"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46526	NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)	MYLK2 (A2T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GConflicting classifications of pathogenicity
Select item 46523	NM_033118.4(MYLK2):c.266G>A (p.Gly89Asp)	MYLK2 (G89D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 4244	NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)	MYLK2 (A95E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 36652	NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala)	MYLK2 (P144A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 178088	NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys)	MYLK2 (E170K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 191740	NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)	MYLK2 (N278K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 36654	NM_033118.4(MYLK2):c.918C>T (p.Ala306=)	MYLK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2428674	NM_033118.4(MYLK2):c.1066G>A (p.Val356Ile)	MYLK2 (V356I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 46517	NM_033118.4(MYLK2):c.1068C>T (p.Val356=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +3 more	GBenign/Likely benign
Select item 811093	NM_033118.4(MYLK2):c.1083-5C>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 46518	NM_033118.4(MYLK2):c.1104C>T (p.Phe368=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 178090	NM_033118.4(MYLK2):c.1295+4C>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +3 more	GBenign/Likely benign
Select item 178091	NM_033118.4(MYLK2):c.1458T>C (p.Asp486=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign