ClinVar (all) for Orgtrack (Select 500025) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31901	NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu)	TPM1 (K248E +2 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 9	GPathogenic
Select item 31900	NM_001018005.2(TPM1):c.61= (p.Arg21=)	TPM1	Single nucleotide variant (no sequence alteration)	not provided	Gnot provided
Select item 31899	NM_001018005.2(TPM1):c.479G>A (p.Arg160His)	TPM1 (R160H +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 31898	NM_001018005.2(TPM1):c.850A>G (p.Ile284Val)	TPM1 (I284V +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 31897	NM_001018005.2(TPM1):c.109A>G (p.Lys37Glu)	TPM1 (K37E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 31896	NM_001018005.2(TPM1):c.830C>T (p.Ala277Val)	TPM1 (A277V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 31895	NM_001018005.2(TPM1):c.715G>A (p.Ala239Thr)	TPM1 (A239T +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 31894	NM_001018005.2(TPM1):c.240+4470G>T	LOC130057222, TPM1 +1 more (S16I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 31893	NM_001018005.2(TPM1):c.67G>C (p.Glu23Gln)	TPM1 (E23Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 31892	NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn)	TPM1 (K15N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 31891	NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr)	TPM1 (I92T +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 31890	NM_001018005.2(TPM1):c.241-12_241-11delinsTG	TPM1	Indel (intron variant)	not provided	Gnot provided
Select item 31889	NM_001018005.2(TPM1):c.486T>C (p.Tyr162=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 31888	NM_001018005.2(TPM1):c.453C>A (p.Ala151=)	TPM1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 31887	NM_001018005.2(TPM1):c.549T>G (p.Ala183=)	TPM1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 31886	NM_001018005.2(TPM1):c.403C>A (p.Gln135Lys)	TPM1 (Q135K +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31885	NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)	TPM1 (M281T +1 more)	Single nucleotide variant (intron variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 31884	NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)	TPM1 (D230N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 31883	NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)	TPM1 (S215L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 31882	NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)	TPM1 (E192K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 31881	NM_001018005.2(TPM1):c.554T>G (p.Leu185Arg)	TPM1 (L185R +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31880	NM_001018005.2(TPM1):c.539A>T (p.Glu180Val)	TPM1 (E180V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 31879	NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr)	TPM1 (I172T +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 31878	NM_001018005.2(TPM1):c.209A>C (p.Lys70Thr)	TPM1 (K70T +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 31877	NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)	TPM1 (A63V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 31876	NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)	TPM1 (E62Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 31875	NM_001018005.2(TPM1):c.172G>C (p.Asp58His)	TPM1 (D58H +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 12459	NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys)	TPM1 (E40K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 12458	NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys)	TPM1 (E54K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12457	NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)	TPM1 (V95A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 12456	NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)	TPM1 (D175N +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y +6 more	GPathogenic
Select item 12455	NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly)	TPM1 (E180G +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic

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Items: 32