ClinVar for MedGen (Select 374020) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
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 1450676	NM_024514.5(CYP2R1):c.433C>T (p.Arg145Ter)	CYP2R1, PDE3B (R145* +2 more)	Single nucleotide variant (nonsense)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GPathogenic/Likely pathogenic
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 1332743	NM_024514.5(CYP2R1):c.595C>T (p.Arg199Ter)	CYP2R1, PDE3B (R145* +2 more)	Single nucleotide variant (nonsense)	Vitamin D hydroxylation-deficient rickets, type 1B +1 more	GPathogenic/Likely pathogenic
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 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 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 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 977186	NM_024514.5(CYP2R1):c.124_137delinsCG (p.Gly42_Leu46delinsArg)	PDE3B, CYP2R1	Indel (inframe_indel)	Vitamin D hydroxylation-deficient rickets, type 1B	GPathogenic
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 977184	NM_024514.5(CYP2R1):c.367+1G>A	CYP2R1, PDE3B	Single nucleotide variant (splice donor variant)	Vitamin D hydroxylation-deficient rickets, type 1B	GPathogenic
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 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 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 930898	NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr)	CYP2R1, PDE3B (I340T +2 more)	Single nucleotide variant (missense variant)	Vitamin D hydroxylation-deficient rickets, type 1B	GUncertain significance
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 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 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 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 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 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 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 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 2134	NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	CYP2R1, PDE3B (L99P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Vitamin D-dependent rickets, type 1 +2 more	GPathogenic/Likely pathogenic

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Items: 26