CES4A[gene] - ClinVar

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Items: 77

	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 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	B3GNT9, CBFB +70 more	Copy number gain	See cases	GUncertain significance
Select item 154697	GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3	B3GNT9, CBFB +65 more	Copy number gain	See cases	GUncertain significance
Select item 152800	GRCh38/hg38 16q22.1(chr16:66945487-67024713)x3	CES3, CES4A +9 more	Copy number gain	See cases	GUncertain significance
Select item 59993	GRCh38/hg38 16q22.1(chr16:66963495-67004242)x3	CES3, CES4A +3 more	Copy number gain	See cases	GUncertain significance
Select item 2357270	NM_001364782.1(CES4A):c.50C>T (p.Thr17Met)	CES4A (T40M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143256	NM_001364782.1(CES4A):c.74A>G (p.Lys25Arg)	CES4A (K25R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143257	NM_001364782.1(CES4A):c.83A>G (p.Gln28Arg)	CES4A (Q28R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457094	NM_001364782.1(CES4A):c.118C>G (p.Gln40Glu)	CES4A (Q63E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353217	NM_001364782.1(CES4A):c.131G>A (p.Gly44Glu)	CES4A (G44E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459338	NM_001364782.1(CES4A):c.178C>G (p.Pro60Ala)	CES4A (P60A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474989	NM_001364782.1(CES4A):c.215C>T (p.Pro72Leu)	CES4A (P72L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233439	NM_001364782.1(CES4A):c.254C>T (p.Pro85Leu)	CES4A (P108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331499	NM_001364782.1(CES4A):c.379G>A (p.Ala127Thr)	CES4A (A127T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609696	NM_001364782.1(CES4A):c.388G>A (p.Asp130Asn)	CES4A (D32N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143254	NM_001364782.1(CES4A):c.503T>G (p.Leu168Arg)	CES4A (L70R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354738	NM_001364782.1(CES4A):c.523T>C (p.Phe175Leu)	CES4A (F198L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3143255	NM_001364782.1(CES4A):c.595C>T (p.Arg199Cys)	CES4A (R101C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532235	NM_001364782.1(CES4A):c.598T>G (p.Trp200Gly)	CES4A (W102G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333548	NM_001364782.1(CES4A):c.665C>A (p.Ala222Glu)	CES4A (A124E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547834	NM_001364782.1(CES4A):c.749C>T (p.Ala250Val)	CES4A (A156V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325670	NM_001364782.1(CES4A):c.773G>A (p.Ser258Asn)	CES4A (S160N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242241	NM_001364782.1(CES4A):c.794A>T (p.Lys265Met)	CES4A (K288M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547353	NM_001364782.1(CES4A):c.877G>T (p.Val293Leu)	CES4A (V293L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143258	NM_001364782.1(CES4A):c.913C>A (p.Leu305Met)	CES4A (L111M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268786	NM_001364782.1(CES4A):c.916A>T (p.Asn306Tyr)	CES4A (N208Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361088	NM_001364782.1(CES4A):c.928G>C (p.Asp310His)	CES4A (D216H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143259	NM_001364782.1(CES4A):c.932C>T (p.Pro311Leu)	CES4A (P334L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313361	NM_001364782.1(CES4A):c.1052A>G (p.Asn351Ser)	CES4A (N351S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266367	NM_001364782.1(CES4A):c.1090T>C (p.Phe364Leu)	CES4A (F266L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317186	NM_001364782.1(CES4A):c.1094C>T (p.Pro365Leu)	CES4A (P171L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143248	NM_001364782.1(CES4A):c.1102C>T (p.Arg368Trp)	CES4A (R174W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611269	NM_001364782.1(CES4A):c.1147A>G (p.Thr383Ala)	CES4A (T189A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223642	NM_001364782.1(CES4A):c.1179G>C (p.Gln393His)	CES4A (Q299H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243993	NM_001364782.1(CES4A):c.1184C>T (p.Pro395Leu)	CES4A (P418L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143249	NM_001364782.1(CES4A):c.1254G>A (p.Met418Ile)	CES4A (M224I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529898	NM_001364782.1(CES4A):c.1298C>T (p.Thr433Ile)	CES4A (T239I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143250	NM_001364782.1(CES4A):c.1540C>T (p.Pro514Ser)	CES4A (P514S +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3143251	NM_001364782.1(CES4A):c.1552C>T (p.Arg518Cys)	CES4A (R324C +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3143252	NM_001364782.1(CES4A):c.1553G>A (p.Arg518His)	CES4A (A357T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143253	NM_001364782.1(CES4A):c.1594A>G (p.Thr532Ala)	CES4A (T532A +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2209982	NM_001364782.1(CES4A):c.1599A>C (p.Arg533Ser)	CES4A (R339S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 688030	GRCh37/hg19 16q22.1(chr16:66797153-67109495)x3	CA7, CBFB +9 more	Copy number gain	not provided	GUncertain significance
Select item 685973	GRCh37/hg19 16q22.1(chr16:66876199-67150370)x3	PDP2, PHAF1 +8 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
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 393763	GRCh37/hg19 16q22.1(chr16:66975093-67039211)x3	CES2, CES3 +1 more	Copy number gain	See cases	GLikely benign
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 77