CDH5[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 110

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	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 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 2473457	NM_001795.5(CDH5):c.25G>A (p.Ala9Thr)	CDH5 (A9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612852	NM_001795.5(CDH5):c.37G>A (p.Ala13Thr)	CDH5 (A13T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207529	NM_001795.5(CDH5):c.37G>T (p.Ala13Ser)	CDH5 (A13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141307	NM_001795.5(CDH5):c.52C>G (p.Leu18Val)	CDH5 (L18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509546	NM_001795.5(CDH5):c.61G>A (p.Ala21Thr)	CDH5 (A21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362672	NM_001795.5(CDH5):c.98G>A (p.Arg33Gln)	CDH5 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262706	NM_001795.5(CDH5):c.127C>G (p.Arg43Gly)	CDH5 (R43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141289	NM_001795.5(CDH5):c.131G>A (p.Arg44His)	CDH5 (R44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394280	NM_001795.5(CDH5):c.202G>A (p.Val68Ile)	CDH5 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141304	NM_001795.5(CDH5):c.229C>T (p.Arg77Cys)	CDH5 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689705	NM_001795.5(CDH5):c.265G>A (p.Val89Met)	CDH5 (V89M)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 3141305	NM_001795.5(CDH5):c.274G>A (p.Val92Ile)	CDH5 (V92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265321	NM_001795.5(CDH5):c.351C>A (p.His117Gln)	CDH5 (H117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256370	NM_001795.5(CDH5):c.385G>C (p.Glu129Gln)	CDH5 (E129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141306	NM_001795.5(CDH5):c.440A>T (p.Asn147Ile)	CDH5 (N147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265315	NM_001795.5(CDH5):c.458A>G (p.His153Arg)	CDH5 (H153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548877	NM_001795.5(CDH5):c.601G>T (p.Ala201Ser)	CDH5 (A201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141308	NM_001795.5(CDH5):c.620G>A (p.Arg207His)	CDH5 (R207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558054	NM_001795.5(CDH5):c.625A>G (p.Ile209Val)	CDH5 (I209V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141309	NM_001795.5(CDH5):c.635C>T (p.Thr212Met)	CDH5 (T212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594361	NM_001795.5(CDH5):c.676G>C (p.Val226Leu)	CDH5 (V226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395354	NM_001795.5(CDH5):c.706C>T (p.Arg236Trp)	CDH5 (R236W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374492	NM_001795.5(CDH5):c.730G>A (p.Val244Met)	CDH5 (V244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784343	NM_001795.5(CDH5):c.798C>T (p.Val266=)	CDH5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3141310	NM_001795.5(CDH5):c.799G>A (p.Val267Met)	CDH5 (V267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271574	NM_001795.5(CDH5):c.829G>C (p.Val277Leu)	CDH5 (V277L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 743245	NM_001795.5(CDH5):c.867G>C (p.Gln289His)	CDH5 (Q289H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3141311	NM_001795.5(CDH5):c.871C>T (p.Arg291Trp)	CDH5 (R291W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468421	NM_001795.5(CDH5):c.937G>A (p.Ala313Thr)	CDH5 (A313T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265319	NM_001795.5(CDH5):c.966G>A (p.Met322Ile)	CDH5 (M322I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271679	NM_001795.5(CDH5):c.1009G>C (p.Val337Leu)	CDH5 (V337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285486	NM_001795.5(CDH5):c.1048A>T (p.Ser350Cys)	CDH5 (S350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411551	NM_001795.5(CDH5):c.1051C>A (p.Pro351Thr)	CDH5 (P351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288713	NM_001795.5(CDH5):c.1157A>T (p.Lys386Met)	CDH5 (K386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509174	NM_001795.5(CDH5):c.1259G>A (p.Arg420Gln)	CDH5 (R420Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141288	NM_001795.5(CDH5):c.1316C>T (p.Pro439Leu)	CDH5 (P439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469820	NM_001795.5(CDH5):c.1363A>T (p.Thr455Ser)	CDH5 (T455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141290	NM_001795.5(CDH5):c.1372G>C (p.Gly458Arg)	CDH5 (G458R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375356	NM_001795.5(CDH5):c.1382C>A (p.Ser461Tyr)	CDH5 (S461Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141291	NM_001795.5(CDH5):c.1399A>G (p.Ile467Val)	CDH5 (I467V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151925	GRCh38/hg38 16q21(chr16:66398501-66430566)x3	BEAN1, CDH5 +2 more	Copy number gain	See cases	GLikely benign
