ClinVar for MedGen (Select 462554) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298116	NM_016599.5(MYOZ2):c.772G>C (p.Val258Leu)	MYOZ2 (V258L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1677519	NM_016599.5(MYOZ2):c.327del (p.Asn110fs)	MYOZ2 (N110fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1465143	NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)	MYOZ2 (M1L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1450707	NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys)	MYOZ2 (E251K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +2 more	GUncertain significance
Select item 1421517	NM_016599.5(MYOZ2):c.11A>T (p.His4Leu)	MYOZ2 (H4L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1041934	NM_016599.5(MYOZ2):c.19A>G (p.Met7Val)	MYOZ2 (M7V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 809673	NM_016599.5(MYOZ2):c.415T>A (p.Phe139Ile)	MYOZ2 (F139I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 560148	Single allele	MYOZ2	Duplication	Hypertrophic cardiomyopathy 16	GUncertain significance
Select item 518351	NM_016599.5(MYOZ2):c.377-5C>T	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 16	GLikely benign
Select item 454464	NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala)	MYOZ2 (T249A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +3 more	GUncertain significance
Select item 412240	NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)	MYOZ2 (R115*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 16 +3 more	GUncertain significance
Select item 347424	NM_016599.5(MYOZ2):c.*1262del	MYOZ2	Deletion (3 prime UTR variant)	Hypertrophic cardiomyopathy 16 +1 more	GUncertain significance
Select item 347423	NM_016599.5(MYOZ2):c.*1262dup	MYOZ2	Duplication (3 prime UTR variant)	Hypertrophic cardiomyopathy 16 +1 more	GUncertain significance
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 347405	NM_016599.5(MYOZ2):c.-15+11dup	MYOZ2	Duplication (intron variant)	Hypertrophic cardiomyopathy 16 +2 more	GBenign/Likely benign
Select item 227711	NM_016599.5(MYOZ2):c.39G>A (p.Gln13=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 225418	NM_016599.5(MYOZ2):c.560+1G>T	MYOZ2	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 16	GUncertain significance
Select item 213656	NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys)	MYOZ2 (R61C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 213655	NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu)	MYOZ2 (P160L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 191745	NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu)	MYOZ2 (P225L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +3 more	GUncertain significance
Select item 191744	NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu)	MYOZ2 (F222L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 191742	NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter)	MYOZ2 (S101*)	Single nucleotide variant (nonsense)	Cardiomyopathy +4 more	GUncertain significance
Select item 138410	NM_016599.5(MYOZ2):c.76+20G>A	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 138409	NM_016599.5(MYOZ2):c.76+19C>T	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +3 more	GBenign
Select item 45787	NM_016599.5(MYOZ2):c.750C>T (p.Thr250=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 16 +5 more	GBenign
Select item 45784	NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)	MYOZ2 (L163S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 45783	NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)	MYOZ2 (Q149H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +3 more	GUncertain significance
Select item 45781	NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)	MYOZ2 (Q10R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +4 more	GUncertain significance
Select item 45780	NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)	MYOZ2 (Q10P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 45778	NM_016599.5(MYOZ2):c.-3dup	MYOZ2	Duplication	Hypertrophic cardiomyopathy 16 +4 more	GBenign
Select item 31788	NM_016599.5(MYOZ2):c.237A>G (p.Ala79=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GBenign
Select item 31787	NM_016599.5(MYOZ2):c.247-18A>G	MYOZ2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 31786	NM_016599.5(MYOZ2):c.459A>G (p.Glu153=)	MYOZ2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 30509	NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met)	MYOZ2 (I246M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 30508	NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)	MYOZ2 (S48P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16	GLikely pathogenic

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Items: 35