"GeneDx"[submitter] AND "NTN5"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1265427	NM_145807.4(NTN5):c.*194A>G	NTN5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1235170	NM_145807.4(NTN5):c.1025-75C>T	NTN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273196	NM_145807.4(NTN5):c.971-62G>T	NTN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273998	NM_145807.4(NTN5):c.970+39C>T	NTN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268443	NM_145807.4(NTN5):c.820+58G>T	NTN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178056	NM_145807.4(NTN5):c.820+57G>A	NTN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268850	NM_145807.4(NTN5):c.820+50C>T	NTN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247217	NM_145807.4(NTN5):c.651C>T (p.His217=)	NTN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288347	NM_145807.4(NTN5):c.632-158A>G	NTN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227323	NM_145807.4(NTN5):c.632-206G>A	NTN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240685	NM_145807.4(NTN5):c.573G>A (p.Pro191=)	NTN5	Single nucleotide variant (synonymous variant)	not provided	GBenign