"GeneDx"[submitter] AND "PDE3A"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1234823	NM_000921.5(PDE3A):c.-103CGTG[4]	PDE3A, PDE3A-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1269003	NM_000921.5(PDE3A):c.-93TG[11]	PDE3A, PDE3A-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1241874	NM_000921.5(PDE3A):c.-93TG[8]	PDE3A, PDE3A-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1221712	NM_000921.5(PDE3A):c.34G>A (p.Asp12Asn)	PDE3A, PDE3A-AS1 (D12N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1182350	NM_000921.5(PDE3A):c.960+155dup	PDE3A	Duplication (intron variant)	not provided	GBenign
Select item 1275966	NM_000921.5(PDE3A):c.960+165del	PDE3A	Deletion (intron variant)	not provided	GBenign
Select item 1268020	NM_000921.5(PDE3A):c.960+165G>T	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236310	NM_000921.5(PDE3A):c.960+166T>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257839	NM_000921.5(PDE3A):c.960+167T>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241952	NM_000921.5(PDE3A):c.1011+89G>A	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241093	NM_000921.5(PDE3A):c.1011+15147G>C	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278405	NM_000921.5(PDE3A):c.1011+15344G>A	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662137	NM_000921.5(PDE3A):c.1182A>C (p.Arg394Ser)	PDE3A (R394S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226725	NM_000921.5(PDE3A):c.1194C>T (p.Val398=)	PDE3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1247735	NM_000921.5(PDE3A):c.1269+51G>C	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246388	NM_000921.5(PDE3A):c.1269+257G>A	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296049	NM_000921.5(PDE3A):c.1270-176C>T	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504451	NM_000921.5(PDE3A):c.1358T>G (p.Leu453Trp)	PDE3A (L131W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271688	NM_000921.5(PDE3A):c.1425-145A>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239831	NM_000921.5(PDE3A):c.1540+119A>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245100	NM_000921.5(PDE3A):c.1540+194A>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181828	NM_000921.5(PDE3A):c.1760+38A>C	PDE3A	Single nucleotide variant (intron variant)	Brachydactyly-arterial hypertension syndrome +1 more	GBenign
Select item 1226845	NM_000921.5(PDE3A):c.1760+39C>T	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776696	NM_000921.5(PDE3A):c.1801C>A (p.Pro601Thr)	PDE3A (P279T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1275048	NM_000921.5(PDE3A):c.1846+75T>C	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266433	NM_000921.5(PDE3A):c.1846+95T>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233613	NM_000921.5(PDE3A):c.1846+110C>T	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296010	NM_000921.5(PDE3A):c.1846+129T>C	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238464	NM_000921.5(PDE3A):c.1846+168C>T	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296038	NM_000921.5(PDE3A):c.2139+187G>A	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262180	NM_000921.5(PDE3A):c.2251+104G>A	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222714	NM_000921.5(PDE3A):c.2565+136C>T	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260274	NM_000921.5(PDE3A):c.2566-188T>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265674	NM_000921.5(PDE3A):c.2769+30C>T	PDE3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1235780	NM_000921.5(PDE3A):c.2769+52dup	PDE3A	Duplication (intron variant)	not provided	GBenign
Select item 1225283	NM_000921.5(PDE3A):c.2769+214T>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257980	NM_000921.5(PDE3A):c.2770-113G>A	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230409	NM_000921.5(PDE3A):c.2770-56A>C	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243569	NM_000921.5(PDE3A):c.2925+15T>C	PDE3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1250511	NM_000921.5(PDE3A):c.2925+228dup	PDE3A	Duplication (intron variant)	not provided	GBenign
Select item 1269168	NM_000921.5(PDE3A):c.2926-158A>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233644	NM_000921.5(PDE3A):c.3184+218G>A	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258278	NM_000921.5(PDE3A):c.3184+314C>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267370	NM_000921.5(PDE3A):c.3185-166_3185-111del	PDE3A	Deletion (intron variant)	not provided	GBenign
Select item 1238004	NM_000921.5(PDE3A):c.3185-119_3185-117del	PDE3A	Microsatellite (intron variant)	not provided	GBenign
Select item 1245808	NM_000921.5(PDE3A):c.3185-109_3185-108insC	PDE3A	Insertion (intron variant)	not provided	GBenign
Select item 1288170	NM_000921.5(PDE3A):c.3185-108T>C	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49