"GeneDx"[submitter] AND "RPN2"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 1238363	NC_000020.11:g.37178722C>A	MROH8, RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249784	NC_000020.11:g.37178751A>T	MROH8, RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253465	NC_000020.11:g.37178834C>T	MROH8, RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272265	NM_002951.5(RPN2):c.13+241C>T	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318003	NM_002951.5(RPN2):c.14-109C>T	RPN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275370	NM_002951.5(RPN2):c.14-57C>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283229	NM_002951.5(RPN2):c.207+253G>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287971	NM_002951.5(RPN2):c.208-117T>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170890	NM_002951.5(RPN2):c.303+14C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +1 more	GBenign
Select item 1256966	NM_002951.5(RPN2):c.303+142_303+143dup	RPN2	Duplication (intron variant)	not provided	GBenign
Select item 1238031	NM_002951.5(RPN2):c.479+54G>T	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258726	NM_002951.5(RPN2):c.479+214A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253101	NM_002951.5(RPN2):c.690+146A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294113	NM_002951.5(RPN2):c.691-178A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170206	NM_002951.5(RPN2):c.691-19C>T	RPN2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +1 more	GBenign
Select item 1170271	NM_002951.5(RPN2):c.841G>A (p.Asp281Asn)	RPN2 (D124N +3 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1257123	NM_002951.5(RPN2):c.867+37A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249130	NM_002951.5(RPN2):c.868-78T>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242324	NM_002951.5(RPN2):c.986+23T>C	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294108	NM_002951.5(RPN2):c.986+188G>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265219	NM_002951.5(RPN2):c.1093-230dup	RPN2	Duplication (intron variant)	not provided	GBenign
Select item 1101005	NM_002951.5(RPN2):c.1121G>A (p.Gly374Asp)	RPN2 (G217D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1221302	NM_002951.5(RPN2):c.1184+23A>C	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232171	NM_002951.5(RPN2):c.1184+78G>C	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251744	NM_002951.5(RPN2):c.1184+114A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233018	NM_002951.5(RPN2):c.1185-82A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317719	NM_002951.5(RPN2):c.1299+119C>T	RPN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231746	NM_002951.5(RPN2):c.1494+235_1494+236insACCTT	RPN2	Insertion (intron variant)	not provided	GBenign
Select item 1279827	NM_002951.5(RPN2):c.1582-269G>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316179	NM_002951.5(RPN2):c.1582-42G>A	RPN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280693	NM_002951.5(RPN2):c.1753+46T>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183719	NM_002951.5(RPN2):c.1753+210T>C	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267014	NM_002951.5(RPN2):c.1754-254A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683687	NM_002951.5(RPN2):c.1825C>T (p.Leu609=)	RPN2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation +1 more	GBenign
Select item 1245040	NM_002951.5(RPN2):c.1883+239G>A	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278493	NM_002951.5(RPN2):c.1883+250del	RPN2	Deletion (intron variant)	not provided	GBenign
Select item 1226372	NM_002951.5(RPN2):c.1883+1953A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286667	NM_002951.5(RPN2):c.1884-168A>G	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275305	NM_002951.5(RPN2):c.1884-87C>T	RPN2	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 40