C2677349[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436328	NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)	PLEC (T4384M +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +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 with nail dystrophy +6 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 5B, with muscular dystrophy +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 5C, with pyloric atresia +6 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)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +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)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +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 5B, with muscular 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 with nail dystrophy +5 more	GUncertain significance
Select item 281481	NM_201384.3(PLEC):c.9351C>T (p.Phe3117=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +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 with nail 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)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GBenign/Likely benign
Select item 93086	NM_201384.3(PLEC):c.8445T>C (p.Val2815=)	PLEC	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex with nail dystrophy +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)	not provided +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 with nail dystrophy +6 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)	not specified +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)	Junctional epidermolysis bullosa with pyloric atresia +7 more	GUncertain significance
Select item 93070	NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)	PLEC	Single nucleotide variant (synonymous variant)	not specified +8 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 5B, with muscular 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)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +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 specified +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)	Junctional epidermolysis bullosa with pyloric atresia +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)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +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 with nail dystrophy +6 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 5C, with pyloric atresia +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 5C, with pyloric atresia +6 more	GUncertain significance
Select item 385506	NM_201384.3(PLEC):c.4044+16C>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more	GBenign/Likely benign
Select item 195856	NM_201384.3(PLEC):c.2961C>T (p.Ser987=)	PLEC	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +8 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 5B, with muscular dystrophy +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)	not provided +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)	Junctional epidermolysis bullosa with pyloric atresia +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 with nail 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 +7 more	GBenign/Likely benign
Select item 1204425	NM_201378.4(PLEC):c.71-11512C>T	PLEC (P168L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +7 more	GBenign/Likely benign

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Items: 39