"GeneDx"[submitter] AND "LOC129936904"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1468280	NM_001128840.3(CACNA1D):c.3352A>G (p.Ile1118Val)	CACNA1D, LOC129936904 (I1118V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227200	NM_001128840.3(CACNA1D):c.3361A>G (p.Ile1121Val)	CACNA1D, LOC129936904 (I1141V +1 more)	Single nucleotide variant (missense variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +3 more	GBenign/Likely benign
Select item 1315314	NM_001128840.3(CACNA1D):c.3374G>A (p.Arg1125His)	LOC129936904, CACNA1D (R1125H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189004	NM_001128840.3(CACNA1D):c.3376G>T (p.Val1126Leu)	CACNA1D, LOC129936904 (V1146L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1305152	NM_001128840.3(CACNA1D):c.3385T>G (p.Ser1129Ala)	CACNA1D, LOC129936904 (S1129A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar