"GeneDx"[submitter] AND "NT5C2"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 1168446	NM_001351169.2(NT5C2):c.*313C>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1178021	NM_001351169.2(NT5C2):c.*285T>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 380852	NM_001351169.2(NT5C2):c.1647C>T (p.Asp549=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1309720	NM_001351169.2(NT5C2):c.1377C>A (p.Asp459Glu)	NT5C2 (D221E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1227615	NM_001351169.2(NT5C2):c.1273-24A>C	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293623	NM_001351169.2(NT5C2):c.1273-25G>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237292	NM_001351169.2(NT5C2):c.1272+73T>G	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295929	NM_001351169.2(NT5C2):c.1272+68_1272+71del	NT5C2	Deletion (intron variant)	not provided	GBenign
Select item 1295358	NM_001351169.2(NT5C2):c.1272+61C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295697	NM_001351169.2(NT5C2):c.1212-82T>C	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217475	NM_001351169.2(NT5C2):c.1212-142C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295356	NM_001351169.2(NT5C2):c.1211+202dup	NT5C2	Duplication (intron variant)	not provided	GBenign
Select item 1214241	NM_001351169.2(NT5C2):c.1211+197G>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667762	NM_001351169.2(NT5C2):c.1211+36C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380885	NM_001351169.2(NT5C2):c.1211+20C>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45 +2 more	GBenign
Select item 667744	NM_001351169.2(NT5C2):c.1160-24C>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232564	NM_001351169.2(NT5C2):c.1160-28C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667742	NM_001351169.2(NT5C2):c.1159+248C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667740	NM_001351169.2(NT5C2):c.1159+232_1159+236dup	NT5C2	Duplication (intron variant)	not provided	GBenign
Select item 1189739	NM_001351169.2(NT5C2):c.1159+137del	NT5C2	Deletion (intron variant)	not provided	GLikely benign
Select item 1224033	NM_001351169.2(NT5C2):c.989-224T>C	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255225	NM_001351169.2(NT5C2):c.988+226T>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179542	NM_001351169.2(NT5C2):c.921+89dup	NT5C2	Duplication (intron variant)	not provided	GBenign
Select item 1223236	NM_001351169.2(NT5C2):c.921+18T>G	NT5C2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1214685	NM_001351169.2(NT5C2):c.814-50C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205206	NM_001351169.2(NT5C2):c.814-232A>C	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235346	NM_001351169.2(NT5C2):c.813+40A>G	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667734	NM_001351169.2(NT5C2):c.813+26C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673890	NM_001351169.2(NT5C2):c.771+282_771+283del	NT5C2	Deletion (intron variant)	not provided	GBenign
Select item 388841	NM_001351169.2(NT5C2):c.771+18A>T	NT5C2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 667739	NM_001351169.2(NT5C2):c.688-75del	NT5C2	Deletion (intron variant)	not provided	GBenign
Select item 667737	NM_001351169.2(NT5C2):c.688-87T>G	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667735	NM_001351169.2(NT5C2):c.688-103G>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212664	NM_001351169.2(NT5C2):c.687+169_687+170insT	NT5C2	Insertion (intron variant)	not provided	GLikely benign
Select item 507244	NM_001351169.2(NT5C2):c.634-14T>G	NT5C2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1209471	NM_001351169.2(NT5C2):c.634-89G>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187936	NM_001351169.2(NT5C2):c.634-151G>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515143	NM_001351169.2(NT5C2):c.633+14G>A	NT5C2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 667538	NM_001351169.2(NT5C2):c.540-277A>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432907	NM_001351169.2(NT5C2):c.503TAG[1] (p.Val169del)	NT5C2 (V169del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 1213606	NM_001351169.2(NT5C2):c.481+59T>C	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217203	NM_001351169.2(NT5C2):c.390-118C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241855	NM_001351169.2(NT5C2):c.390-203dup	NT5C2	Duplication (intron variant)	not provided	GBenign
Select item 1257201	NM_001351169.2(NT5C2):c.390-189del	NT5C2	Deletion (intron variant)	not provided	GBenign
Select item 667537	NM_001351169.2(NT5C2):c.293+284G>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212561	NM_001351169.2(NT5C2):c.176-11T>A	NT5C2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 667733	NM_001351169.2(NT5C2):c.101+217_101+218del	NT5C2	Deletion (intron variant)	not provided	GBenign
Select item 380851	NM_001351169.2(NT5C2):c.7A>G (p.Thr3Ala)	NT5C2 (T3A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 513872	NM_001351169.2(NT5C2):c.-24-17A>G	NT5C2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1214778	NM_001351169.2(NT5C2):c.-24-99G>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237245	NM_001351169.2(NT5C2):c.-24-213G>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526318	NM_001351169.2(NT5C2):c.-168-8dup	NT5C2	Duplication (intron variant)	not provided	GBenign
Select item 1526317	NM_001351169.2(NT5C2):c.-168-27T>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380850	NM_001351169.2(NT5C2):c.-183G>C	NT5C2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 1526381	NC_000010.11:g.103193337T>C	NT5C2	Single nucleotide variant	not provided	GBenign
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 57