"GeneDx"[submitter] AND "RXFP2"[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	LINC00426, LINC00427 +118 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1263119	NC_000013.11:g.31739293_31739295dup	RXFP2	Duplication	not provided	GBenign
Select item 1257281	NM_130806.5(RXFP2):c.95-283T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294621	NM_130806.5(RXFP2):c.95-178G>A	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239108	NM_130806.5(RXFP2):c.95-103C>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229034	NM_130806.5(RXFP2):c.241+15C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283483	NM_130806.5(RXFP2):c.241+120T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277268	NM_130806.5(RXFP2):c.241+139T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268067	NM_130806.5(RXFP2):c.242-21A>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233360	NM_130806.5(RXFP2):c.261G>A (p.Ala87=)	RXFP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1226064	NM_130806.5(RXFP2):c.319+102C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239917	NM_130806.5(RXFP2):c.320-328_320-325del	RXFP2	Deletion (intron variant)	not provided	GBenign
Select item 1268904	NM_130806.5(RXFP2):c.320-162G>A	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294600	NM_130806.5(RXFP2):c.425+103C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258695	NM_130806.5(RXFP2):c.425+186T>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229857	NM_130806.5(RXFP2):c.425+282T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249399	NM_130806.5(RXFP2):c.425+301del	RXFP2	Deletion (intron variant)	not provided	GBenign
Select item 1252621	NM_130806.5(RXFP2):c.498-184T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227314	NM_130806.5(RXFP2):c.569+31T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278229	NM_130806.5(RXFP2):c.569+159C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287461	NM_130806.5(RXFP2):c.569+189A>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273620	NM_130806.5(RXFP2):c.786-222G>A	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250887	NM_130806.5(RXFP2):c.786-115_786-114insC	RXFP2	Insertion (intron variant)	not provided	GBenign
Select item 1229412	NM_130806.5(RXFP2):c.929+199A>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245355	NM_130806.5(RXFP2):c.930-241T>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286249	NM_130806.5(RXFP2):c.930-171C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220918	NM_130806.5(RXFP2):c.957A>G (p.Glu319=)	RXFP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1265009	NM_130806.5(RXFP2):c.993A>G (p.Leu331=)	RXFP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1291827	NM_130806.5(RXFP2):c.1002-4_1002-2dup	RXFP2	Duplication (splice acceptor variant)	not provided	GBenign
Select item 1264404	NM_130806.5(RXFP2):c.1002-3_1002-2dup	RXFP2	Duplication (splice acceptor variant)	not provided	GBenign
Select item 1247150	NM_130806.5(RXFP2):c.1074-42T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275569	NM_130806.5(RXFP2):c.1810A>G (p.Ile604Val)	RXFP2 (I580V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1287165	NM_130806.5(RXFP2):c.2005+95T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222754	NM_130806.5(RXFP2):c.2006-284dup	RXFP2	Duplication (intron variant)	not provided	GBenign
Select item 1231450	NM_130806.5(RXFP2):c.*176A>G	RXFP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38