"Clinical Genetics, Academic Medical Center"[submitter] AND "MYOZ2"[ge - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45780	NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)	MYOZ2 (Q10P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +5 more	GBenign/Likely benign
Select item 227711	NM_016599.5(MYOZ2):c.39G>A (p.Gln13=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 45788	NM_016599.5(MYOZ2):c.76+10A>G	MYOZ2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 138409	NM_016599.5(MYOZ2):c.76+19C>T	MYOZ2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 138410	NM_016599.5(MYOZ2):c.76+20G>A	MYOZ2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1284789	NM_016599.5(MYOZ2):c.148C>T (p.Leu50Phe)	MYOZ2 (L50F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 31788	NM_016599.5(MYOZ2):c.237A>G (p.Ala79=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 16 +6 more	GBenign
Select item 31787	NM_016599.5(MYOZ2):c.247-18A>G	MYOZ2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 45782	NM_016599.5(MYOZ2):c.360A>G (p.Pro120=)	MYOZ2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 31786	NM_016599.5(MYOZ2):c.459A>G (p.Glu153=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 16 +3 more	GBenign
Select item 213655	NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu)	MYOZ2 (P160L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +4 more	GUncertain significance
Select item 378222	NM_016599.5(MYOZ2):c.561-13T>A	MYOZ2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 178092	NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)	MYOZ2 (R230W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 347407	NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg)	MYOZ2 (G238R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16	GUncertain significance
Select item 30509	NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met)	MYOZ2 (I246M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 45787	NM_016599.5(MYOZ2):c.750C>T (p.Thr250=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign