"GeneDx"[submitter] AND "CDH15"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 59540	GRCh38/hg38 16q24.3(chr16:89154317-89195486)x1	ACSF3, CDH15 +7 more	Copy number loss	See cases	GPathogenic
Select item 451434	NM_004933.3(CDH15):c.2T>A (p.Met1Lys)	CDH15 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128642	NM_004933.3(CDH15):c.109G>T (p.Ala37Ser)	CDH15 (A37S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 128643	NM_004933.3(CDH15):c.153G>A (p.Pro51=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 128651	NM_004933.3(CDH15):c.264T>C (p.Asp88=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 279742	NM_004933.3(CDH15):c.445C>T (p.Arg149Trp)	CDH15 (R149W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 452738	NM_004933.3(CDH15):c.641T>G (p.Val214Gly)	CDH15 (V214G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128641	NM_004933.3(CDH15):c.1023G>A (p.Ser341=)	CDH15	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 3 +1 more	GBenign
Select item 421818	NM_004933.3(CDH15):c.1125C>G (p.Phe375Leu)	CDH15 (F375L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420376	NM_004933.3(CDH15):c.1232+2T>A	CDH15	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 452290	NM_004933.3(CDH15):c.1582C>T (p.Leu528Phe)	CDH15 (L528F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423022	NM_004933.3(CDH15):c.1588del (p.Arg530fs)	CDH15 (R530fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 452625	NM_004933.3(CDH15):c.1711C>T (p.Arg571Cys)	CDH15, LOC130059794 (R571C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128646	NM_004933.3(CDH15):c.1750A>C (p.Lys584Gln)	CDH15, LOC130059794 (K584Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 128647	NM_004933.3(CDH15):c.1971A>G (p.Gln657=)	CDH15	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 3 +1 more	GBenign
Select item 421822	NM_004933.3(CDH15):c.2167G>C (p.Asp723His)	CDH15 (D723H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422658	NM_004933.3(CDH15):c.2227G>A (p.Gly743Ser)	CDH15 (G743S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 279743	NM_004933.3(CDH15):c.2231C>T (p.Ser744Leu)	CDH15 (S744L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377635	NM_004933.3(CDH15):c.2324G>A (p.Arg775Gln)	CDH15 (R775Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 253986	GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3	ACSF3, ANKRD11 +24 more	Copy number gain	See cases	GUncertain significance
Select item 253753	GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3	ACSF3, APRT +23 more	Copy number gain	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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Items: 25