C0241005[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1025712	NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)	CAV3 (Q12R)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 798090	NM_033337.3(CAV3):c.60G>A (p.Lys20=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 8283	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	CAV3, SSUH2 (R27Q)	Single nucleotide variant (missense variant)	Distal myopathy, Tateyama type +6 more	GPathogenic
Select item 31740	NM_033337.3(CAV3):c.114+2T>C	CAV3	Single nucleotide variant (splice donor variant)	Long QT syndrome +5 more	GPathogenic
Select item 409255	NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)	CAV3, OXTR (E42A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 409259	NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)	CAV3, OXTR (P48R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy +13 more	GBenign/Likely benign
Select item 409254	NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)	CAV3, OXTR (S61N)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GUncertain significance
Select item 409256	NM_033337.3(CAV3):c.221G>A (p.Arg74His)	CAV3, OXTR (R74H)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 1025525	NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)	CAV3, OXTR (P83S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 457130	NM_033337.3(CAV3):c.254C>T (p.Ala85Val)	CAV3, OXTR (A85V)	Single nucleotide variant (missense variant)	Rippling muscle disease 2 +5 more	GUncertain significance
Select item 1349629	NM_033337.3(CAV3):c.310G>C (p.Val104Leu)	CAV3, OXTR (V104L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 840845	NM_033337.3(CAV3):c.310G>A (p.Val104Met)	CAV3, OXTR (V104M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +10 more	GBenign/Likely benign
Select item 288112	NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)	CAV3, OXTR (A134T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 279736	NM_033337.3(CAV3):c.401C>T (p.Ala134Val)	CAV3, OXTR (A134V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 180800	NM_033337.3(CAV3):c.433G>A (p.Val145Met)	OXTR, CAV3 (V145M)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 900587	NM_033337.3(CAV3):c.*134G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 902273	NM_033337.3(CAV3):c.*441T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 346854	NM_033337.3(CAV3):c.*592G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 903140	NM_033337.3(CAV3):c.*658T>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 346857	NM_033337.3(CAV3):c.*741G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 346862	NM_033337.3(CAV3):c.*834A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346863	NM_033337.3(CAV3):c.*852G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 4200	NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	GDAP1 (L239F +3 more)	Single nucleotide variant (missense variant +1 more)	Peripheral axonal neuropathy +11 more	GPathogenic/Likely pathogenic
Select item 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy +12 more	GPathogenic/Likely pathogenic
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration +24 more	GPathogenic
Select item 560377	NM_000152.5(GAA):c.4G>T (p.Gly2Ter)	GAA (G2*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 373680	NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)	RYR1 (R1667H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +10 more	GUncertain significance
Select item 224400	NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	RYR1 (R3867C +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity

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Items: 30