PDE3B[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 152382	GRCh38/hg38 11p15.2(chr11:14594998-14806982)x1	LOC130005370, PDE3B +1 more	Copy number loss	See cases	GUncertain significance
Select item 146351	GRCh38/hg38 11p15.2(chr11:14619894-15179026)x3	CALCA, CALCB +14 more	Copy number gain	See cases	GUncertain significance
Select item 2558780	NM_000922.4(PDE3B):c.35G>T (p.Arg12Leu)	PDE3B (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288046	NM_000922.4(PDE3B):c.52G>A (p.Asp18Asn)	PDE3B (D18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507825	NM_000922.4(PDE3B):c.67C>A (p.Pro23Thr)	PDE3B (P23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269424	NM_000922.4(PDE3B):c.74A>G (p.Glu25Gly)	PDE3B (E25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210693	NM_000922.4(PDE3B):c.77G>A (p.Ser26Asn)	PDE3B (S26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603388	NM_000922.4(PDE3B):c.88G>C (p.Gly30Arg)	PDE3B (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357549	NM_000922.4(PDE3B):c.133C>T (p.Arg45Cys)	PDE3B (R45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210680	NM_000922.4(PDE3B):c.140T>G (p.Phe47Cys)	PDE3B (F47C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208594	NM_000922.4(PDE3B):c.229C>G (p.Arg77Gly)	PDE3B (R77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210683	NM_000922.4(PDE3B):c.230G>C (p.Arg77Pro)	PDE3B (R77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210685	NM_000922.4(PDE3B):c.251C>T (p.Ala84Val)	PDE3B (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210688	NM_000922.4(PDE3B):c.272C>T (p.Ala91Val)	PDE3B (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405049	NM_000922.4(PDE3B):c.357G>C (p.Leu119Phe)	PDE3B (L119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325691	NM_000922.4(PDE3B):c.361C>T (p.Pro121Ser)	PDE3B (P121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265742	NM_000922.4(PDE3B):c.392T>G (p.Phe131Cys)	PDE3B (F131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811422	NM_000922.4(PDE3B):c.409A>G (p.Thr137Ala)	PDE3B (T137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210690	NM_000922.4(PDE3B):c.452C>G (p.Ser151Cys)	PDE3B (S151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811425	NM_000922.4(PDE3B):c.476C>T (p.Ala159Val)	PDE3B (A159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357898	NM_000922.4(PDE3B):c.565C>A (p.Pro189Thr)	PDE3B (P189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547321	NM_000922.4(PDE3B):c.608G>C (p.Cys203Ser)	PDE3B (C203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374182	NM_000922.4(PDE3B):c.638C>G (p.Pro213Arg)	PDE3B (P213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397778	NM_000922.4(PDE3B):c.649C>T (p.Arg217Trp)	PDE3B (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210691	NM_000922.4(PDE3B):c.709C>G (p.Leu237Val)	PDE3B (L237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308119	NM_000922.4(PDE3B):c.740T>C (p.Leu247Pro)	PDE3B (L247P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210692	NM_000922.4(PDE3B):c.748G>T (p.Gly250Cys)	PDE3B (G250C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 724497	NM_000922.4(PDE3B):c.765T>G (p.Ala255=)	PDE3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3210694	NM_000922.4(PDE3B):c.802C>G (p.Gln268Glu)	PDE3B (Q268E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389936	NM_000922.4(PDE3B):c.815C>T (p.Ala272Val)	PDE3B (A272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620602	NM_000922.4(PDE3B):c.823C>T (p.His275Tyr)	PDE3B (H275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303494	NM_000922.4(PDE3B):c.923A>G (p.Tyr308Cys)	PDE3B (Y308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154135	GRCh38/hg38 11p15.2(chr11:14684722-15210307)x3	CALCA, CALCB +13 more	Copy number gain	See cases	GUncertain significance
Select item 2545825	NM_000922.4(PDE3B):c.1079G>C (p.Arg360Pro)	PDE3B (R360P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288830	NM_000922.4(PDE3B):c.1136C>G (p.Ser379Cys)	PDE3B (S457C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288284	NM_000922.4(PDE3B):c.1142G>C (p.Arg381Pro)	PDE3B (R459P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209681	NM_000922.4(PDE3B):c.1161G>C (p.Met387Ile)	PDE3B (M387I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284489	NM_000922.4(PDE3B):c.1168T>C (p.Phe390Leu)	PDE3B (F390L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596967	NM_000922.4(PDE3B):c.1373G>A (p.Arg458His)	PDE3B (R536H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267429	NM_000922.4(PDE3B):c.1373G>C (p.Arg458Pro)	PDE3B (R536P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349892	NM_000922.4(PDE3B):c.1486G>A (p.Val496Ile)	PDE3B (V445I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399470	