C3809609[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1421329	NM_001128840.3(CACNA1D):c.149T>C (p.Val50Ala)	CACNA1D (V50A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 504764	NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=)	CACNA1D	Single nucleotide variant (synonymous variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +4 more	GLikely benign
Select item 226469	NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=)	CACNA1D	Single nucleotide variant (synonymous variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +3 more	GBenign/Likely benign
Select item 226481	NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=)	CACNA1D	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 592974	NM_000720.4(CACNA1D):c.1480T>C (p.Cys494Arg)	CACNA1D (C494R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1614861	NM_001128840.3(CACNA1D):c.1479-19C>T	CACNA1D	Single nucleotide variant (intron variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GLikely benign
Select item 1391972	NM_001128840.3(CACNA1D):c.1678A>G (p.Lys560Glu)	CACNA1D (K580E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1346650	NM_001128840.3(CACNA1D):c.2143A>G (p.Ile715Val)	CACNA1D (I715V +1 more)	Single nucleotide variant (missense variant)	Sinoatrial node dysfunction and deafness +2 more	GUncertain significance
Select item 1417392	NM_001128840.3(CACNA1D):c.2146A>G (p.Met716Val)	CACNA1D (M716V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1443910	NM_001128840.3(CACNA1D):c.3038G>A (p.Arg1013Gln)	CACNA1D (R1013Q +1 more)	Single nucleotide variant (missense variant)	Sinoatrial node dysfunction and deafness +2 more	GUncertain significance
Select item 1426310	NM_001128840.3(CACNA1D):c.3413T>C (p.Ile1138Thr)	CACNA1D, LOC129936904 (I1138T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 226474	NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser)	CACNA1D (P1318S +1 more)	Single nucleotide variant (missense variant +1 more)	Aldosterone-producing adenoma with seizures and neurological abnormalities +4 more	GBenign/Likely benign
Select item 504809	NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)	CACNA1D (A1786P +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 227204	NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del)	CACNA1D (F1943del +2 more)	Deletion (inframe_deletion)	Aldosterone-producing adenoma with seizures and neurological abnormalities +3 more	GBenign/Likely benign
Select item 634554	NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His)	CACNA1D (R1966H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1405751	NM_001128840.3(CACNA1D):c.6076A>G (p.Thr2026Ala)	CACNA1D (T2002A +2 more)	Single nucleotide variant (missense variant)	Sinoatrial node dysfunction and deafness +2 more	GUncertain significance
Select item 1438559	NM_001128840.3(CACNA1D):c.6349G>A (p.Gly2117Arg)	CACNA1D (G2093R +2 more)	Single nucleotide variant (missense variant)	Sinoatrial node dysfunction and deafness +2 more	GUncertain significance