C3809609[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 226480	NM_001128840.3(CACNA1D):c.927A>G (p.Val309=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 226481	NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=)	CACNA1D	Single nucleotide variant (synonymous variant)	CACNA1D-related disorder +4 more	GBenign/Likely benign
Select item 226467	NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=)	CACNA1D	Single nucleotide variant (synonymous variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +3 more	GBenign
Select item 226468	NM_001128840.3(CACNA1D):c.1220+700C>T	CACNA1D	Single nucleotide variant (intron variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GBenign
Select item 227197	NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp)	CACNA1D (L871W +1 more)	Single nucleotide variant (missense variant)	CACNA1D-related disorder +4 more	GBenign/Likely benign
Select item 226470	NM_001128840.3(CACNA1D):c.2700C>T (p.Ser900=)	CACNA1D	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 227200	NM_001128840.3(CACNA1D):c.3361A>G (p.Ile1121Val)	CACNA1D, LOC129936904 (I1141V +1 more)	Single nucleotide variant (missense variant)	CACNA1D-related disorder +4 more	GBenign/Likely benign
Select item 226473	NM_001128840.3(CACNA1D):c.3870+13C>G	CACNA1D	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 226474	NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser)	CACNA1D (P1318S +1 more)	Single nucleotide variant (missense variant +1 more)	CACNA1D-related disorder +4 more	GBenign/Likely benign
Select item 226475	NM_001128840.3(CACNA1D):c.3954C>T (p.Phe1318=)	CACNA1D	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 226476	NM_001128840.3(CACNA1D):c.5255C>T (p.Thr1752Ile)	CACNA1D (T1772I +2 more)	Single nucleotide variant (missense variant)	CACNA1D-related disorder +3 more	GBenign
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 227206	NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=)	CACNA1D	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 226477	NM_001128840.3(CACNA1D):c.6051G>A (p.Pro2017=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 226478	NM_001128840.3(CACNA1D):c.6348C>T (p.Asn2116=)	CACNA1D	Single nucleotide variant (synonymous variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +3 more	GBenign