NM_000922.4(PDE3B):c.1519G>T (p.Ala507Ser)	PDE3B (A456S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559698	NM_000922.4(PDE3B):c.1576A>G (p.Thr526Ala)	PDE3B (T604A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361859	NM_000922.4(PDE3B):c.1604T>A (p.Ile535Lys)	PDE3B (I484K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548201	NM_000922.4(PDE3B):c.1685C>T (p.Pro562Leu)	PDE3B (P562L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206423	NM_000922.4(PDE3B):c.1692T>G (p.Phe564Leu)	PDE3B (F564L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749772	NM_000922.4(PDE3B):c.1748T>C (p.Met583Thr)	PDE3B (M661T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2285661	NM_000922.4(PDE3B):c.1818A>C (p.Glu606Asp)	PDE3B (E555D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551577	NM_000922.4(PDE3B):c.1832A>C (p.Lys611Thr)	PDE3B (K611T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392116	NM_000922.4(PDE3B):c.1844A>G (p.Lys615Arg)	PDE3B (K615R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778514	NM_000922.4(PDE3B):c.1956+9T>C	PDE3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3210681	NM_000922.4(PDE3B):c.2189G>C (p.Gly730Ala)	PDE3B (G730A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210682	NM_000922.4(PDE3B):c.2243C>A (p.Ala748Glu)	PDE3B (A826E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294253	NM_000922.4(PDE3B):c.2340C>A (p.Asn780Lys)	PDE3B (N729K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748809	NM_000922.4(PDE3B):c.2367G>A (p.Ser789=)	PDE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375771	NM_000922.4(PDE3B):c.2374T>C (p.Cys792Arg)	PDE3B (C741R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351121	NM_000922.4(PDE3B):c.2378C>G (p.Ser793Cys)	PDE3B (S742C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210684	NM_000922.4(PDE3B):c.2438C>G (p.Ala813Gly)	PDE3B (A813G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791312	NM_000922.4(PDE3B):c.2556T>C (p.Asn852=)	PDE3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3210687	NM_000922.4(PDE3B):c.2594G>T (p.Arg865Leu)	PDE3B (R943L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210686	NM_000922.4(PDE3B):c.2594G>A (p.Arg865His)	PDE3B (R865H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709843	NM_000922.4(PDE3B):c.2661T>C (p.Ile887=)	PDE3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709844	NM_000922.4(PDE3B):c.2724+9T>C	PDE3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709845	NM_000922.4(PDE3B):c.2730T>C (p.Asn910=)	PDE3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2299336	NM_000922.4(PDE3B):c.2858A>G (p.Glu953Gly)	PDE3B (E953G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789207	NM_000922.4(PDE3B):c.3043G>A (p.Glu1015Lys)	PDE3B (E1093K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2241645	NM_000922.4(PDE3B):c.3099A>C (p.Leu1033Phe)	PDE3B (L1033F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321032	NM_000922.4(PDE3B):c.3106G>A (p.Glu1036Lys)	PDE3B (E1036K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210689	NM_000922.4(PDE3B):c.3118A>G (p.Met1040Val)	PDE3B (M1040V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736617	NM_000922.4(PDE3B):c.3147A>G (p.Pro1049=)	PDE3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2251284	NM_000922.4(PDE3B):c.3167G>A (p.Arg1056Gln)	PDE3B (R1134Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210133	NM_000922.4(PDE3B):c.3254A>G (p.Asp1085Gly)	PDE3B (D1085G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770400	NM_000922.4(PDE3B):c.3274G>C (p.Glu1092Gln)	PDE3B (E1041Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2236628	NM_000922.4(PDE3B):c.3310G>A (p.Val1104Ile)	PDE3B (V1053I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	ABCC8, ANO3 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 689164	GRCh37/hg19 11p15.2(chr11:14513629-14816556)x3	COPB1, PDE3B +1 more	Copy number gain	not provided	GUncertain significance
Select item 686408	GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4	SPON1, PTH +6 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563837	GRCh37/hg19 11p15.2(chr11:14656170-14938525)x1	CYP2R1, PDE3B +1 more	Copy number loss	not provided	GUncertain significance
Select item 442407	GRCh37/hg19 11p15.2(chr11:14460052-15556068)x3	CALCA, CALCB +5 more	Copy number gain	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 369983	GRCh37/hg19 11p15.2(chr11:14657389-14918308)x1	PDE3B, PSMA1 +1 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic
Select item 369982	GRCh37/hg19 11p15.2(chr11:14504463-14909461)x1	COPB1, CYP2R1 +2 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic
Select item 226211	GRCh37/hg19 11p15.2(chr11:14865608-14906548)	CYP2R1, PDE3B	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 94