"GeneDx"[submitter] AND "DPP6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 144921	GRCh38/hg38 7q36.2(chr7:153460303-153790178)x3	DPP6	Copy number gain	See cases	GBenign
Select item 152404	GRCh38/hg38 7q36.2(chr7:153790178-153954188)x3	DPP6, LOC126860236	Copy number gain	See cases	GBenign
Select item 1278530	NM_001039350.3(DPP6):c.51+164380_51+164383del	DPP6	Deletion (intron variant)	not provided	GBenign
Select item 1232875	NM_001039350.3(DPP6):c.51+164385C>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274603	NM_001039350.3(DPP6):c.51+164472A>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279909	NM_001039350.3(DPP6):c.51+164609G>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183923	NM_130797.4(DPP6):c.-153C>T	DPP6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1259138	NM_130797.4(DPP6):c.-88del	DPP6	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1247688	NM_130797.4(DPP6):c.114C>T (p.Gly38=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1238658	NM_130797.4(DPP6):c.243+13del	DPP6	Deletion (intron variant)	not provided	GBenign
Select item 1249941	NM_130797.4(DPP6):c.243+86T>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250139	NM_130797.4(DPP6):c.243+172dup	DPP6	Duplication (intron variant)	not provided	GBenign
Select item 145727	GRCh38/hg38 7q36.2(chr7:154125945-154207385)x3	DPP6	Copy number gain	See cases	GBenign
Select item 1288968	NM_130797.4(DPP6):c.244-141195CCCCAG[8]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1282140	NM_130797.4(DPP6):c.244-141195CCCCAG[4]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1238099	NM_130797.4(DPP6):c.244-141195CCCCAG[7]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1231498	NM_130797.4(DPP6):c.244-141195CCCCAG[6]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1224672	NM_130797.4(DPP6):c.244-141092G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253122	NM_130797.4(DPP6):c.244-140444T>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288473	NM_130797.4(DPP6):c.358+30C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245433	NM_130797.4(DPP6):c.358+144T>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296314	NM_130797.4(DPP6):c.457+32G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175660	NM_130797.4(DPP6):c.458-261A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221222	NM_130797.4(DPP6):c.458-203A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297333	NM_130797.4(DPP6):c.458-159A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297332	NM_130797.4(DPP6):c.458-4A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232222	NM_130797.4(DPP6):c.552+131T>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282628	NM_130797.4(DPP6):c.552+229G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261841	NM_130797.4(DPP6):c.553-202T>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296405	NM_130797.4(DPP6):c.553-113C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237202	NM_130797.4(DPP6):c.627+20608T>C	DPP6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1226070	NM_130797.4(DPP6):c.627+20891C>T	DPP6 (S262L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1242344	NM_130797.4(DPP6):c.627+21113C>T	DPP6 (P336L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1225656	NM_130797.4(DPP6):c.627+21362G>A	DPP6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1221489	NM_130797.4(DPP6):c.628-306C>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175133	NM_130797.4(DPP6):c.657C>T (p.Tyr219=)	DPP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1296294	NM_130797.4(DPP6):c.680+74T>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285995	NM_130797.4(DPP6):c.680+221C>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244051	NM_130797.4(DPP6):c.680+238G>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273362	NM_130797.4(DPP6):c.680+263A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 145925	GRCh38/hg38 7q36.2(chr7:154659248-154774644)x1	DPP6, LOC121740705 +2 more	Copy number loss	See cases	GLikely benign
Select item 1258659	NM_130797.4(DPP6):c.681-291T>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296291	NM_130797.4(DPP6):c.762+98TG[12]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1222368	NM_130797.4(DPP6):c.762+98TG[11]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1235536	NM_130797.4(DPP6):c.762+140G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239836	NM_130797.4(DPP6):c.763-303G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297169	NM_130797.4(DPP6):c.813G>A (p.Gln271=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	Ventricular fibrillation, paroxysmal familial, 2 +2 more	GBenign
Select item 1233485	NM_130797.4(DPP6):c.883+9T>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263959	NM_130797.4(DPP6):c.883+295C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249216	NM_130797.4(DPP6):c.883+296G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296292	NM_130797.4(DPP6):c.945C>T (p.Tyr315=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1277275	NM_130797.4(DPP6):c.1039-223C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249585	NM_130797.4(DPP6):c.1039-221G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272324	NM_130797.4(DPP6):c.1136+40del	DPP6	Deletion (intron variant)	not provided	GBenign
Select item 1221449	NM_130797.4(DPP6):c.1260+103G>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178745	NM_130797.4(DPP6):c.1260+156C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281168	NM_130797.4(DPP6):c.1260+292C>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240588	NM_130797.4(DPP6):c.1260+332G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246781	NM_130797.4(DPP6):c.1261-188G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293210	NM_130797.4(DPP6):c.1261-49dup	DPP6	Duplication (intron variant)	not provided	GBenign
Select item 1251596	NM_130797.4(DPP6):c.1261-43_1261-34del	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1296295	NM_130797.4(DPP6):c.1261-48_1261-40del	DPP6	Deletion (intron variant)	not provided	GBenign
Select item 1247692	NM_130797.4(DPP6):c.1261-48G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251359	NM_130797.4(DPP6):c.1299+147A>G	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1259698	NM_130797.4(DPP6):c.1299+200A>G	DPP6 (Q436R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1246331	NM_130797.4(DPP6):c.1300-296G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259220	NM_130797.4(DPP6):c.1300-279C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244767	NM_130797.4(DPP6):c.1300-199T>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296298	NM_130797.4(DPP6):c.1300-100C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296375	NM_130797.4(DPP6):c.1300-18C>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296299	NM_130797.4(DPP6):c.1407+206C>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271551	NM_130797.4(DPP6):c.1408-37C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296296	NM_130797.4(DPP6):c.1500-110G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297367	NM_130797.4(DPP6):c.1547+93C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221175	NM_130797.4(DPP6):c.1547+310C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245884	NM_130797.4(DPP6):c.1547+311G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245596	NM_130797.4(DPP6):c.1548-65G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270075	NM_130797.4(DPP6):c.1666+86A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297335	NM_130797.4(DPP6):c.1666+89G>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296301	NM_130797.4(DPP6):c.1666+181A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296300	NM_130797.4(DPP6):c.1666+189G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296302	NM_130797.4(DPP6):c.1667-84A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227944	NM_130797.4(DPP6):c.1667-68_1667-64dup	DPP6	Duplication (intron variant)	not provided	GBenign
Select item 1296396	NM_130797.4(DPP6):c.1714+39C>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237771	NM_130797.4(DPP6):c.1715-163G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256861	NM_130797.4(DPP6):c.1715-154A>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257692	NM_130797.4(DPP6):c.1715-140T>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238603	NM_130797.4(DPP6):c.1715-139T>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256645	NM_130797.4(DPP6):c.1715-138T>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297336	NM_130797.4(DPP6):c.1813+86C>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257350	NM_130797.4(DPP6):c.1813+97A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221347	NM_130797.4(DPP6):c.1813+168A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260210	NM_130797.4(DPP6):c.1813+265A>T	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign

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