"GeneDx"[submitter] AND "CPAMD8"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1240872	NM_015692.5(CPAMD8):c.*130A>C	CPAMD8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1237649	NM_015692.5(CPAMD8):c.5528A>G (p.Gln1843Arg)	CPAMD8 (Q1843R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2501325	NM_015692.5(CPAMD8):c.5521G>A (p.Ala1841Thr)	CPAMD8 (A1841T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1278790	NM_015692.5(CPAMD8):c.5426+200C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278930	NM_015692.5(CPAMD8):c.5426+40T>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248916	NM_015692.5(CPAMD8):c.5179G>A (p.Asp1727Asn)	CPAMD8 (D1727N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1260417	NM_015692.5(CPAMD8):c.4989C>G (p.Thr1663=)	CPAMD8, LOC130063904	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1233774	NM_015692.5(CPAMD8):c.4849-165dup	CPAMD8	Duplication (intron variant)	not provided	GBenign
Select item 1262158	NM_015692.5(CPAMD8):c.4773+161C>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281538	NM_015692.5(CPAMD8):c.4773+68dup	CPAMD8	Duplication (intron variant)	not provided	GBenign
Select item 1224108	NM_015692.5(CPAMD8):c.4470+176_4470+194del	CPAMD8	Deletion (intron variant)	not provided	GBenign
Select item 1243982	NM_015692.5(CPAMD8):c.4252-51A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274286	NM_015692.5(CPAMD8):c.4252-75T>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269470	NM_015692.5(CPAMD8):c.4251+165C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175671	NM_015692.5(CPAMD8):c.4028-58G>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276515	NM_015692.5(CPAMD8):c.4028-66C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246237	NM_015692.5(CPAMD8):c.4028-137C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267456	NM_015692.5(CPAMD8):c.3911C>T (p.Ala1304Val)	CPAMD8 (A1304V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1247509	NM_015692.5(CPAMD8):c.3862-164G>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695622	NM_015692.5(CPAMD8):c.3861G>C (p.Glu1287Asp)	CPAMD8 (E1287D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1280774	NM_015692.5(CPAMD8):c.3803C>T (p.Thr1268Ile)	CPAMD8 (T1268I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1271141	NM_015692.5(CPAMD8):c.3787-3C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245397	NM_015692.5(CPAMD8):c.3629+165T>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288909	NM_015692.5(CPAMD8):c.3629+156A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254996	NM_015692.5(CPAMD8):c.3548-173A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243068	NM_015692.5(CPAMD8):c.3547+108G>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234108	NM_015692.5(CPAMD8):c.3466G>A (p.Val1156Ile)	CPAMD8 (V1156I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1260862	NM_015692.5(CPAMD8):c.3145-29C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241900	NM_015692.5(CPAMD8):c.3144+158dup	CPAMD8	Duplication (intron variant)	not provided	GBenign
Select item 1281213	NM_015692.5(CPAMD8):c.3144+117A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276312	NM_015692.5(CPAMD8):c.3144+89A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267675	NM_015692.5(CPAMD8):c.3144+54C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2068791	NM_015692.5(CPAMD8):c.2950C>T (p.Arg984Cys)	CPAMD8 (R984C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1245787	NM_015692.5(CPAMD8):c.2846-196T>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248602	NM_015692.5(CPAMD8):c.2820C>G (p.Thr940=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1258680	NM_015692.5(CPAMD8):c.2805C>T (p.Val935=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1286283	NM_015692.5(CPAMD8):c.2793+214C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178549	NM_015692.5(CPAMD8):c.2793+65C>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229358	NM_015692.5(CPAMD8):c.2663-187A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248216	NM_015692.5(CPAMD8):c.2508+135A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267708	NM_015692.5(CPAMD8):c.2276+139C>T	CPAMD8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1229807	NM_015692.5(CPAMD8):c.2276+42G>C	CPAMD8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1294611	NM_015692.5(CPAMD8):c.2214-180_2214-174del	CPAMD8	Deletion (intron variant)	not provided	GBenign
