"GeneDx"[submitter] AND "NECTIN3"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 1282802	NM_015480.3(NECTIN3):c.15G>A (p.Leu5=)	NECTIN3	Single nucleotide variant (synonymous variant +1 more)	NECTIN3-related condition +1 more	GBenign
Select item 1263814	NM_015480.3(NECTIN3):c.160+89A>G	NECTIN3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1255168	NM_015480.3(NECTIN3):c.161-130TG[13]	NECTIN3	Microsatellite (intron variant)	not provided	GBenign
Select item 1239159	NM_015480.3(NECTIN3):c.161-130TG[12]	NECTIN3	Microsatellite (intron variant)	not provided	GBenign
Select item 1180040	NM_015480.3(NECTIN3):c.161-130TG[14]	NECTIN3	Microsatellite (intron variant)	not provided	GBenign
Select item 1231758	NM_015480.3(NECTIN3):c.918-255C>T	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238252	NM_001243288.2(NECTIN3):c.1110A>C (p.Arg370=)	NECTIN3	Single nucleotide variant (synonymous variant)	NECTIN3-related condition +1 more	GBenign
Select item 1232214	NM_001243288.2(NECTIN3):c.1139+93G>A	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231919	NM_001243288.2(NECTIN3):c.1221+106G>A	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240433	NM_001243288.2(NECTIN3):c.1222-114del	NECTIN3	Deletion (intron variant)	not provided	GBenign
Select item 1236850	NM_001243288.2(NECTIN3):c.1285-210A>T	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252378	NM_001243288.2(NECTIN3):c.1285-71G>A	NECTIN3	Single nucleotide variant (intron variant)	not provided	GBenign