"GeneDx"[submitter] AND "VSX2"[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 432601	NM_182894.3(VSX2):c.91G>A (p.Gly31Arg)	VSX2 (G31R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 167839	NM_182894.3(VSX2):c.299C>A (p.Pro100Gln)	VSX2 (P100Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1212514	NM_182894.3(VSX2):c.370+301G>A	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201623	NM_182894.3(VSX2):c.371-99G>A	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181311	NM_182894.3(VSX2):c.455+175G>C	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264961	NM_182894.3(VSX2):c.455+216C>T	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280195	NM_182894.3(VSX2):c.456-283GT[22]	VSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1242660	NM_182894.3(VSX2):c.456-283GT[23]	VSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1237333	NM_182894.3(VSX2):c.456-283GT[21]	VSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1237238	NM_182894.3(VSX2):c.456-283GT[20]	VSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1219016	NM_182894.3(VSX2):c.456-283GT[15]	VSX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1217991	NM_182894.3(VSX2):c.456-246_456-173del	VSX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1187021	NM_182894.3(VSX2):c.456-246T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204698	NM_182894.3(VSX2):c.456-244_456-243insAAA	VSX2	Insertion (intron variant)	not provided	GLikely benign
Select item 1180997	NM_182894.3(VSX2):c.456-244T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290156	NM_182894.3(VSX2):c.456-242T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248962	NM_182894.3(VSX2):c.456-240T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235840	NM_182894.3(VSX2):c.456-238T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240708	NM_182894.3(VSX2):c.456-233A>G	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203428	NM_182894.3(VSX2):c.456-233A>C	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240440	NM_182894.3(VSX2):c.456-221A>G	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283157	NM_182894.3(VSX2):c.456-219GT[14]	VSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1265398	NM_182894.3(VSX2):c.456-219GT[17]	VSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1264452	NM_182894.3(VSX2):c.456-219GT[15]	VSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1204326	NM_182894.3(VSX2):c.456-219GT[16]	VSX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1196891	NM_182894.3(VSX2):c.456-219GT[10]	VSX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1206912	NM_182894.3(VSX2):c.456-218T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213485	NM_182894.3(VSX2):c.456-216T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198973	NM_182894.3(VSX2):c.456-214T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197219	NM_182894.3(VSX2):c.456-212T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230547	NM_182894.3(VSX2):c.456-190_456-181del	VSX2	Deletion (intron variant)	not provided	GBenign
Select item 1217575	NM_182894.3(VSX2):c.456-190_456-177del	VSX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1209498	NM_182894.3(VSX2):c.456-188_456-177del	VSX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1187193	NM_182894.3(VSX2):c.456-186_456-181del	VSX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1254884	NM_182894.3(VSX2):c.456-183GA[14]	VSX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1242079	NM_182894.3(VSX2):c.456-184T>A	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236632	NM_182894.3(VSX2):c.456-183GA[12]	VSX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1213155	NM_182894.3(VSX2):c.456-183GA[10]	VSX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1251157	NM_182894.3(VSX2):c.456-182A>T	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205248	NM_182894.3(VSX2):c.456-165G>C	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261423	NM_182894.3(VSX2):c.456-162_456-161insCA	VSX2	Insertion (intron variant)	not provided	GBenign
Select item 1178580	NM_182894.3(VSX2):c.456-163G>C	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188262	NM_182894.3(VSX2):c.456-161G>C	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197516	NM_182894.3(VSX2):c.456-157_456-154del	VSX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1287733	NM_182894.3(VSX2):c.456-157_456-156del	VSX2	Deletion (intron variant)	not provided	GBenign
Select item 1266574	NM_182894.3(VSX2):c.456-157C>G	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217103	NM_182894.3(VSX2):c.456-156AG[11]	VSX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1707119	NM_182894.3(VSX2):c.456-156AG[6]	VSX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1236669	NM_182894.3(VSX2):c.456-140_456-139insCA	VSX2	Insertion (intron variant)	not provided	GBenign
Select item 167840	NM_182894.3(VSX2):c.471C>T (p.Ser157=)	VSX2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 289848	NM_182894.3(VSX2):c.522C>T (p.Asp174=)	VSX2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1249851	NM_182894.3(VSX2):c.579+276G>A	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188366	NM_182894.3(VSX2):c.580-45A>C	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187492	NM_182894.3(VSX2):c.580-44G>A	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 14861	NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)	VSX2 (R200P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1179439	NM_182894.3(VSX2):c.760+33dup	VSX2	Duplication (intron variant)	not provided	GBenign
Select item 675190	NM_182894.3(VSX2):c.760+74C>G	VSX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224673	NM_182894.3(VSX2):c.760+86G>A	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286614	NM_182894.3(VSX2):c.760+149C>T	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230543	NM_182894.3(VSX2):c.760+209A>C	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252600	NM_182894.3(VSX2):c.760+225A>G	VSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 197896	NM_182894.3(VSX2):c.831G>A (p.Leu277=)	VSX2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 314200	NM_182894.3(VSX2):c.863G>A (p.Arg288Gln)	VSX2 (R288Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 197895	NM_182894.3(VSX2):c.871G>A (p.Asp291Asn)	VSX2 (D291N)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +3 more	GBenign
Select item 536260	NM_182894.3(VSX2):c.1013AGG[5] (p.Glu341dup)	VSX2	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 314206	NM_182894.3(VSX2):c.*39C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GBenign/Likely benign
Select item 314208	NM_182894.3(VSX2):c.*54G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314211	NM_182894.3(VSX2):c.*261G>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GLikely benign
Select item 887123	NM_182894.3(VSX2):c.*291A>T	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314212	NM_182894.3(VSX2):c.*455C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GBenign
Select item 314218	NM_182894.3(VSX2):c.*1074C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +2 more	GBenign/Likely benign
Select item 314219	NM_182894.3(VSX2):c.*1161C>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity
Select item 887196	NM_182894.3(VSX2):c.*1252C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314221	NM_182894.3(VSX2):c.*1302G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GBenign
Select item 314222	NM_182894.3(VSX2):c.*1311G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314224	NM_182894.3(VSX2):c.*1377C>T	VSX2	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity

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Items: 77