ClinVar for MedGen (Select 766164) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236684	NM_001104631.2(PDE4D):c.665T>C (p.Ile222Thr)	PDE4D (I100T +7 more)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 2 with or without hormone resistance	GLikely pathogenic
Select item 3236640	NM_001104631.2(PDE4D):c.1828C>A (p.Gln610Lys)	PDE4D (Q308K +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 3236082	NM_001104631.2(PDE4D):c.959C>G (p.Ser320Cys)	PDE4D (S184C +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 2444421	NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr)	PDE4D (I109T +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GPathogenic
Select item 2434627	NM_001104631.2(PDE4D):c.1038T>G (p.Ile346Met)	PDE4D (I122M +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 2434626	NM_001104631.2(PDE4D):c.1006A>G (p.Thr336Ala)	PDE4D (T112A +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 2434625	NM_001104631.2(PDE4D):c.430C>T (p.Pro144Ser)	PDE4D (P144S)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 2434624	NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)	PDE4D (I109V +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 1809692	NM_001104631.2(PDE4D):c.455+306662_455+306663dup	PDE4D	Duplication (intron variant +1 more)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 1696564	NM_001104631.2(PDE4D):c.2399G>T (p.Cys800Phe)	PDE4D (C498F +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 1683529	NM_001104631.2(PDE4D):c.946C>T (p.Leu316Phe)	PDE4D (L14F +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 1283155	NM_001104631.2(PDE4D):c.922-42T>C	PDE4D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1275263	NM_001104631.2(PDE4D):c.1552+37C>T	PDE4D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1239767	NM_001104631.2(PDE4D):c.648-22C>T	PDE4D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230857	NM_001104631.2(PDE4D):c.921+41T>C	PDE4D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 989239	NM_001104631.2(PDE4D):c.1774A>C (p.Lys592Gln)	PDE4D (K290Q +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 989238	NM_001104631.2(PDE4D):c.2051A>G (p.Glu684Gly)	PDE4D (E382G +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GLikely pathogenic
Select item 982782	NM_001104631.2(PDE4D):c.569C>T (p.Ser190Phe)	PDE4D (S119F +7 more)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 2 with or without hormone resistance	GLikely pathogenic
Select item 932066	NM_001104631.2(PDE4D):c.1476T>G (p.Ile492Met)	PDE4D (I190M +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 907639	NM_001104631.2(PDE4D):c.993G>A (p.Glu331=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 907638	NM_001104631.2(PDE4D):c.1041T>C (p.Pro347=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 907637	NM_001104631.2(PDE4D):c.1188+15A>G	PDE4D	Single nucleotide variant (intron variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 907636	NM_001104631.2(PDE4D):c.1189-4C>G	PDE4D	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907635	NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp)	PDE4D (R357W +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GLikely benign
Select item 907571	NM_001104631.2(PDE4D):c.*466G>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 907570	NM_001104631.2(PDE4D):c.*535A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 907512	NM_001104631.2(PDE4D):c.*2336T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 907511	NM_001104631.2(PDE4D):c.*2510C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 907450	NM_001104631.2(PDE4D):c.*4524C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 907449	NM_001104631.2(PDE4D):c.*4529C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906616	NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro)	PDE4D (H201P +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906615	NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val)	PDE4D (I189V +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906614	NM_001104631.2(PDE4D):c.1577A>G (p.Asn526Ser)	PDE4D (N396S +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906555	NM_001104631.2(PDE4D):c.*1295G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906554	NM_001104631.2(PDE4D):c.*1572A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906504	NM_001104631.2(PDE4D):c.*2604A>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906503	NM_001104631.2(PDE4D):c.*2841A>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906457	NM_001104631.2(PDE4D):c.*4703A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906456	NM_001104631.2(PDE4D):c.*4727C>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 906455	NM_001104631.2(PDE4D):c.*4886A>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GUncertain significance
Select item 905103	NM_001104631.2(PDE4D):c.-58G>T	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 905029	NM_001104631.2(PDE4D):c.1707+12A>C	PDE4D	Single nucleotide variant (intron variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 905028	NM_001104631.2(PDE4D):c.1804C>T (p.Leu602Phe)	PDE4D (L602F +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 905027	NM_001104631.2(PDE4D):c.2260A>G (p.Ser754Gly)	PDE4D (S530G +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 905026	NM_001104631.2(PDE4D):c.2355A>C (p.Glu785Asp)	PDE4D (E663D +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904971	NM_001104631.2(PDE4D):c.*1637C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 904970	NM_001104631.2(PDE4D):c.*1729G>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904969	NM_001104631.2(PDE4D):c.*1778T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904968	NM_001104631.2(PDE4D):c.*1850T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 904908	NM_001104631.2(PDE4D):c.*3028A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904907	NM_001104631.2(PDE4D):c.*3210A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904906	NM_001104631.2(PDE4D):c.*3325T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904840	NM_001104631.2(PDE4D):c.*4981C>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904839	NM_001104631.2(PDE4D):c.*5201G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904306	NM_001104631.2(PDE4D):c.225G>A (p.Pro75=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904305	NM_001104631.2(PDE4D):c.758+11C>A	PDE4D	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 904304	NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr)	LOC129993939, PDE4D (P125T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 904303	NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr)	PDE4D (K155T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 904243	NM_001104631.2(PDE4D):c.2366T>A (p.Val789Glu)	PDE4D (V498E +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GUncertain significance
