"GeneDx"[submitter] AND "PDE4D"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 353983	NM_001104631.2(PDE4D):c.*33dup	PDE4D	Duplication (3 prime UTR variant)	Acrodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 1268539	NM_001104631.2(PDE4D):c.*33del	PDE4D	Deletion (3 prime UTR variant)	not provided	GBenign
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 1312182	NM_001104631.2(PDE4D):c.2314G>T (p.Asp772Tyr)	PDE4D (D470Y +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663041	NM_001104631.2(PDE4D):c.2263C>A (p.Gln755Lys)	PDE4D (Q453K +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023332	NM_001104631.2(PDE4D):c.2255G>A (p.Ser752Asn)	PDE4D (S450N +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451233	NM_001104631.2(PDE4D):c.2029T>G (p.Tyr677Asp)	PDE4D (Y616D +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267516	NM_001104631.2(PDE4D):c.2014-225del	PDE4D	Deletion (intron variant)	not provided	GBenign
Select item 1252117	NM_001104631.2(PDE4D):c.2013+244A>C	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307627	NM_001104631.2(PDE4D):c.1973C>A (p.Pro658His)	PDE4D (P356H +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230549	NM_001104631.2(PDE4D):c.1831-30G>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282387	NM_001104631.2(PDE4D):c.1831-47A>T	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264462	NM_001104631.2(PDE4D):c.1831-58dup	PDE4D	Duplication (intron variant)	not provided	GBenign
Select item 1206625	NM_001104631.2(PDE4D):c.1831-58_1831-57dup	PDE4D	Duplication (intron variant)	not provided	GLikely benign
Select item 1274176	NM_001104631.2(PDE4D):c.1831-67_1831-66dup	PDE4D	Duplication (intron variant)	not provided	GBenign
Select item 1213310	NM_001104631.2(PDE4D):c.1830+107A>G	PDE4D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229492	NM_001104631.2(PDE4D):c.1830+61C>T	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723862	NM_001104631.2(PDE4D):c.1819G>A (p.Asp607Asn)	PDE4D (D305N +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546176	NM_001104631.2(PDE4D):c.1814A>G (p.Tyr605Cys)	PDE4D (Y544C +11 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 546286	NM_001104631.2(PDE4D):c.1748C>T (p.Ala583Val)	PDE4D (A522V +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235815	NM_001104631.2(PDE4D):c.1708-62G>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207449	NM_001104631.2(PDE4D):c.1708-152_1708-151del	PDE4D	Deletion (intron variant)	not provided	GLikely benign
Select item 1180222	NM_001104631.2(PDE4D):c.1708-232A>C	PDE4D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290094	NM_001104631.2(PDE4D):c.1708-285T>C	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270383	NM_001104631.2(PDE4D):c.1707+314T>C	PDE4D	Single nucleotide variant (intron variant)	not provided	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 2231525	NM_001104631.2(PDE4D):c.1553-1_1555dup	PDE4D	Duplication (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 1241896	NM_001104631.2(PDE4D):c.1553-276A>G	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280572	NM_001104631.2(PDE4D):c.1552+112G>A	PDE4D	Single nucleotide variant (intron variant)	not provided	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 1271797	NM_001104631.2(PDE4D):c.1453-55T>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293986	NM_001104631.2(PDE4D):c.1452+156_1452+159del	PDE4D	Deletion (intron variant)	not provided	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 235668	NM_001104631.2(PDE4D):c.1288-8dup	PDE4D	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1278022	NM_001104631.2(PDE4D):c.1288-78_1288-77dup	PDE4D	Duplication (intron variant)	not provided	GBenign
Select item 1263709	NM_001104631.2(PDE4D):c.1288-78dup	PDE4D	Duplication (intron variant)	not provided	GBenign
Select item 1274146	NM_001104631.2(PDE4D):c.1287+17C>G	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
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 2504458	NM_001104631.2(PDE4D):c.1244C>G (p.Ser415Cys)	PDE4D (S113C +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 353994	NM_001104631.2(PDE4D):c.1189-9dup	PDE4D	Duplication (intron variant)	Acrodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 1197536	NM_001104631.2(PDE4D):c.1189-9del	PDE4D	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1255250	NM_001104631.2(PDE4D):c.1189-107T>C	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273359	NM_001104631.2(PDE4D):c.1189-138C>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245798	NM_001104631.2(PDE4D):c.1188+103_1188+105del	PDE4D	Deletion (intron variant)	not provided	GBenign
Select item 1257918	NM_001104631.2(PDE4D):c.1188+103_1188+104del	PDE4D	Deletion (intron variant)	not provided	GBenign
Select item 1285659	NM_001104631.2(PDE4D):c.1016-173C>T	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253568	NM_001104631.2(PDE4D):c.1015+153C>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452502	NM_001104631.2(PDE4D):c.1010T>G (p.Phe337Cys)	PDE4D (F276C +11 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1802095	NM_001104631.2(PDE4D):c.956T>C (p.Leu319Pro)	PDE4D (L17P +11 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1283155	NM_001104631.2(PDE4D):c.922-42T>C	PDE4D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288744	NM_001104631.2(PDE4D):c.922-225T>G	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275338	NM_001104631.2(PDE4D):c.922-5722T>C	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286633	NM_001104631.2(PDE4D):c.922-5820del	PDE4D	Deletion (intron variant)	not provided	GBenign
