"GeneDx"[submitter] AND "CDH7"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	ADNP2, ALPK2 +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	KCNG2, KDSR +373 more	Copy number loss	See cases	GPathogenic
Select item 1179601	NM_004361.5(CDH7):c.-173C>A	CDH7	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1243326	NM_004361.5(CDH7):c.210+52G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269162	NM_004361.5(CDH7):c.210+56T>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294757	NM_004361.5(CDH7):c.210+205A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277699	NM_004361.5(CDH7):c.211-130C>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244452	NM_004361.5(CDH7):c.477G>A (p.Thr159=)	CDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768939	NM_004361.5(CDH7):c.489C>G (p.Pro163=)	CDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1282023	NM_004361.5(CDH7):c.506-307A>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224024	NM_004361.5(CDH7):c.626-303A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274041	NM_004361.5(CDH7):c.626-158C>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248353	NM_004361.5(CDH7):c.626-74C>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261986	NM_004361.5(CDH7):c.687C>T (p.Val229=)	CDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1270991	NM_004361.5(CDH7):c.793+177G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275553	NM_004361.5(CDH7):c.794-83A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253145	NM_004361.5(CDH7):c.981+106del	CDH7	Deletion (intron variant)	not provided	GBenign
Select item 1294807	NM_004361.5(CDH7):c.981+132A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257555	NM_004361.5(CDH7):c.982-228G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273682	NM_004361.5(CDH7):c.1110T>C (p.Asp370=)	CDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1276045	NM_004361.5(CDH7):c.1372+312G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225905	NM_004361.5(CDH7):c.1373-226T>C	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297970	NM_004361.5(CDH7):c.1495-300G>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251535	NM_004361.5(CDH7):c.1612+22C>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294849	NM_004361.5(CDH7):c.1612+24A>T	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269871	NM_004361.5(CDH7):c.1612+81T>C	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252647	NM_004361.5(CDH7):c.1612+188T>A	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258791	NM_004361.5(CDH7):c.1612+296A>G	CDH7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294828	NM_004361.5(CDH7):c.1727A>G (p.Asn576Ser)	CDH7 (N576S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1295063	NM_004361.5(CDH7):c.1851C>T (p.Val617=)	CDH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252353	NM_004361.5(CDH7):c.1864+225A>G	CDH7	Single nucleotide variant (3 prime UTR variant +1 more)	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 253425	GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1	CDH19, CDH7 +29 more	Copy number loss	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

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Items: 36