Select item 904242	NM_001104631.2(PDE4D):c.2401G>A (p.Val801Ile)	PDE4D (V545I +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 904241	NM_001104631.2(PDE4D):c.*58G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904240	NM_001104631.2(PDE4D):c.*131T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904239	NM_001104631.2(PDE4D):c.*310C>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904238	NM_001104631.2(PDE4D):c.*403G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904237	NM_001104631.2(PDE4D):c.*414T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904188	NM_001104631.2(PDE4D):c.*2066T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 904187	NM_001104631.2(PDE4D):c.*2185T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904186	NM_001104631.2(PDE4D):c.*2198C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904185	NM_001104631.2(PDE4D):c.*2225C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904133	NM_001104631.2(PDE4D):c.*3418T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904132	NM_001104631.2(PDE4D):c.*3492T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904131	NM_001104631.2(PDE4D):c.*3863T>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904130	NM_001104631.2(PDE4D):c.*3892G>A	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 904060	NM_001104631.2(PDE4D):c.*5304C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 735008	NM_001104631.2(PDE4D):c.240C>G (p.Pro80=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	Acrodysostosis 2 with or without hormone resistance +1 more	GConflicting classifications of pathogenicity
Select item 587609	NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp)	PDE4D (R666W +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 560134	Single allele	PART1, LOC129993943 +6 more	Deletion	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 436281	NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val)	PDE4D (M527V +11 more)	Single nucleotide variant (missense variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GConflicting classifications of pathogenicity
Select item 354001	NM_001104631.2(PDE4D):c.-55C>T	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 354000	NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln)	PDE4D (P42Q)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 2 with or without hormone resistance +2 more	GConflicting classifications of pathogenicity
Select item 353999	NM_001104631.2(PDE4D):c.339G>A (p.Glu113=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 353998	NM_001104631.2(PDE4D):c.456-12C>T	PDE4D	Single nucleotide variant (intron variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign/Likely benign
Select item 353997	NM_001104631.2(PDE4D):c.705T>C (p.Thr235=)	PDE4D	Single nucleotide variant (synonymous variant +2 more)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353996	NM_001104631.2(PDE4D):c.891G>A (p.Arg297=)	PDE4D	Single nucleotide variant (synonymous variant +1 more)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353995	NM_001104631.2(PDE4D):c.1053G>A (p.Gln351=)	PDE4D	Single nucleotide variant (synonymous variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign/Likely benign
Select item 353993	NM_001104631.2(PDE4D):c.1197A>G (p.Glu399=)	PDE4D	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 353992	NM_001104631.2(PDE4D):c.1287+6G>A	PDE4D	Single nucleotide variant (intron variant)	Acrodysostosis 2 with or without hormone resistance +2 more	GBenign
Select item 353991	NM_001104631.2(PDE4D):c.1452+8T>C	PDE4D	Single nucleotide variant (intron variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353990	NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=)	PDE4D	Single nucleotide variant (synonymous variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GConflicting classifications of pathogenicity
Select item 353989	NM_001104631.2(PDE4D):c.1552+7A>G	PDE4D	Single nucleotide variant (intron variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign
Select item 353988	NM_001104631.2(PDE4D):c.1692A>G (p.Lys564=)	PDE4D	Single nucleotide variant (synonymous variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign/Likely benign
Select item 353987	NM_001104631.2(PDE4D):c.1707C>T (p.Ile569=)	PDE4D	Single nucleotide variant (synonymous variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GUncertain significance
Select item 353986	NM_001104631.2(PDE4D):c.1831-7A>G	PDE4D	Single nucleotide variant (intron variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GLikely benign
Select item 353985	NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=)	PDE4D	Single nucleotide variant (synonymous variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GConflicting classifications of pathogenicity
Select item 353984	NM_001104631.2(PDE4D):c.2427G>A (p.Thr809=)	PDE4D	Single nucleotide variant (synonymous variant)	Acrodysostosis 2 with or without hormone resistance +1 more	GBenign/Likely benign
Select item 353981	NM_001104631.2(PDE4D):c.*421A>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353978	NM_001104631.2(PDE4D):c.*649T>G	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353977	NM_001104631.2(PDE4D):c.*780G>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 353974	NM_001104631.2(PDE4D):c.*831A>C	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GBenign
Select item 353971	NM_001104631.2(PDE4D):c.*1034C>T	PDE4D	Single nucleotide variant (3 prime UTR variant)	Acrodysostosis 2 with or without hormone resistance	GUncertain significance

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