CDH15[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
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 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	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 57288	GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1	ACSF3, ANKRD11 +77 more	Copy number loss	See cases	GPathogenic
Select item 151121	GRCh38/hg38 16q24.3(chr16:89079074-89287677)x3	ACSF3, ANKRD11 +23 more	Copy number gain	See cases	GUncertain significance
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 1686549	NM_004933.3(CDH15):c.22G>C (p.Val8Leu)	CDH15 (V8L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2364912	NM_004933.3(CDH15):c.45C>G (p.Ser15Arg)	CDH15 (S15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672663	NM_004933.3(CDH15):c.76A>C (p.Arg26=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2294269	NM_004933.3(CDH15):c.77G>A (p.Arg26Lys)	CDH15 (R26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686550	NM_004933.3(CDH15):c.100del (p.Trp34fs)	CDH15 (W34fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 210623	NM_004933.3(CDH15):c.107G>A (p.Arg36Gln)	CDH15 (R36Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 128642	NM_004933.3(CDH15):c.109G>T (p.Ala37Ser)	CDH15 (A37S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3141110	NM_004933.3(CDH15):c.110C>T (p.Ala37Val)	CDH15 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025587	NM_004933.3(CDH15):c.111G>A (p.Ala37=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2351962	NM_004933.3(CDH15):c.127G>A (p.Val43Met)	CDH15 (V43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872527	NM_004933.3(CDH15):c.127G>T (p.Val43Leu)	CDH15 (V43L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2588118	NM_004933.3(CDH15):c.130C>T (p.Arg44Trp)	CDH15 (R44W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299870	NM_004933.3(CDH15):c.131G>A (p.Arg44Gln)	CDH15 (R44Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 444387	NM_004933.3(CDH15):c.132G>T (p.Arg44=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514779	NM_004933.3(CDH15):c.152C>T (p.Pro51Leu)	CDH15 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 128643	NM_004933.3(CDH15):c.153G>A (p.Pro51=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2584664	NM_004933.3(CDH15):c.160G>T (p.Val54Leu)	CDH15 (V54L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 739776	NM_004933.3(CDH15):c.160G>A (p.Val54Ile)	CDH15 (V54I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1337506	NM_004933.3(CDH15):c.165C>T (p.Ser55=)	CDH15	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 128644	NM_004933.3(CDH15):c.171C>T (p.Asn57=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128645	NM_004933.3(CDH15):c.174C>T (p.His58=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 17642	NM_004933.3(CDH15):c.178C>T (p.Arg60Cys)	CDH15 (R60C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 3 +1 more	GLikely benign
Select item 2218907	NM_004933.3(CDH15):c.179G>A (p.Arg60His)	CDH15 (R60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1781118	NM_004933.3(CDH15):c.183C>T (p.Leu61=)	CDH15	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 744530	NM_004933.3(CDH15):c.210G>C (p.Ser70=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486358	NM_004933.3(CDH15):c.223C>A (p.Leu75Met)	CDH15 (L75M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 128640	NM_004933.3(CDH15):c.227G>A (p.Gly76Asp)	CDH15 (G76D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783745	NM_004933.3(CDH15):c.231C>T (p.Ser77=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3026436	NM_004933.3(CDH15):c.255C>A (p.Pro85=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729340	NM_004933.3(CDH15):c.255C>T (p.Pro85=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 128651	NM_004933.3(CDH15):c.264T>C (p.Asp88=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3242152	NM_004933.3(CDH15):c.274C>G (p.Arg92Gly)	CDH15 (R92G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 3	GUncertain significance
Select item 17643	NM_004933.3(CDH15):c.274C>T (p.Arg92Trp)	CDH15 (R92W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2518198	NM_004933.3(CDH15):c.275G>T (p.Arg92Leu)	CDH15 (R92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629850	NM_004933.3(CDH15):c.277G>A (p.Gly93Ser)	CDH15 (G93S)	Single nucleotide variant (missense variant)	CDH15-related disorder	GUncertain significance
