/Likely benign
Select item 960701	NM_201384.3(PLEC):c.12367_12369del (p.Glu4123del)	PLEC (E4091del +6 more)	Deletion (inframe_deletion)	Epidermolysis bullosa simplex, Ogna type +5 more	GUncertain significance
Select item 256169	NM_201384.3(PLEC):c.12360G>A (p.Pro4120=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex, Ogna type +7 more	GBenign/Likely benign
Select item 196848	NM_201384.3(PLEC):c.11066C>T (p.Thr3689Met)	PLEC (T3657M +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 501448	NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln)	PLEC (R3569Q +6 more)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 965583	NM_201384.3(PLEC):c.10741G>A (p.Gly3581Ser)	PLEC (G3559S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 497013	NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)	PLEC (A3104T +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 471673	NM_201384.3(PLEC):c.9380G>A (p.Arg3127Gln)	PLEC (R3105Q +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GUncertain significance
Select item 281481	NM_201384.3(PLEC):c.9351C>T (p.Phe3117=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +7 more	GBenign/Likely benign
Select item 282308	NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met)	PLEC (T2912M +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GUncertain significance
Select item 471666	NM_201384.3(PLEC):c.8630C>T (p.Thr2877Met)	PLEC (T2855M +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GUncertain significance
Select item 256179	NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys)	PLEC (Y2798C +6 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 93086	NM_201384.3(PLEC):c.8445T>C (p.Val2815=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 129956	NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)	PLEC (R2639Q +6 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 471651	NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp)	PLEC (R2543W +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance
Select item 93075	NM_201384.3(PLEC):c.6577C>T (p.Leu2193=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GBenign/Likely benign
Select item 196741	NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val)	PLEC (A2072V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +7 more	GBenign/Likely benign
Select item 196754	NM_201384.3(PLEC):c.6083C>T (p.Ala2028Val)	PLEC (A1996V +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +7 more	GUncertain significance
Select item 93070	NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 538982	NM_201384.3(PLEC):c.6064C>T (p.Arg2022Trp)	PLEC (R2026W +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 1515425	NM_201384.3(PLEC):c.5482C>T (p.Arg1828Trp)	PLEC (R1806W +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GUncertain significance
Select item 93063	NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln)	PLEC (R1794Q +6 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 196767	NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val)	PLEC (A1740V +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +7 more	GUncertain significance
Select item 290697	NM_201384.3(PLEC):c.5248C>T (p.Arg1750Trp)	PLEC (R1718W +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1029850	NM_201384.3(PLEC):c.4889A>G (p.Glu1630Gly)	PLEC (E1634G +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GUncertain significance
Select item 93054	NM_201384.3(PLEC):c.4557G>A (p.Ser1519=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GBenign/Likely benign
Select item 196762	NM_201384.3(PLEC):c.4526G>A (p.Arg1509His)	PLEC (R1477H +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +7 more	GUncertain significance
Select item 471590	NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln)	PLEC (R1478Q +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance
Select item 471588	NM_201384.3(PLEC):c.4373G>T (p.Arg1458Leu)	PLEC (R1436L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GUncertain significance
Select item 385506	NM_201384.3(PLEC):c.4044+16C>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign/Likely benign
Select item 195856	NM_201384.3(PLEC):c.2961C>T (p.Ser987=)	PLEC	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 1448040	NM_201384.3(PLEC):c.2742C>A (p.Phe914Leu)	PLEC (F1051L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GUncertain significance
Select item 662298	NM_201384.3(PLEC):c.2719C>T (p.Arg907Cys)	PLEC (R907C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +6 more	GUncertain significance
Select item 195655	NM_201384.3(PLEC):c.2497C>T (p.Pro833Ser)	PLEC (P801S +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +7 more	GUncertain significance
Select item 471546	NM_201384.3(PLEC):c.1438C>T (p.Arg480Cys)	PLEC (R458C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance
Select item 385141	NM_201384.3(PLEC):c.801C>T (p.Asp267=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +7 more	GBenign/Likely benign
Select item 448073	NM_201384.3(PLEC):c.58A>G (p.Ser20Gly)	LOC130001338, PLEC (S20G)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +6 more	GBenign/Likely benign
Select item 1204425	NM_201378.4(PLEC):c.71-11512C>T	PLEC (P168L)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +7 more	GBenign/Likely benign
Select item 14734	NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)	ITGB4 (C61Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 734244	NM_000213.5(ITGB4):c.309C>A (p.Pro103=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 890397	NM_000213.5(ITGB4):c.346C>T (p.Arg116Trp)	ITGB4 (R116W)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GUncertain significance
