C2676271[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 177636	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	TNNT2 (W287* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 43677	NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)	TNNT2 (R286H +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 426271	NM_001276345.2(TNNT2):c.865G>A (p.Gly289Arg)	TNNT2 (G279R +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +3 more	GUncertain significance
Select item 43674	NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)	TNNT2 (R278H +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +6 more	GConflicting classifications of pathogenicity
Select item 217495	NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)	TNNT2 (N268I +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 922494	NM_001276345.2(TNNT2):c.812T>G (p.Ile271Ser)	TNNT2 (I228S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 181633	NM_001276345.2(TNNT2):c.810+5G>A	TNNT2	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 450191	NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys)	TNNT2 (Y259C +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +4 more	GUncertain significance
Select item 181630	NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)	TNNT2 (D249N +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 518816	NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)	TNNT2 (R216K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 836380	NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met)	TNNT2 (K210M +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +4 more	GUncertain significance
Select item 537255	NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln)	TNNT2 (R203Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 181624	NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)	TNNT2 (E195K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 132940	NM_001276345.2(TNNT2):c.601-1G>A	TNNT2	Single nucleotide variant (intron variant +1 more)	not specified +6 more	GUncertain significance
Select item 567696	NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)	TNNT2 (E163K +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 181618	NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)	TNNT2 (R148Q +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 43643	NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 516901	NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)	TNNT2	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 927049	NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln)	TNNT2 (E133Q +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +4 more	GUncertain significance
Select item 43636	NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)	TNNT2 (R130C +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 177785	NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)	TNNT2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 921927	NM_001276345.2(TNNT2):c.321G>A (p.Lys107=)	TNNT2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy, familial restrictive, 3 +3 more	GLikely benign
Select item 43630	NM_001276345.2(TNNT2):c.313A>G (p.Met105Val)	TNNT2 (M105V +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1D +3 more	GUncertain significance
Select item 43627	NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)	TNNT2 (R102W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +9 more	GPathogenic
Select item 228021	NM_001276345.2(TNNT2):c.295-14C>T	TNNT2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 43626	NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)	TNNT2 (D86A +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 469519	NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn)	TNNT2 (D86N +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 925600	NM_001276345.2(TNNT2):c.282_283del (p.Arg94fs)	TNNT2 (R93fs +3 more)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 2 +3 more	GUncertain significance
Select item 43619	NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)	TNNT2 (P77L +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +6 more	GUncertain significance
Select item 537254	NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter)	TNNT2 (E45* +3 more)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy, familial restrictive, 3 +3 more	GUncertain significance
Select item 577616	NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly)	TNNT2 (A27G +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +4 more	GUncertain significance
Select item 43400	NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT	TNNT2	Indel	Hypertrophic cardiomyopathy 2 +4 more	GBenign/Likely benign
Select item 188678	NM_001276345.2(TNNT2):c.42-20G>A	TNNT2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign

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Items: 33