"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PDE3B"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1391635	NM_024514.5(CYP2R1):c.1364G>A (p.Arg455Gln)	CYP2R1, PDE3B (R340Q +2 more)	Single nucleotide variant (missense variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GUncertain significance
Select item 1025990	NM_024514.5(CYP2R1):c.1348G>C (p.Gly450Arg)	CYP2R1, PDE3B (G335R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1637925	NM_024514.5(CYP2R1):c.1330+17G>A	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1008903	NM_024514.5(CYP2R1):c.1166T>A (p.Val389Glu)	CYP2R1, PDE3B (V274E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1167436	NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GBenign/Likely benign
Select item 749633	NM_024514.5(CYP2R1):c.1001-5G>C	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GLikely benign
Select item 429315	NM_024514.5(CYP2R1):c.995T>C (p.Ile332Thr)	CYP2R1, PDE3B (I332T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 936742	NM_024514.5(CYP2R1):c.950A>G (p.Asn317Ser)	CYP2R1, PDE3B (N263S +2 more)	Single nucleotide variant (missense variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GUncertain significance
Select item 735577	NM_024514.5(CYP2R1):c.873A>G (p.Pro291=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GLikely benign
Select item 218799	NM_024514.5(CYP2R1):c.852G>A (p.Met284Ile)	CYP2R1, PDE3B (M284I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 418154	NM_024514.5(CYP2R1):c.851T>C (p.Met284Thr)	CYP2R1, PDE3B (M284T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 977185	NM_024514.5(CYP2R1):c.768dup (p.Leu257fs)	CYP2R1, PDE3B (L142fs +2 more)	Duplication (frameshift variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GPathogenic
Select item 711063	NM_024514.5(CYP2R1):c.651T>C (p.Asn217=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 934633	NM_024514.5(CYP2R1):c.467C>G (p.Ser156Cys)	CYP2R1, PDE3B (S102C +2 more)	Single nucleotide variant (missense variant)	Vitamin D hydroxylation-deficient rickets, type 1B +2 more	GUncertain significance
Select item 957411	NM_024514.5(CYP2R1):c.421G>A (p.Val141Ile)	CYP2R1, PDE3B (V87I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 739173	NM_024514.5(CYP2R1):c.375C>T (p.Leu125=)	CYP2R1, PDE3B	Single nucleotide variant (synonymous variant)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GBenign/Likely benign
Select item 1599299	NM_024514.5(CYP2R1):c.368-12A>T	CYP2R1, PDE3B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1000400	NM_024514.5(CYP2R1):c.352A>G (p.Met118Val)	CYP2R1, PDE3B (M118V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 738909	NM_024514.5(CYP2R1):c.309C>T (p.Ser103=)	CYP2R1, PDE3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1605101	NM_024514.5(CYP2R1):c.225+10C>T	CYP2R1, LOC130005371 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign

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Items: 20