PDE1B[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 3210648	NM_000924.4(PDE1B):c.107G>C (p.Arg36Pro)	PDE1B (R36P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210651	NM_000924.4(PDE1B):c.220G>A (p.Glu74Lys)	PDE1B (E33K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214527	NM_000924.4(PDE1B):c.226C>T (p.Arg76Trp)	PDE1B (R35W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570666	NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)	PDE1B (Q66* +2 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, moderate +3 more	GUncertain significance
Select item 2540683	NM_000924.4(PDE1B):c.292C>T (p.Arg98Trp)	PDE1B (R78W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295013	NM_000924.4(PDE1B):c.389A>G (p.Gln130Arg)	PDE1B (Q110R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 718750	NM_000924.4(PDE1B):c.402C>T (p.Phe134=)	PDE1B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3210652	NM_000924.4(PDE1B):c.495C>G (p.Cys165Trp)	PDE1B (C124W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276067	NM_000924.4(PDE1B):c.574A>G (p.Asn192Asp)	PDE1B (N151D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570665	NM_000924.4(PDE1B):c.735+5G>A	PDE1B	Single nucleotide variant (intron variant)	Intellectual disability, moderate +3 more	GUncertain significance
Select item 2242376	NM_000924.4(PDE1B):c.827T>C (p.Ile276Thr)	PDE1B (I139T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337645	NM_000924.4(PDE1B):c.856T>C (p.Tyr286His)	PDE1B (Y245H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302036	NM_000924.4(PDE1B):c.1234C>T (p.Arg412Cys)	PDE1B (R275C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233610	NM_000924.4(PDE1B):c.1333C>G (p.Gln445Glu)	PDE1B (Q445E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210649	NM_000924.4(PDE1B):c.1337C>T (p.Pro446Leu)	PDE1B (P309L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274461	NM_000924.4(PDE1B):c.1496G>A (p.Arg499Gln)	PDE1B (R458Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248541	NM_000924.4(PDE1B):c.1543C>G (p.Pro515Ala)	PDE1B (P495A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551499	NM_000924.4(PDE1B):c.1544C>G (p.Pro515Arg)	PDE1B (P495R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517662	NM_000924.4(PDE1B):c.1564C>G (p.Pro522Ala)	PDE1B (P385A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 24