ClinVar for Gene (Select 64403) - ClinVar

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Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265289	NM_144985.4(CDH24):c.1975G>A (p.Ala659Thr)	CDH24 (A697T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265288	NM_144985.4(CDH24):c.1382C>T (p.Ser461Leu)	CDH24 (S461L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265287	NM_144985.4(CDH24):c.2233T>G (p.Ser745Ala)	CDH24 (S783A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265286	NM_144985.4(CDH24):c.77G>A (p.Arg26Gln)	CDH24 (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265285	NM_144985.4(CDH24):c.1900G>A (p.Val634Ile)	CDH24 (V634I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265284	NM_144985.4(CDH24):c.1193C>T (p.Ala398Val)	CDH24 (A398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265283	NM_144985.4(CDH24):c.1747G>A (p.Gly583Ser)	CDH24 (G583S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265282	NM_144985.4(CDH24):c.1682G>T (p.Trp561Leu)	CDH24 (W599L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265281	NM_144985.4(CDH24):c.947G>A (p.Arg316Gln)	CDH24 (R316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265280	NM_144985.4(CDH24):c.271G>A (p.Val91Ile)	CDH24 (V91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141242	NM_144985.4(CDH24):c.95G>A (p.Arg32Gln)	CDH24 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141241	NM_144985.4(CDH24):c.890G>A (p.Ser297Asn)	CDH24 (S297N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141240	NM_144985.4(CDH24):c.743C>T (p.Thr248Met)	CDH24 (T248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141239	NM_144985.4(CDH24):c.658C>A (p.Gln220Lys)	CDH24 (Q220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141238	NM_144985.4(CDH24):c.2341C>A (p.Pro781Thr)	CDH24 (P819T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141237	NM_144985.4(CDH24):c.2332C>T (p.Pro778Ser)	CDH24 (P778S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141236	NM_144985.4(CDH24):c.2272C>T (p.Pro758Ser)	CDH24 (P758S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141235	NM_144985.4(CDH24):c.221G>A (p.Arg74Gln)	CDH24 (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141234	NM_144985.4(CDH24):c.2056C>T (p.Pro686Ser)	CDH24 (P686S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141233	NM_144985.4(CDH24):c.1807G>A (p.Ala603Thr)	CDH24 (A641T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141232	NM_144985.4(CDH24):c.1789G>A (p.Ala597Thr)	CDH24 (A635T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141231	NM_144985.4(CDH24):c.1628G>A (p.Arg543His)	CDH24 (R581H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141230	NM_144985.4(CDH24):c.1411G>C (p.Asp471His)	CDH24 (D509H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141229	NM_144985.4(CDH24):c.1363+461C>T	CDH24 (P479S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3141228	NM_144985.4(CDH24):c.1324C>T (p.Arg442Cys)	CDH24 (R442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141227	NM_144985.4(CDH24):c.1084C>T (p.Arg362Cys)	CDH24 (R362C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141226	NM_144985.4(CDH24):c.1073T>A (p.Val358Glu)	CDH24 (V358E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141225	NM_144985.4(CDH24):c.1046A>G (p.Tyr349Cys)	CDH24 (Y349C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2620492	NM_144985.4(CDH24):c.734T>A (p.Val245Glu)	CDH24 (V245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616877	NM_144985.4(CDH24):c.1277C>T (p.Pro426Leu)	CDH24 (P426L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613869	NM_144985.4(CDH24):c.650G>A (p.Arg217Gln)	CDH24 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606076	NM_144985.4(CDH24):c.128G>A (p.Arg43Gln)	CDH24 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595552	NM_144985.4(CDH24):c.1877G>T (p.Arg626Leu)	CDH24 (R626L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593597	NM_144985.4(CDH24):c.800C>G (p.Ser267Cys)	CDH24 (S267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593491	NM_144985.4(CDH24):c.98A>G (p.Glu33Gly)	CDH24 (E33G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552699	NM_144985.4(CDH24):c.2152G>A (p.Gly718Ser)	CDH24 (G718S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531283	NM_144985.4(CDH24):c.845G>A (p.Arg282Gln)	CDH24 (R282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511170	NM_144985.4(CDH24):c.1694C>T (p.Ala565Val)	CDH24 (A565V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494010	NM_144985.4(CDH24):c.1691C>T (p.Pro564Leu)	CDH24 (P564L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477041	NM_144985.4(CDH24):c.494T>G (p.Val165Gly)	CDH24 (V165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463935	NM_144985.4(CDH24):c.356C>T (p.Ala119Val)	CDH24 (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2406483	NM_144985.4(CDH24):c.253G>A (p.Gly85Arg)	CDH24 (G85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399660	NM_144985.4(CDH24):c.994C>T (p.Arg332Cys)	CDH24 (R332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398919	NM_144985.4(CDH24):c.1501C>T (p.Arg501Trp)	CDH24 (R501W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392543	NM_144985.4(CDH24):c.1279G>A (p.Glu427Lys)	CDH24 (E427K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382723	NM_144985.4(CDH24):c.925A>T (p.Ile309Phe)	CDH24 (I309F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380824	NM_144985.4(CDH24):c.1085G>A (p.Arg362His)	CDH24 (R362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380039	NM_144985.4(CDH24):c.233G>A (p.Arg78His)	CDH24 (R78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370065	NM_144985.4(CDH24):c.2261G>A (p.Gly754Asp)	CDH24 (G792D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360395	NM_144985.4(CDH24):c.902G>A (p.Gly301Glu)	CDH24 (G301E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343075	NM_144985.4(CDH24):c.2015C>T (p.Ala672Val)	CDH24 (A710V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333503	NM_144985.4(CDH24):c.1667T>C (p.Ile556Thr)	CDH24 (I556T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323140	NM_144985.4(CDH24):c.1411G>A (p.Asp471Asn)	CDH24 (D509N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321797	NM_144985.4(CDH24):c.1177G>A (p.Val393Ile)	CDH24 (V393I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308384	NM_144985.4(CDH24):c.59G>A (p.Arg20His)	CDH24 (R20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301759	NM_144985.4(CDH24):c.1874G>A (p.Arg625Gln)	CDH24 (R625Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291552	NM_144985.4(CDH24):c.1643G>A (p.Arg548His)	CDH24 (R548H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287269	NM_144985.4(CDH24):c.1022C>T (p.Thr341Ile)	CDH24 (T341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279785	NM_144985.4(CDH24):c.2077C>G (p.Gln693Glu)	CDH24 (Q693E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241428	NM_144985.4(CDH24):c.1847C>G (p.Ala616Gly)	CDH24 (A616G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223354	NM_144985.4(CDH24):c.94C>T (p.Arg32Trp)	CDH24 (R32W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222197	NM_144985.4(CDH24):c.1274A>T (p.Gln425Leu)	CDH24 (Q425L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218324	NM_144985.4(CDH24):c.2098G>A (p.Ala700Thr)	CDH24 (A738T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217174	NM_144985.4(CDH24):c.2059C>T (p.Arg687Trp)	CDH24 (R725W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214369	NM_144985.4(CDH24):c.796T>G (p.Phe266Val)	CDH24 (F266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206645	NM_144985.4(CDH24):c.1363+390G>A	CDH24 (G455D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 980002	GRCh37/hg19 14q11.2(chr14:23457638-23698285)x3	C14orf93, PSMB11 +6 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 88