Select item 1229559	NM_001104631.2(PDE4D):c.922-6102TA[8]	PDE4D	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1287319	NM_001104631.2(PDE4D):c.922-6102TA[6]	PDE4D	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1241848	NM_001104631.2(PDE4D):c.922-6099_922-6098insATAC	PDE4D	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1186829	NM_001104631.2(PDE4D):c.922-6104C>T	PDE4D	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1230857	NM_001104631.2(PDE4D):c.921+41T>C	PDE4D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 379784	NM_001104631.2(PDE4D):c.881T>G (p.Leu294Arg)	PDE4D (L233R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2871122	NM_001104631.2(PDE4D):c.851T>C (p.Leu284Pro)	PDE4D (L28P +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1288049	NM_001104631.2(PDE4D):c.809-350G>A	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1260814	NM_001104631.2(PDE4D):c.809-494C>A	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1274255	NM_001104631.2(PDE4D):c.809-757G>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283107	NM_001104631.2(PDE4D):c.808+304A>G	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250618	NM_001104631.2(PDE4D):c.808+196C>T	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277206	NM_001104631.2(PDE4D):c.808+189C>T	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280259	NM_001104631.2(PDE4D):c.808+134C>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195279	NM_001104631.2(PDE4D):c.808+20T>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1683996	NM_001104631.2(PDE4D):c.685G>T (p.Val229Phe)	PDE4D (V107F +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1261203	NM_001104631.2(PDE4D):c.685-201G>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274453	NM_001104631.2(PDE4D):c.684+108C>T	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2203651	NM_001104631.2(PDE4D):c.674C>T (p.Pro225Leu)	PDE4D (P115L +7 more)	Single nucleotide variant (missense variant +1 more)	Acrodysostosis 2 with or without hormone resistance +1 more	GPathogenic
Select item 1239767	NM_001104631.2(PDE4D):c.648-22C>T	PDE4D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1261985	NM_001104631.2(PDE4D):c.647+222_647+227del	PDE4D	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1272086	NM_001104631.2(PDE4D):c.647+189AC[20]	PDE4D	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1228068	NM_001104631.2(PDE4D):c.647+189AC[19]	PDE4D	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1289385	NM_001104631.2(PDE4D):c.647+189AC[17]	PDE4D	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1286787	NM_001104631.2(PDE4D):c.647+189AC[16]	PDE4D	Microsatellite (intron variant +1 more)	not provided	GBenign
Select item 1270709	NM_001104631.2(PDE4D):c.647+189AC[14]	PDE4D	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1241786	NM_001104631.2(PDE4D):c.647+102C>T	PDE4D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1280372	NM_001104631.2(PDE4D):c.647+100C>G	PDE4D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1200265	NM_001104631.2(PDE4D):c.647+97A>C	PDE4D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2446279	NM_001104631.2(PDE4D):c.618G>C (p.Met206Ile)	PDE4D (M135I +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313558	NM_001104631.2(PDE4D):c.524G>C (p.Gly175Ala)	PDE4D (G104A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1277660	NM_001104631.2(PDE4D):c.456-59823T>C	PDE4D	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1226137	NM_001104631.2(PDE4D):c.456-59944C>A	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1285977	NM_001104631.2(PDE4D):c.456-59999A>G	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1252627	NM_001104631.2(PDE4D):c.456-60121C>T	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1258184	NM_001104631.2(PDE4D):c.456-60149C>G	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259180	NM_001104631.2(PDE4D):c.456-60175dup	PDE4D	Duplication (intron variant)	not provided	GBenign
Select item 1276999	NM_001104631.2(PDE4D):c.456-60156_456-60155del	PDE4D	Deletion (intron variant)	not provided	GBenign
Select item 1266235	NM_001104631.2(PDE4D):c.456-60155del	PDE4D	Deletion (intron variant)	not provided	GBenign
Select item 1289636	NM_001104631.2(PDE4D):c.456-60171T>C	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289314	NM_001104631.2(PDE4D):c.456-60207T>C	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264506	NM_001104631.2(PDE4D):c.455+306892G>A	PDE4D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234069	NM_001104631.2(PDE4D):c.455+306665G>A	PDE4D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1286324	NM_001104631.2(PDE4D):c.455+306647dup	PDE4D	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1221366	NM_001104631.2(PDE4D):c.455+306647_455+306648dup	PDE4D	Duplication (5 prime UTR variant +1 more)	not provided	GBenign

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