Select item 2647021	NM_004933.3(CDH15):c.279C>G (p.Gly93=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337482	NM_004933.3(CDH15):c.280G>A (p.Val94Ile)	CDH15 (V94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879347	NM_004933.3(CDH15):c.291C>T (p.Ile97=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3265181	NM_004933.3(CDH15):c.320A>G (p.Asn107Ser)	CDH15 (N107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647022	NM_004933.3(CDH15):c.324C>G (p.Ala108=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319069	NM_004933.3(CDH15):c.328C>A (p.Leu110Met)	CDH15 (L110M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474749	NM_004933.3(CDH15):c.334C>T (p.Arg112Cys)	CDH15 (R112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291937	NM_004933.3(CDH15):c.364G>C (p.Ala122Pro)	CDH15 (A122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17644	NM_004933.3(CDH15):c.365C>T (p.Ala122Val)	CDH15 (A122V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3141124	NM_004933.3(CDH15):c.379C>G (p.Leu127Val)	CDH15 (L127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 128652	NM_004933.3(CDH15):c.387A>G (p.Gly129=)	CDH15	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 3 +2 more	GBenign/Likely benign
Select item 1336973	NM_004933.3(CDH15):c.402C>T (p.Asp134=)	CDH15	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2629984	NM_004933.3(CDH15):c.404C>A (p.Pro135His)	CDH15 (P135H)	Single nucleotide variant (missense variant)	CDH15-related disorder	GUncertain significance
Select item 1335229	NM_004933.3(CDH15):c.423A>G (p.Val141=)	CDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2545165	NM_004933.3(CDH15):c.461A>G (p.Gln154Arg)	CDH15 (Q154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1034132	NM_004933.3(CDH15):c.472A>G (p.Thr158Ala)	CDH15 (T158A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 3 +1 more	GUncertain significance
Select item 3141126	NM_004933.3(CDH15):c.479G>A (p.Arg160His)	CDH15 (R160H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1683624	NM_004933.3(CDH15):c.479G>T (p.Arg160Leu)	CDH15 (R160L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 3	GUncertain significance
Select item 2439858	NM_004933.3(CDH15):c.481G>T (p.Val161Leu)	CDH15 (V161L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027242	NM_004933.3(CDH15):c.487G>C (p.Glu163Gln)	CDH15 (E163Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633342	NM_004933.3(CDH15):c.520G>T (p.Ala174Ser)	CDH15 (A174S)	Single nucleotide variant (missense variant)	CDH15-related disorder	GUncertain significance
Select item 808143	NM_004933.3(CDH15):c.541G>A (p.Asp181Asn)	CDH15 (D181N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323003	NM_004933.3(CDH15):c.543C>A (p.Asp181Glu)	CDH15 (D181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260791	NM_004933.3(CDH15):c.549G>T (p.Glu183Asp)	CDH15 (E183D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1335230	NM_004933.3(CDH15):c.550A>T (p.Thr184Ser)	CDH15 (T184S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2222238	NM_004933.3(CDH15):c.551C>G (p.Thr184Arg)	CDH15 (T184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348241	NM_004933.3(CDH15):c.555C>G (p.Asp185Glu)	CDH15 (D185E)	Single nucleotide variant (missense variant)	CDH15-related disorder	GUncertain significance
Select item 2647023	NM_004933.3(CDH15):c.563C>A (p.Ala188Glu)	CDH15 (A188E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291869	NM_004933.3(CDH15):c.563C>T (p.Ala188Val)	CDH15 (A188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 803282	NM_004933.3(CDH15):c.568C>T (p.Arg190Trp)	CDH15 (R190W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2647024	NM_004933.3(CDH15):c.598G>C (p.Glu200Gln)	CDH15 (E200Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128653	NM_004933.3(CDH15):c.598G>A (p.Glu200Lys)	CDH15 (E200K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1098632	NM_004933.3(CDH15):c.607A>T (p.Ser203Cys)	CDH15 (S203C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 3	GUncertain significance

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