ClinVar for Gene (Select 1016) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265210	NM_004934.5(CDH18):c.201G>T (p.Met67Ile)	CDH18 (M67I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265209	NM_004934.5(CDH18):c.871A>C (p.Lys291Gln)	CDH18 (K291Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265208	NM_004934.5(CDH18):c.1867G>A (p.Val623Ile)	CDH18 (V623I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3265207	NM_004934.5(CDH18):c.1282G>A (p.Asp428Asn)	CDH18 (D428N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265206	NM_004934.5(CDH18):c.1349A>G (p.Glu450Gly)	CDH18 (E450G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265205	NM_004934.5(CDH18):c.1870C>A (p.Leu624Ile)	CDH18 (L401I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3141167	NM_004934.5(CDH18):c.482A>C (p.Asp161Ala)	CDH18 (D161A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141166	NM_004934.5(CDH18):c.2248A>G (p.Ile750Val)	CDH18 (I750V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141165	NM_004934.5(CDH18):c.1910G>A (p.Arg637Lys)	CDH18 (R637K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141164	NM_004934.5(CDH18):c.1484T>C (p.Ile495Thr)	CDH18 (I495T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141163	NM_004934.5(CDH18):c.1070G>A (p.Arg357His)	CDH18 (R357H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 3044783	NM_004934.5(CDH18):c.1941A>C (p.Ser647=)	CDH18	Single nucleotide variant (3 prime UTR variant +1 more)	CDH18-related disorder	GLikely benign
Select item 3040449	NM_004934.5(CDH18):c.1417A>C (p.Thr473Pro)	CDH18 (T250P +1 more)	Single nucleotide variant (missense variant)	CDH18-related disorder	GLikely benign
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684410	GRCh37/hg19 5p14.3(chr5:19193287-19888779)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2618169	NM_004934.5(CDH18):c.1404G>T (p.Leu468Phe)	CDH18 (L245F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602307	NM_004934.5(CDH18):c.1673G>C (p.Arg558Pro)	CDH18 (R558P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597695	NM_004934.5(CDH18):c.700G>A (p.Val234Ile)	CDH18 (V11I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568557	NM_004934.5(CDH18):c.1774G>A (p.Glu592Lys)	CDH18 (E369K +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2546890	NM_004934.5(CDH18):c.196C>G (p.His66Asp)	CDH18 (H66D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544689	NM_004934.5(CDH18):c.2322T>G (p.Phe774Leu)	CDH18 (F551L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2541306	NM_004934.5(CDH18):c.1238C>G (p.Thr413Ser)	CDH18 (T190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519744	NM_004934.5(CDH18):c.436A>G (p.Ile146Val)	CDH18 (I146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513229	NM_004934.5(CDH18):c.1566G>T (p.Arg522Ser)	CDH18 (R299S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483553	NM_004934.5(CDH18):c.2273C>T (p.Thr758Ile)	CDH18 (T535I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2380091	NM_004934.5(CDH18):c.1553C>A (p.Ala518Asp)	CDH18 (A295D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367817	NM_004934.5(CDH18):c.1459G>A (p.Glu487Lys)	CDH18 (E487K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357843	NM_004934.5(CDH18):c.1918A>G (p.Lys640Glu)	CDH18 (K417E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2350984	NM_004934.5(CDH18):c.1201G>A (p.Val401Ile)	CDH18 (V401I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331007	NM_004934.5(CDH18):c.752C>A (p.Ser251Tyr)	CDH18 (S28Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327204	NM_004934.5(CDH18):c.1460A>C (p.Glu487Ala)	CDH18 (E264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319814	NM_004934.5(CDH18):c.1081T>G (p.Leu361Val)	CDH18 (L138V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310337	NM_004934.5(CDH18):c.1256A>T (p.Tyr419Phe)	CDH18 (Y196F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306448	NM_004934.5(CDH18):c.4A>G (p.Lys2Glu)	CDH18 (K2E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303637	NM_004934.5(CDH18):c.1322G>T (p.Arg441Met)	CDH18 (R218M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268614	NM_004934.5(CDH18):c.922A>C (p.Ile308Leu)	CDH18 (I308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268452	NM_004934.5(CDH18):c.1844C>G (p.Ala615Gly)	CDH18 (A392G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808594	GRCh37/hg19 5p14.3(chr5:19761078-19935453)x1	CDH18	Copy number loss	not provided	GUncertain significance