Select item 2520873	NM_001795.5(CDH5):c.1556A>G (p.Asn519Ser)	CDH5 (N519S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3346827	NM_001795.5(CDH5):c.1610C>T (p.Thr537Ile)	CDH5 (T537I)	Single nucleotide variant (missense variant)	CDH5-related condition	GUncertain significance
Select item 3141292	NM_001795.5(CDH5):c.1628T>A (p.Phe543Tyr)	CDH5 (F543Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329659	NM_001795.5(CDH5):c.1652A>G (p.His551Arg)	CDH5 (H551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594550	NM_001795.5(CDH5):c.1697C>T (p.Thr566Met)	CDH5 (T566M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603730	NM_001795.5(CDH5):c.1709C>T (p.Thr570Met)	CDH5 (T570M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284641	NM_001795.5(CDH5):c.1717G>A (p.Val573Met)	CDH5 (V573M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297781	NM_001795.5(CDH5):c.1723G>T (p.Val575Leu)	CDH5 (V575L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141294	NM_001795.5(CDH5):c.1747G>A (p.Glu583Lys)	CDH5 (E583K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286629	NM_001795.5(CDH5):c.1786G>A (p.Val596Met)	CDH5 (V596M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338075	NM_001795.5(CDH5):c.1807G>C (p.Ala603Pro)	CDH5 (A603P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265314	NM_001795.5(CDH5):c.1842C>G (p.Ile614Met)	CDH5 (I614M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141295	NM_001795.5(CDH5):c.1861C>T (p.Arg621Trp)	CDH5 (R621W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688754	NM_001795.5(CDH5):c.1865G>A (p.Arg622Gln)	CDH5 (R622Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479383	NM_001795.5(CDH5):c.1867C>T (p.Arg623Trp)	CDH5 (R623W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280617	NM_001795.5(CDH5):c.1873C>T (p.Arg625Trp)	CDH5 (R625W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456168	NM_001795.5(CDH5):c.1874G>A (p.Arg625Gln)	CDH5 (R625Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141296	NM_001795.5(CDH5):c.1889C>T (p.Ala630Val)	CDH5 (A630V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597932	NM_001795.5(CDH5):c.1894G>A (p.Gly632Ser)	CDH5 (G632S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462794	NM_001795.5(CDH5):c.1906C>A (p.Pro636Thr)	CDH5 (P636T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141297	NM_001795.5(CDH5):c.1907C>G (p.Pro636Arg)	CDH5 (P636R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141298	NM_001795.5(CDH5):c.2006G>A (p.Gly669Asp)	CDH5 (G669D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356793	NM_001795.5(CDH5):c.2027C>G (p.Pro676Arg)	CDH5 (P676R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141299	NM_001795.5(CDH5):c.2042G>A (p.Arg681Gln)	CDH5 (R681Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141300	NM_001795.5(CDH5):c.2050C>T (p.Leu684Phe)	CDH5 (L684F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510376	NM_001795.5(CDH5):c.2060A>G (p.Gln687Arg)	CDH5 (Q687R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265317	NM_001795.5(CDH5):c.2071C>G (p.Pro691Ala)	CDH5 (P691A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265320	NM_001795.5(CDH5):c.2084C>T (p.Ala695Val)	CDH5 (A695V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265316	NM_001795.5(CDH5):c.2140G>C (p.Asp714His)	CDH5 (D714H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141303	NM_001795.5(CDH5):c.2176G>A (p.Asp726Asn)	CDH5 (D726N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526344	NM_001795.5(CDH5):c.2245G>A (p.Asp749Asn)	CDH5 (D749N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265318	NM_001795.5(CDH5):c.2284G>A (p.Asp762Asn)	CDH5 (D762N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476872	NM_001795.5(CDH5):c.2287T>C (p.Trp763Arg)	CDH5 (W763R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265313	NM_001795.5(CDH5):c.2305A>G (p.Met769Val)	CDH5 (M769V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408650	NM_001795.5(CDH5):c.2323G>A (p.Gly775Ser)	CDH5 (G775S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313220	NM_001795.5(CDH5):c.2335C>T (p.Arg779Trp)	CDH5 (R779W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481546	NM_001795.5(CDH5):c.2336G>T (p.Arg779Leu)	CDH5 (R779L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2684807	GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3	B3GNT9, BEAN1 +30 more	Copy number gain	not provided	GUncertain significance
Select item 2424194	NC_000016.9:g.(?_65821800)_(67208957_?)del	B3GNT9, BEAN1 +25 more	Deletion	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 808176	GRCh37/hg19 16q21-22.1(chr16:64981506-66806661)x3	CKLF-CMTM1, CMTM4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2