CN239479[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331397	NM_001164508.2(NEB):c.264_265del	NEB, RIF1	Deletion (3 prime UTR variant)	Nemaline Myopathy, Recessive	GLikely benign
Select item 95112	NM_001164508.2(NEB):c.21418-6del	NEB, RIF1	Deletion (intron variant)	not specified +3 more	GBenign
Select item 331433	NM_001164508.2(NEB):c.20467-6_20467-4dup	NEB	Duplication (intron variant)	Nemaline Myopathy, Recessive	GUncertain significance
Select item 331432	NM_001164508.2(NEB):c.20467-5_20467-4dup	NEB	Duplication (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 331431	NM_001164508.2(NEB):c.20467-4dup	NEB	Duplication (intron variant)	Nemaline Myopathy, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 331448	NM_001164508.2(NEB):c.19428+8_19428+9insA	NEB	Insertion (intron variant)	Nemaline Myopathy, Recessive	GUncertain significance
Select item 331464	NM_001164508.2(NEB):c.17635-4_17635-3dup	NEB	Duplication (intron variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 331463	NM_001164508.2(NEB):c.17635-3dup	NEB	Duplication (intron variant)	Nemaline Myopathy, Recessive +1 more	GBenign
Select item 198959	NM_001164508.2(NEB):c.17635-3del	NEB	Deletion (intron variant)	Nemaline Myopathy, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 331467	NM_001164508.2(NEB):c.17193G>A (p.Lys5731=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline Myopathy, Recessive	GUncertain significance
Select item 95132	NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)	NEB (K1550R)	Single nucleotide variant (missense variant)	NEB-related condition +3 more	GConflicting classifications of pathogenicity
Select item 331539	NM_001164508.2(NEB):c.780A>G (p.Pro260=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline Myopathy, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 313077	NM_138638.5(CFL2):c.*2233del	CFL2	Deletion (3 prime UTR variant +1 more)	Nemaline Myopathy, Recessive	GUncertain significance
Select item 313078	NM_138638.5(CFL2):c.2076_2078dup	CFL2	Duplication (3 prime UTR variant +1 more)	Nemaline Myopathy, Recessive	GUncertain significance
Select item 313083	NM_138638.5(CFL2):c.*1393del	CFL2	Deletion (3 prime UTR variant +1 more)	Nemaline Myopathy, Recessive	GBenign
Select item 313084	NM_138638.5(CFL2):c.1295_1297del	CFL2	Deletion (3 prime UTR variant +1 more)	Nemaline Myopathy, Recessive	GBenign
Select item 313096	NM_138638.5(CFL2):c.312-7del	CFL2	Deletion (intron variant)	Nemaline Myopathy, Recessive +2 more	GBenign
Select item 330194	NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys)	TNNT1 (E119K +1 more)	Single nucleotide variant (missense variant)	Nemaline Myopathy, Recessive +2 more	GUncertain significance
Select item 130603	NM_003283.6(TNNT1):c.33-8G>A	TNNI3, TNNT1	Single nucleotide variant (intron variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +6 more	GBenign/Likely benign
Select item 330197	NM_003283.6(TNNT1):c.-12+15G>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline Myopathy, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 31855	NM_003283.6(TNNT1):c.-20A>G	TNNT1, TNNI3	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Recessive +6 more	GBenign/Likely benign
Select item 36881	NM_000363.5(TNNI3):c.373-10=	DNAAF3, TNNI3 +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity

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Items: 22