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1807840	GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1	ANKH, ANKRD33B +23 more	Copy number loss	not provided	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1527152	GRCh37/hg19 5p14.3(chr5:19761077-19935453)	CDH18	Copy number loss	not specified	GUncertain significance
Select item 1527151	GRCh37/hg19 5p14.3(chr5:19054487-19790210)	CDH18	Copy number loss	not specified	GUncertain significance
Select item 1341161	GRCh37/hg19 5p14.3(chr5:19358683-19475723)x1	CDH18	Copy number loss	not provided	GLikely benign
Select item 1340000	GRCh37/hg19 5p14.3(chr5:19618602-19796859)x1	CDH18	Copy number loss	not provided	GLikely benign
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 983169	GRCh37/hg19 5p14.3(chr5:19101001-20164000)x3	CDH18	Copy number gain	See cases	GUncertain significance
Select item 979513	GRCh37/hg19 5p15.1-14.2(chr5:16741484-23963898)x3	LINC02899, MYO10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979510	GRCh37/hg19 5p14.3-13.3(chr5:19324003-30115028)x3	CDH9, LINC02899 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979509	GRCh37/hg19 5p14.3(chr5:18767376-19609920)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 814669	GRCh37/hg19 5p14.3(chr5:19986426-20075896)x1	CDH18	Copy number loss	not provided	GUncertain significance
Select item 814668	GRCh37/hg19 5p14.3(chr5:18757065-20075896)x1	CDH18	Copy number loss	not provided	GUncertain significance
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 781850	NM_004934.5(CDH18):c.582C>T (p.Ser194=)	CDH18	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 767995	NM_004934.5(CDH18):c.1158T>G (p.Pro386=)	CDH18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686848	GRCh37/hg19 5p14.3(chr5:19423704-19573881)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 686674	GRCh37/hg19 5p14.3(chr5:19423704-19573881)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 686607	GRCh37/hg19 5p14.3(chr5:19871350-20575653)x1	CDH18	Copy number loss	not provided	GUncertain significance
Select item 686387	GRCh37/hg19 5p14.3(chr5:19423256-19573881)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 686018	GRCh37/hg19 5p14.3(chr5:19071213-20241053)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 685112	GRCh37/hg19 5p14.3(chr5:19362695-19476290)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 617842	NM_004934.5(CDH18):c.991T>C (p.Leu331=)	CDH18	Single nucleotide variant (synonymous variant)	Childhood apraxia of speech	GUncertain significance
Select item 563049	GRCh37/hg19 5p14.3(chr5:19923790-20280559)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 563048	GRCh37/hg19 5p14.3(chr5:19917481-21131547)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 563047	GRCh37/hg19 5p14.3(chr5:19870847-20569900)x1	CDH18	Copy number loss	not provided	GUncertain significance
Select item 563046	GRCh37/hg19 5p14.3(chr5:19676979-22800583)x1	CDH12, CDH18	Copy number loss	not provided	GUncertain significance
Select item 563045	GRCh37/hg19 5p14.3(chr5:19341652-19599661)x3	CDH18	Copy number gain	not provided	GLikely benign
Select item 563044	GRCh37/hg19 5p14.3(chr5:18997080-20081779)x3	CDH18	Copy number gain	not provided	GLikely benign
Select item 563043	GRCh37/hg19 5p14.3(chr5:18581958-20951033)x3	CDH18	Copy number gain	not provided	GUncertain significance
Select item 563031	GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1	RETREG1, ANKRD33B +31 more	Copy number loss	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 446326	GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 443692	GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 443691	GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3	ADAMTS16, ADCY2 +62 more	Copy number gain	See cases	GPathogenic
Select item 443451	GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 443058	GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 442928	GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1	CTNND2, DAP +67 more	Copy number loss	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 395597	GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 394369	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	ADAMTS12, ADAMTS16 +82 more	Copy number loss	See cases	GPathogenic
Select item 393852	GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3	ADAMTS16, ADCY2 +39 more	Copy number gain	See cases	GPathogenic
Select item 393768	GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic
Select item 242852	GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3	RETREG1, SDHA +62 more	Copy number gain	not provided	GPathogenic

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