C1834481[trait identifier] AND "OMIM"[submitter] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326	NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	NEXN (Y652C +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 12445	NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)	TNNC1 (D145E)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 268	NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)	RBM20 (P638L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 14121	NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)	MYH7 (E1883K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 181282	NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)	MYH7 (R1820W)	Single nucleotide variant (missense variant)	Myosin storage myopathy	GUncertain significance FDA Recognized database
Select item 14092	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	MYH7 (E924K)	Single nucleotide variant (missense variant)	MYH7-related condition +11 more	GPathogenic/Likely pathogenic
Select item 14125	NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)	MYH7 (D906G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14109	NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu)	LOC126861898, MYH7 (F764L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 14098	NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	MYH7 (G741R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14095	NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	MYH7 (R723C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14104	NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	MYH7 (R719W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14113	NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu)	MYH7 (S642L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 14091	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7 (V606M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 14108	NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)	MYH7 (S532P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GPathogenic FDA Recognized database
Select item 14124	NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)	MYH7 (E497D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 14122	NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)	MYH7 (T441M)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 14087	NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	MYH7 (R403Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14102	NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	MYH7 (R403W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14094	NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)	MYH7 (M349T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 14088	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7 (R249Q)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 14112	NM_000257.4(MYH7):c.667G>A (p.Ala223Thr)	MYH7 (A223T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance

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Items: 21