Select item 715088	NM_000213.5(ITGB4):c.387C>T (p.Pro129=)	ITGB4	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GLikely benign
Select item 1049472	NM_000213.5(ITGB4):c.469+5G>A	ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 729288	NM_000213.5(ITGB4):c.495C>T (p.Ser165=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1522263	NM_000213.5(ITGB4):c.502A>G (p.Thr168Ala)	ITGB4 (T168A)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GConflicting classifications of pathogenicity
Select item 325123	NM_000213.5(ITGB4):c.513T>C (p.Phe171=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 890399	NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu)	ITGB4 (D230E)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 325126	NM_000213.5(ITGB4):c.738+3G>A	ITGB4	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 325135	NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp)	ITGB4 (R401W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1600677	NM_000213.5(ITGB4):c.1215+19A>G	ITGB4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 736091	NM_000213.5(ITGB4):c.1281G>A (p.Pro427=)	ITGB4	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GLikely benign
Select item 1522264	NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val)	ITGB4 (A448V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +3 more	GConflicting classifications of pathogenicity
Select item 888755	NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser)	ITGB4 (G449S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 750273	NM_000213.5(ITGB4):c.1911G>A (p.Ala637=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GLikely benign
Select item 736092	NM_000213.5(ITGB4):c.2070C>T (p.Gly690=)	ITGB4	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GLikely benign
Select item 325160	NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu)	ITGB4 (P708L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888847	NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr)	ITGB4 (P835T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 325163	NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala)	ITGB4 (P835A)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1592548	NM_000213.5(ITGB4):c.2577C>T (p.Ser859=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 325166	NM_000213.5(ITGB4):c.2674C>T (p.Arg892Cys)	ITGB4 (R892C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GUncertain significance
Select item 891108	NM_000213.5(ITGB4):c.2755G>A (p.Gly919Ser)	ITGB4 (G919S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 803465	NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln)	ITGB4 (R945Q)	Single nucleotide variant (missense variant)	ITGB4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 736093	NM_000213.5(ITGB4):c.2962+9G>C	ITGB4	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GLikely benign
Select item 325173	NM_000213.5(ITGB4):c.2962+14G>A	ITGB4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1629220	NM_000213.5(ITGB4):c.2963-13G>A	ITGB4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 325174	NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 888918	NM_000213.5(ITGB4):c.3112-3C>T	ITGB4	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 5A, intermediate +3 more	GConflicting classifications of pathogenicity
Select item 325175	NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln)	ITGB4 (R1072Q)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 1348122	NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)	ITGB4 (R1074H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 325178	NM_000213.5(ITGB4):c.3317A>G (p.Asp1106Gly)	ITGB4 (D1106G)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 1048067	NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs)	ITGB4 (D1109fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GPathogenic
Select item 735189	NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)	ITGB4 (I1143V)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 1410417	NM_000213.5(ITGB4):c.3571G>A (p.Asp1191Asn)	ITGB4 (D1191N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 749786	NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GLikely benign
Select item 1439340	NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg)	GALK1, ITGB4 (G1340R)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 892369	NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His)	GALK1, ITGB4 (R1355H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 888974	NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr)	GALK1, ITGB4 (A1468T +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 777221	NM_000213.5(ITGB4):c.4417C>T (p.Leu1473=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 817024	NM_000213.5(ITGB4):c.4635_4636del (p.Arg1545fs)	GALK1, ITGB4 (R1475fs +2 more)	Microsatellite (frameshift variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GPathogenic/Likely pathogenic
Select item 889660	NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu)	GALK1, ITGB4 (P1481L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1173102	NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln)	GALK1, ITGB4 (R1485Q +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GUncertain significance
Select item 325199	NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 1211557	NM_000213.5(ITGB4):c.4709-8C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity

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