"GeneDx"[submitter] AND "SCP2"[gene] - ClinVar

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Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 1190574	NC_000001.11:g.52926925G>T	SCP2	Single nucleotide variant	not provided	GLikely benign
Select item 1235854	NC_000001.11:g.52927236A>G	LOC129930558, SCP2	Single nucleotide variant	not provided	GBenign
Select item 1296645	NM_002979.5(SCP2):c.-80A>T	LOC129930558, SCP2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1227815	NM_002979.5(SCP2):c.-57C>T	SCP2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1219752	NM_002979.5(SCP2):c.70-278_70-277insCT	SCP2	Insertion (intron variant)	not provided	GLikely benign
Select item 1199502	NM_002979.5(SCP2):c.70-277A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227208	NM_002979.5(SCP2):c.70-200A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174397	NM_002979.5(SCP2):c.70-66G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1687664	NM_002979.5(SCP2):c.70-48_70-47dup	SCP2	Duplication (intron variant)	not provided	GLikely benign
Select item 1262646	NM_002979.5(SCP2):c.70-50_70-47dup	SCP2	Duplication (intron variant)	not provided	GBenign
Select item 1197564	NM_002979.5(SCP2):c.70-47dup	SCP2	Duplication (intron variant)	not provided	GLikely benign
Select item 801491	NM_002979.5(SCP2):c.70-47del	SCP2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1187530	NM_002979.5(SCP2):c.70-46T>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220469	NM_002979.5(SCP2):c.127+63A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253737	NM_002979.5(SCP2):c.200-45C>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259435	NM_002979.5(SCP2):c.331+163G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181853	NM_002979.5(SCP2):c.331+285A>C	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241963	NM_002979.5(SCP2):c.332-311G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197093	NM_002979.5(SCP2):c.332-184G>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1705002	NM_002979.5(SCP2):c.332-23A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249943	NM_002979.5(SCP2):c.396+238dup	SCP2	Duplication (intron variant)	not provided	GBenign
Select item 1188073	NM_002979.5(SCP2):c.397-34C>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178835	NM_002979.5(SCP2):c.523+220A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222794	NM_002979.5(SCP2):c.523+288dup	SCP2	Duplication (intron variant)	not provided	GBenign
Select item 284473	NM_002979.5(SCP2):c.609A>G (p.Glu203=)	SCP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1213489	NM_002979.5(SCP2):c.674+181A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206772	NM_002979.5(SCP2):c.674+286G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186243	NM_002979.5(SCP2):c.675-237dup	SCP2	Duplication (intron variant)	not provided	GLikely benign
Select item 1230482	NM_002979.5(SCP2):c.675-237del	SCP2	Deletion (intron variant)	not provided	GBenign
Select item 1296489	NM_002979.5(SCP2):c.675-95A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 500436	NM_002979.5(SCP2):c.675-6T>C	SCP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 286949	NM_002979.5(SCP2):c.687T>C (p.Asp229=)	SCP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1304982	NM_002979.5(SCP2):c.825+3A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1224757	NM_002979.5(SCP2):c.826-297A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275901	NM_002979.5(SCP2):c.826-100A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211917	NM_002979.5(SCP2):c.973+151G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203249	NM_002979.5(SCP2):c.973+312C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233194	NM_002979.5(SCP2):c.974-61A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230121	NM_002979.5(SCP2):c.974-43T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559025	NM_002979.5(SCP2):c.974-18C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559026	NM_002979.5(SCP2):c.987G>T (p.Thr329=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1276031	NM_002979.5(SCP2):c.1081+122A>T	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199999	NM_002979.5(SCP2):c.1081+214A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204049	NM_002979.5(SCP2):c.1081+5247C>T	SCP2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1212797	NM_002979.5(SCP2):c.1081+5248G>A	SCP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1277933	NM_002979.5(SCP2):c.1081+5373A>C	SCP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1310952	NM_002979.5(SCP2):c.1187G>A (p.Gly396Glu)	SCP2 (G315E +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 559027	NM_002979.5(SCP2):c.1224G>A (p.Pro408=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 559028	NM_002979.5(SCP2):c.1235+30G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210910	NM_002979.5(SCP2):c.1235+154C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286400	NM_002979.5(SCP2):c.1236-245C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281218	NM_002979.5(SCP2):c.1236-215C>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191022	NM_002979.5(SCP2):c.1236-210C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214887	NM_002979.5(SCP2):c.1236-172C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268370	NM_002979.5(SCP2):c.1236-101T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559029	NM_002979.5(SCP2):c.1236-16A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244997	NM_002979.5(SCP2):c.1338+77G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266878	NM_002979.5(SCP2):c.1338+79G>T	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218398	NM_002979.5(SCP2):c.1338+89T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277446	NM_002979.5(SCP2):c.1338+326T>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235954	NM_002979.5(SCP2):c.1339-282G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182353	NM_002979.5(SCP2):c.1339-266C>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234613	NM_002979.5(SCP2):c.1339-178G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559030	NM_002979.5(SCP2):c.1468+17C>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1263887	NM_002979.5(SCP2):c.1468+154C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200619	NM_002979.5(SCP2):c.1468+229T>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219098	NM_002979.5(SCP2):c.1469-142A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262598	NM_002979.5(SCP2):c.1469-107C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290761	NM_002979.5(SCP2):c.1469-93T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278989	NM_002979.5(SCP2):c.1548+159C>G	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204521	NM_002979.5(SCP2):c.1548+186C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256769	NM_002979.5(SCP2):c.1548+228G>C	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246515	NM_002979.5(SCP2):c.1549-287G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283498	NM_002979.5(SCP2):c.1549-264G>C	SCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559031	NM_002979.5(SCP2):c.*7C>A	SCP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1207687	NM_002979.5(SCP2):c.*56A>G	SCP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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Items: 77