C3279875[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279830	NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg)	LAMC3 (Q97R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 418860	NM_006059.4(LAMC3):c.538C>T (p.Arg180Cys)	LAMC3 (R180C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 378065	NM_006059.4(LAMC3):c.558C>T (p.Arg186=)	LAMC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1464952	NM_006059.4(LAMC3):c.809+2_809+8del	LAMC3	Deletion (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 30416	NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer)	LAMC3	Microsatellite (nonsense)	Occipital pachygyria and polymicrogyria	GLikely pathogenic
Select item 30419	NM_006059.4(LAMC3):c.1048G>A (p.Gly350Arg)	LAMC3 (G350R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1668128	NM_006059.4(LAMC3):c.1103A>G (p.Gln368Arg)	LAMC3 (Q368R)	Single nucleotide variant (missense variant)	Occipital pachygyria and polymicrogyria +1 more	GLikely benign
Select item 1486303	NM_006059.4(LAMC3):c.1217C>T (p.Thr406Met)	LAMC3 (T406M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1425035	NM_006059.4(LAMC3):c.1241G>A (p.Arg414His)	LAMC3 (R414H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1668575	NM_006059.4(LAMC3):c.1524C>T (p.Ala508=)	LAMC3	Single nucleotide variant (synonymous variant)	Occipital pachygyria and polymicrogyria +1 more	GLikely benign
Select item 211360	NM_006059.4(LAMC3):c.1907G>A (p.Arg636His)	LAMC3 (R636H)	Single nucleotide variant (missense variant)	Occipital pachygyria and polymicrogyria +2 more	GUncertain significance
Select item 784650	NM_006059.4(LAMC3):c.1940-9G>A	LAMC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 194074	NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)	LAMC3 (P689L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 786579	NM_006059.4(LAMC3):c.2096G>A (p.Gly699Asp)	LAMC3 (G699D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 129461	NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe)	LAMC3 (S1124F)	Single nucleotide variant (missense variant)	Occipital pachygyria and polymicrogyria +1 more	GBenign
Select item 1593244	NM_006059.4(LAMC3):c.3486C>T (p.Leu1162=)	LAMC3	Single nucleotide variant (synonymous variant)	Occipital pachygyria and polymicrogyria +1 more	GLikely benign
Select item 1359393	NM_006059.4(LAMC3):c.3487G>A (p.Ala1163Thr)	LAMC3 (A1163T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 392321	NM_006059.4(LAMC3):c.3499A>G (p.Arg1167Gly)	LAMC3 (R1167G)	Single nucleotide variant (missense variant)	Occipital pachygyria and polymicrogyria +1 more	GUncertain significance
Select item 430486	NM_006059.4(LAMC3):c.3674T>C (p.Val1225Ala)	LAMC3 (V1225A)	Single nucleotide variant (missense variant)	Occipital pachygyria and polymicrogyria +2 more	GConflicting classifications of pathogenicity
Select item 1371107	NM_006059.4(LAMC3):c.4093G>A (p.Val1365Ile)	LAMC3 (V1365I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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Items: 20