"MYLK2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 18

	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)	MYLK2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 517915	NM_033118.4(MYLK2):c.420G>A (p.Arg140=)	MYLK2	Single nucleotide variant (synonymous variant)	MYLK2-related disorder +1 more	GLikely benign
Select item 36652	NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala)	MYLK2 (P144A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1085707	NM_033118.4(MYLK2):c.633C>T (p.Thr211=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +2 more	GLikely benign
Select item 3040783	NM_033118.4(MYLK2):c.772+8A>T	MYLK2	Single nucleotide variant (intron variant)	MYLK2-related disorder	GLikely benign
Select item 178089	NM_033118.4(MYLK2):c.786A>G (p.Pro262=)	MYLK2	Single nucleotide variant (synonymous variant)	MYLK2-related disorder +3 more	GBenign/Likely benign
Select item 191740	NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)	MYLK2 (N278K)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 3031217	NM_033118.4(MYLK2):c.927C>A (p.Leu309=)	MYLK2	Single nucleotide variant (synonymous variant)	MYLK2-related disorder	GLikely benign
Select item 1131734	NM_033118.4(MYLK2):c.987G>A (p.Leu329=)	MYLK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2913903	NM_033118.4(MYLK2):c.1083-8G>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +1 more	GLikely benign
Select item 164506	NM_033118.4(MYLK2):c.1176C>T (p.Asp392=)	MYLK2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 473042	NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile)	MYLK2 (T418I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46520	NM_033118.4(MYLK2):c.1308C>T (p.Asn436=)	MYLK2	Single nucleotide variant (synonymous variant)	MYLK2-related disorder +2 more	GBenign/Likely benign
Select item 1136614	NM_033118.4(MYLK2):c.1377C>A (p.Ile459=)	MYLK2	Single nucleotide variant (synonymous variant)	MYLK2-related disorder +1 more	GLikely benign
Select item 2628626	NM_033118.4(MYLK2):c.1432G>A (p.Gly478Ser)	MYLK2 (G478S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 654781	NM_033118.4(MYLK2):c.1505A>G (p.Asp502Gly)	MYLK2 (D502G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 915745	NM_033118.4(MYLK2):c.1564G>A (p.Val522Ile)	MYLK2 (V522I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 177964	NM_033118.4(MYLK2):c.1711-6C>T	MYLK2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign