ESRP2[gene] - ClinVar - NCBI

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	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 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 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 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 2596267	NM_024939.3(ESRP2):c.2129C>T (p.Ala710Val)	ESRP2 (A710V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377513	NM_024939.3(ESRP2):c.2113C>T (p.Arg705Cys)	ESRP2 (R705C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034649	NM_024939.3(ESRP2):c.2082C>T (p.Tyr694=)	ESRP2 (T639I)	Single nucleotide variant (synonymous variant +1 more)	ESRP2-related disorder	GLikely benign
Select item 3040484	NM_024939.3(ESRP2):c.2074G>C (p.Asp692His)	ESRP2 (D692H +1 more)	Single nucleotide variant (missense variant +1 more)	ESRP2-related disorder	GLikely benign
Select item 3090562	NM_024939.3(ESRP2):c.2071G>C (p.Ala691Pro)	ESRP2 (A691P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 780183	NM_024939.3(ESRP2):c.2071G>A (p.Ala691Thr)	ESRP2 (A691T +1 more)	Single nucleotide variant (missense variant +1 more)	ESRP2-related disorder +1 more	GBenign
Select item 2635059	NM_024939.3(ESRP2):c.2041C>T (p.Leu681Phe)	ESRP2 (L681F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3276510	NM_024939.3(ESRP2):c.2026G>A (p.Gly676Ser)	ESRP2 (G676S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049560	NM_024939.3(ESRP2):c.2022G>A (p.Thr674=)	ESRP2	Single nucleotide variant (synonymous variant +1 more)	ESRP2-related disorder	GBenign
Select item 2588021	NM_024939.3(ESRP2):c.2021C>T (p.Thr674Met)	ESRP2 (T684M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620355	NM_024939.3(ESRP2):c.1930C>T (p.Leu644Phe)	ESRP2 (L654F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040650	NM_024939.3(ESRP2):c.1849C>T (p.Pro617Ser)	ESRP2 (P617S +1 more)	Single nucleotide variant (missense variant)	ESRP2-related disorder	GLikely benign
Select item 3038594	NM_024939.3(ESRP2):c.1788C>T (p.Pro596=)	ESRP2	Single nucleotide variant (synonymous variant)	ESRP2-related disorder	GLikely benign
Select item 3276503	NM_024939.3(ESRP2):c.1772C>T (p.Thr591Met)	ESRP2 (T591M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041205	NM_024939.3(ESRP2):c.1731C>T (p.Tyr577=)	ESRP2	Single nucleotide variant (synonymous variant)	ESRP2-related disorder	GBenign
Select item 3276512	NM_024939.3(ESRP2):c.1729T>A (p.Tyr577Asn)	ESRP2 (Y577N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340306	NM_024939.3(ESRP2):c.1709C>A (p.Pro570His)	ESRP2 (P580H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330087	NM_024939.3(ESRP2):c.1709C>T (p.Pro570Leu)	ESRP2 (P580L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228491	NM_024939.3(ESRP2):c.1675C>T (p.Arg559Cys)	ESRP2 (R569C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090560	NM_024939.3(ESRP2):c.1649G>A (p.Arg550Gln)	ESRP2 (R560Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834041	NM_024939.3(ESRP2):c.1636GAG[1] (p.Glu547del)	ESRP2 (E557del +1 more)	Microsatellite (inframe_deletion)	Cleft lip with or without cleft palate	GUncertain significance
Select item 2614858	NM_024939.3(ESRP2):c.1607G>A (p.Arg536His)	ESRP2 (R536H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054329	NM_024939.3(ESRP2):c.1587T>C (p.His529=)	ESRP2	Single nucleotide variant (synonymous variant)	ESRP2-related disorder	GLikely benign
Select item 2618896	NM_024939.3(ESRP2):c.1586A>G (p.His529Arg)	ESRP2 (H539R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834038	NM_024939.3(ESRP2):c.1558C>T (p.Arg520Ter)	ESRP2 (R520* +1 more)	Single nucleotide variant (nonsense)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 3043764	NM_024939.3(ESRP2):c.1553C>T (p.Ala518Val)	ESRP2 (A518V +1 more)	Single nucleotide variant (missense variant)	ESRP2-related disorder	GBenign
Select item 834040	NM_024939.3(ESRP2):c.1523C>T (p.Ser508Leu)	ESRP2 (S508L +1 more)	Single nucleotide variant (missense variant)	Cleft lip with or without cleft palate	GUncertain significance
Select item 3276502	NM_024939.3(ESRP2):c.1478G>A (p.Arg493Gln)	ESRP2 (R493Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410418	NM_024939.3(ESRP2):c.1477C>T (p.Arg493Trp)	ESRP2 (R493W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220150	NM_024939.3(ESRP2):c.1474A>G (p.Ile492Val)	ESRP2 (I492V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090559	NM_024939.3(ESRP2):c.1456G>T (p.Gly486Trp)	ESRP2 (G496W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780184	NM_024939.3(ESRP2):c.1425G>A (p.Thr475=)	ESRP2	Single nucleotide variant (synonymous variant)	ESRP2-related disorder +1 more	GBenign
Select item 2542005	NM_024939.3(ESRP2):c.1409G>A (p.Arg470Gln)	ESRP2 (R470Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090558	NM_024939.3(ESRP2):c.1403G>A (p.Arg468His)	ESRP2 (R468H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635946	NM_024939.3(ESRP2):c.1388G>A (p.Gly463Glu)	ESRP2 (G463E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2227847	NM_024939.3(ESRP2):c.1379C>T (p.Pro460Leu)	ESRP2 (P470L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033323	NM_024939.3(ESRP2):c.1299+7G>A	ESRP2	Single nucleotide variant (intron variant)	ESRP2-related disorder	GLikely benign
Select item 3090557	NM_024939.3(ESRP2):c.1274G>A (p.Arg425Gln)	ESRP2 (R435Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090556	NM_024939.3(ESRP2):c.1273C>T (p.Arg425Trp)	ESRP2 (R425W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090555	NM_024939.3(ESRP2):c.1261A>G (p.Ile421Val)	ESRP2 (I431V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407158	NM_024939.3(ESRP2):c.1232G>A (p.Arg411Lys)	ESRP2 (R411K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284463	NM_024939.3(ESRP2):c.1229G>A (p.Arg410His)	ESRP2 (R410H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276504	NM_024939.3(ESRP2):c.1169G>A (p.Arg390Gln)	ESRP2 (R390Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276501	NM_024939.3(ESRP2):c.1154G>A (p.Arg385His)	ESRP2 (R385H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362355	NM_024939.3(ESRP2):c.1153C>T (p.Arg385Cys)	ESRP2 (R385C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049312	NM_024939.3(ESRP2):c.1092G>A (p.Val364=)	ESRP2	Single nucleotide variant (synonymous variant)	ESRP2-related disorder	GLikely benign
Select item 2487599	NM_024939.3(ESRP2):c.1085C>G (p.Thr362Arg)	ESRP2 (T372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274794	NM_024939.3(ESRP2):c.1073C>T (p.Ser358Leu)	ESRP2 (S358L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355736	NM_024939.3(ESRP2):c.1052G>A (p.Arg351Gln)	ESRP2 (R351Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353907	NM_024939.3(ESRP2):c.995G>A (p.Gly332Glu)	ESRP2 (G342E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276509	NM_024939.3(ESRP2):c.991G>C (p.Ala331Pro)	ESRP2 (A331P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276511	NM_024939.3(ESRP2):c.964G>A (p.Ala322Thr)	ESRP2 (A322T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033846	NM_024939.3(ESRP2):c.955-4A>G	ESRP2	Single nucleotide variant (intron variant)	ESRP2-related disorder	GLikely benign
