"GeneDx"[submitter] AND "CBLN2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 1284185	NM_182511.4(CBLN2):c.*10C>T	CBLN2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1277122	NM_182511.4(CBLN2):c.357+141C>A	CBLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233144	NM_182511.4(CBLN2):c.219G>A (p.Ser73=)	CBLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1250060	NM_182511.4(CBLN2):c.75G>T (p.Pro25=)	CBLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1247859	NM_182511.4(CBLN2):c.-85A>G	CBLN2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1282546	NM_182511.4(CBLN2):c.-115C>G	CBLN2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1179251	NM_182511.4(CBLN2):c.-166-77G>A	CBLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316642	NM_182511.4(CBLN2):c.-166-135C>A	CBLN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261360	NM_182511.4(CBLN2):c.-166-188G>T	CBLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268943	NM_182511.4(CBLN2):c.-166-331C>T	CBLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253575	GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	SOCS6, SERPINB10 +58 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic