"PreventionGenetics, part of Exact Sciences"[submitter] AND "PDE3A"[ge - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037518	NM_000921.5(PDE3A):c.-6T>G	PDE3A, PDE3A-AS1	Single nucleotide variant (5 prime UTR variant)	PDE3A-related disorder	GBenign
Select item 2160171	NM_000921.5(PDE3A):c.24A>G (p.Ala8=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2711959	NM_000921.5(PDE3A):c.269A>G (p.Glu90Gly)	PDE3A, PDE3A-AS1 (E90G)	Single nucleotide variant (missense variant +1 more)	PDE3A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2636461	NM_000921.5(PDE3A):c.454C>A (p.Arg152Ser)	LOC124625920, PDE3A +1 more (R152S)	Single nucleotide variant (missense variant +1 more)	PDE3A-related disorder	GUncertain significance
Select item 1548934	NM_000921.5(PDE3A):c.505G>T (p.Gly169Trp)	LOC124625920, PDE3A +1 more (G169W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2884612	NM_000921.5(PDE3A):c.507G>C (p.Gly169=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	PDE3A-related disorder +1 more	GBenign/Likely benign
Select item 789807	NM_000921.5(PDE3A):c.660G>T (p.Ala220=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	PDE3A-related disorder +1 more	GBenign
Select item 2738842	NM_000921.5(PDE3A):c.761A>G (p.Tyr254Cys)	PDE3A, PDE3A-AS1 (Y254C)	Single nucleotide variant (non-coding transcript variant +2 more)	PDE3A-related disorder +1 more	GLikely benign
Select item 787391	NM_000921.5(PDE3A):c.1045G>A (p.Val349Ile)	PDE3A (V27I +2 more)	Single nucleotide variant (missense variant)	PDE3A-related disorder +1 more	GLikely benign
Select item 3040930	NM_000921.5(PDE3A):c.1338G>C (p.Ser446=)	PDE3A	Single nucleotide variant (synonymous variant)	PDE3A-related disorder	GLikely benign
Select item 725921	NM_000921.5(PDE3A):c.1376G>A (p.Arg459Gln)	PDE3A (R137Q +2 more)	Single nucleotide variant (missense variant)	PDE3A-related disorder +2 more	GBenign/Likely benign
Select item 794068	NM_000921.5(PDE3A):c.1490A>G (p.Tyr497Cys)	PDE3A (Y175C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1601763	NM_000921.5(PDE3A):c.1512T>A (p.His504Gln)	PDE3A (H182Q +2 more)	Single nucleotide variant (missense variant)	PDE3A-related disorder +1 more	GBenign/Likely benign
Select item 709508	NM_000921.5(PDE3A):c.1512T>C (p.His504=)	PDE3A	Single nucleotide variant (synonymous variant)	PDE3A-related disorder +1 more	GBenign
Select item 762027	NM_000921.5(PDE3A):c.2002-8C>T	PDE3A	Single nucleotide variant (intron variant)	PDE3A-related disorder +1 more	GBenign/Likely benign
Select item 781067	NM_000921.5(PDE3A):c.2568G>C (p.Ala856=)	PDE3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2630552	NM_000921.5(PDE3A):c.3025G>T (p.Val1009Leu)	PDE3A (V1009L +3 more)	Single nucleotide variant (missense variant)	PDE3A-related disorder	GUncertain significance