Select item 834037	NM_024939.3(ESRP2):c.944G>A (p.Arg315His)	ESRP2 (R315H +1 more)	Single nucleotide variant (missense variant)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 2304906	NM_024939.3(ESRP2):c.934A>G (p.Met312Val)	ESRP2 (M322V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276505	NM_024939.3(ESRP2):c.902G>A (p.Arg301Gln)	ESRP2 (R311Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276507	NM_024939.3(ESRP2):c.893G>C (p.Ser298Thr)	ESRP2 (S298T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255132	NM_024939.3(ESRP2):c.818C>T (p.Ala273Val)	ESRP2 (A273V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539210	NM_024939.3(ESRP2):c.814G>A (p.Val272Met)	ESRP2 (V282M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273645	NM_024939.3(ESRP2):c.794G>A (p.Arg265His)	ESRP2 (R275H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090567	NM_024939.3(ESRP2):c.793C>T (p.Arg265Cys)	ESRP2 (R265C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335494	NM_024939.3(ESRP2):c.755G>A (p.Arg252His)	ESRP2 (R252H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834039	NM_024939.3(ESRP2):c.749G>A (p.Arg250Gln)	ESRP2 (R250Q +1 more)	Single nucleotide variant (missense variant)	Cleft lip with or without cleft palate	GUncertain significance
Select item 2277316	NM_024939.3(ESRP2):c.748C>T (p.Arg250Trp)	ESRP2 (R250W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053817	NM_024939.3(ESRP2):c.711-9C>T	ESRP2	Single nucleotide variant (synonymous variant +1 more)	ESRP2-related disorder	GLikely benign
Select item 3090565	NM_024939.3(ESRP2):c.704G>C (p.Gly235Ala)	ESRP2 (G235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090564	NM_024939.3(ESRP2):c.697G>C (p.Glu233Gln)	ESRP2 (E233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053624	NM_024939.3(ESRP2):c.656-4T>C	ESRP2	Single nucleotide variant (intron variant)	ESRP2-related disorder	GBenign
Select item 2326019	NM_024939.3(ESRP2):c.625G>C (p.Val209Leu)	ESRP2 (V209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264424	NM_024939.3(ESRP2):c.515C>T (p.Thr172Ile)	ESRP2 (T172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044046	NM_024939.3(ESRP2):c.426C>T (p.Pro142=)	ESRP2	Single nucleotide variant (synonymous variant)	ESRP2-related disorder	GLikely benign
Select item 2468279	NM_024939.3(ESRP2):c.400C>G (p.Gln134Glu)	ESRP2 (Q134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689033	NM_024939.3(ESRP2):c.364G>C (p.Gly122Arg)	ESRP2 (G122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2379209	NM_024939.3(ESRP2):c.346G>A (p.Gly116Arg)	ESRP2 (G116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540778	NM_024939.3(ESRP2):c.262G>C (p.Glu88Gln)	ESRP2 (E88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379040	NM_024939.3(ESRP2):c.193C>T (p.Arg65Cys)	ESRP2 (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090561	NM_024939.3(ESRP2):c.191G>A (p.Ser64Asn)	ESRP2 (S64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034521	NM_024939.3(ESRP2):c.138C>G (p.Gly46=)	ESRP2	Single nucleotide variant (synonymous variant)	ESRP2-related disorder	GLikely benign
Select item 3033371	NM_024939.3(ESRP2):c.129G>A (p.Arg43=)	ESRP2	Single nucleotide variant (synonymous variant)	ESRP2-related disorder	GBenign
Select item 3276508	NM_024939.3(ESRP2):c.107C>T (p.Ala36Val)	ESRP2 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263728	NM_024939.3(ESRP2):c.65A>C (p.Asp22Ala)	ESRP2 (D22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090563	NM_024939.3(ESRP2):c.28C>T (p.Pro10Ser)	ESRP2 (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222768	NM_024939.3(ESRP2):c.26C>T (p.Pro9Leu)	ESRP2 (P9L)	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 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +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 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic

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