Select item 375310	NM_015692.5(CPAMD8):c.2211dup (p.Arg738fs)	CPAMD8 (R738fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1227278	NM_015692.5(CPAMD8):c.2207C>A (p.Pro736His)	CPAMD8 (P736H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1276899	NM_015692.5(CPAMD8):c.2124C>T (p.Asp708=)	CPAMD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1183390	NM_015692.5(CPAMD8):c.2070+42T>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262955	NM_015692.5(CPAMD8):c.1909-220T>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294609	NM_015692.5(CPAMD8):c.1908+39G>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283305	NM_015692.5(CPAMD8):c.1758+198G>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297930	NM_015692.5(CPAMD8):c.1758+164A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265837	NM_015692.5(CPAMD8):c.1758+57A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267983	NM_015692.5(CPAMD8):c.1637A>G (p.His546Arg)	CPAMD8 (H546R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1241948	NM_015692.5(CPAMD8):c.1617C>A (p.Asp539Glu)	CPAMD8 (D539E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1294608	NM_015692.5(CPAMD8):c.1586-108C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232165	NM_015692.5(CPAMD8):c.1585+181G>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245506	NM_015692.5(CPAMD8):c.1585+178G>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286689	NM_015692.5(CPAMD8):c.1585+166C>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246357	NM_015692.5(CPAMD8):c.1524A>C (p.Arg508=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1181106	NM_015692.5(CPAMD8):c.1511C>T (p.Thr504Ile)	CPAMD8 (T504I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1183912	NM_015692.5(CPAMD8):c.1396-37G>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297931	NM_015692.5(CPAMD8):c.1395+76T>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247353	NM_015692.5(CPAMD8):c.1395+15A>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225302	NM_015692.5(CPAMD8):c.1296T>C (p.Pro432=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1271735	NM_015692.5(CPAMD8):c.1267-20T>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182010	NM_015692.5(CPAMD8):c.1267-87dup	CPAMD8	Duplication (intron variant)	not provided	GBenign
Select item 1258321	NM_015692.5(CPAMD8):c.1267-150T>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273422	NM_015692.5(CPAMD8):c.1266+64G>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253196	NM_015692.5(CPAMD8):c.1113C>T (p.Pro371=)	CPAMD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1275119	NM_015692.5(CPAMD8):c.1095+96C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239415	NM_015692.5(CPAMD8):c.994G>A (p.Ala332Thr)	CPAMD8 (A332T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 770285	NM_015692.5(CPAMD8):c.964G>A (p.Val322Met)	CPAMD8 (V322M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1282826	NM_015692.5(CPAMD8):c.963G>A (p.Met321Ile)	CPAMD8 (M321I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1287114	NM_015692.5(CPAMD8):c.922G>A (p.Val308Ile)	CPAMD8 (V308I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1236726	NM_015692.5(CPAMD8):c.918G>A (p.Ala306=)	CPAMD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1258856	NM_015692.5(CPAMD8):c.881G>A (p.Arg294Gln)	CPAMD8 (R294Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1286350	NM_015692.5(CPAMD8):c.868-135T>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234783	NM_015692.5(CPAMD8):c.867+209_867+225del	CPAMD8	Deletion (intron variant)	not provided	GBenign
Select item 1273446	NM_015692.5(CPAMD8):c.867+180C>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223884	NM_015692.5(CPAMD8):c.794T>C (p.Met265Thr)	CPAMD8 (M265T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1289787	NM_015692.5(CPAMD8):c.759-79T>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180002	NM_015692.5(CPAMD8):c.758+155G>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224960	NM_015692.5(CPAMD8):c.758+75G>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234013	NM_015692.5(CPAMD8):c.758+61G>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262177	NM_015692.5(CPAMD8):c.751C>T (p.Arg251Trp)	CPAMD8 (R251W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1311929	NM_015692.5(CPAMD8):c.730G>A (p.Ala244Thr)	CPAMD8 (A244T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1283881	NM_015692.5(CPAMD8):c.687T>C (p.Phe229=)	CPAMD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1260279	NM_015692.5(CPAMD8):c.673+198A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239025	NM_015692.5(CPAMD8):c.505-191A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286221	NM_015692.5(CPAMD8):c.504+207del	CPAMD8	Deletion (intron variant)	not provided	GBenign
Select item 1283987	NM_015692.5(CPAMD8):c.504+206del	CPAMD8	Deletion (intron variant)	not provided	GBenign
Select item 1228277	NM_015692.5(CPAMD8):c.504+190G>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253496	NM_015692.5(CPAMD8):c.504+158C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274527	NM_015692.5(CPAMD8):c.487-172C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294623	NM_015692.5(CPAMD8):c.372C>T (p.Asp124=)	CPAMD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1226504	NM_015692.5(CPAMD8):c.268-63C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264623	NM_015692.5(CPAMD8):c.268-81C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269395	NM_015692.5(CPAMD8):c.267+166C>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1027997	NM_015692.5(CPAMD8):c.173G>T (p.Arg58Met)	CPAMD8 (R58M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1244150	NM_015692.5(CPAMD8):c.93-37G>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2