CES5A[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
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 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 2352334	NM_001143685.2(CES5A):c.1708T>C (p.Phe570Leu)	CES5A (F570L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350889	NM_001143685.2(CES5A):c.1680A>C (p.Leu560Phe)	CES5A (L510F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143265	NM_001143685.2(CES5A):c.1601C>T (p.Pro534Leu)	CES5A (P563L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770631	NM_001143685.2(CES5A):c.1581C>T (p.Leu527=)	CES5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2352789	NM_001143685.2(CES5A):c.1492A>G (p.Thr498Ala)	CES5A (T498A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304538	NM_001143685.2(CES5A):c.1421T>C (p.Phe474Ser)	CES5A (F474S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143264	NM_001143685.2(CES5A):c.1393G>C (p.Ala465Pro)	CES5A (A465P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244859	NM_001143685.2(CES5A):c.1363G>A (p.Ala455Thr)	CES5A (A484T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2360435	NM_001143685.2(CES5A):c.1357G>A (p.Asp453Asn)	CES5A (D453N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322578	NM_001143685.2(CES5A):c.1302G>T (p.Glu434Asp)	CES5A (E434D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143263	NM_001143685.2(CES5A):c.1298A>G (p.Tyr433Cys)	CES5A (Y433C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304537	NM_001143685.2(CES5A):c.1292A>G (p.Tyr431Cys)	CES5A (Y460C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143262	NM_001143685.2(CES5A):c.1286C>T (p.Pro429Leu)	CES5A (P458L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288969	NM_001143685.2(CES5A):c.1267C>T (p.His423Tyr)	CES5A (H423Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611609	NM_001143685.2(CES5A):c.1228G>A (p.Val410Met)	CES5A (V439M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143261	NM_001143685.2(CES5A):c.1177A>G (p.Lys393Glu)	CES5A (K422E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321252	NM_001143685.2(CES5A):c.1121T>C (p.Ile374Thr)	CES5A (I374T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467907	NM_001143685.2(CES5A):c.1092G>T (p.Lys364Asn)	CES5A (K364N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143260	NM_001143685.2(CES5A):c.1043T>C (p.Phe348Ser)	CES5A (F377S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609520	NM_001143685.2(CES5A):c.941T>C (p.Val314Ala)	CES5A (V343A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458042	NM_001143685.2(CES5A):c.892A>G (p.Lys298Glu)	CES5A (K327E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326017	NM_001143685.2(CES5A):c.857A>G (p.Glu286Gly)	CES5A (E315G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552450	NM_001143685.2(CES5A):c.845C>T (p.Ala282Val)	CES5A (A282V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143274	NM_001143685.2(CES5A):c.779T>A (p.Leu260Gln)	CES5A (L260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266369	NM_001143685.2(CES5A):c.631G>A (p.Glu211Lys)	CES5A (E240K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622018	NM_001143685.2(CES5A):c.584C>T (p.Ala195Val)	CES5A (A224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143273	NM_001143685.2(CES5A):c.578A>G (p.Asn193Ser)	CES5A (N193S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484091	NM_001143685.2(CES5A):c.572C>T (p.Pro191Leu)	CES5A (P220L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395510	NM_001143685.2(CES5A):c.494A>T (p.Tyr165Phe)	CES5A (Y165F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143272	NM_001143685.2(CES5A):c.481G>A (p.Ala161Thr)	CES5A (A190T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364504	NM_001143685.2(CES5A):c.416C>G (p.Pro139Arg)	CES5A (P168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520448	NM_001143685.2(CES5A):c.397G>A (p.Asp133Asn)	CES5A (D162N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539093	NM_001143685.2(CES5A):c.332A>G (p.His111Arg)	CES5A (H111R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306403	NM_001143685.2(CES5A):c.254G>A (p.Arg85Gln)	CES5A (R85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143271	NM_001143685.2(CES5A):c.244G>A (p.Asp82Asn)	CES5A (D111N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621559	NM_001143685.2(CES5A):c.193C>T (p.Pro65Ser)	CES5A (P94S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143270	NM_001143685.2(CES5A):c.172C>T (p.Leu58Phe)	CES5A (L87F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143269	NM_001143685.2(CES5A):c.133G>A (p.Val45Ile)	CES5A (V45I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143268	NM_001143685.2(CES5A):c.124G>A (p.Gly42Ser)	CES5A (G42S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143266	NM_001143685.2(CES5A):c.86A>G (p.Glu29Gly)	CES5A (E29G +1 more)	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 3063463	GRCh37/hg19 16q12.2(chr16:55863970-56009260)x1	CES1, CES5A	Copy number loss	not specified	GUncertain significance
Select item 1808166	GRCh37/hg19 16q12.2(chr16:55723839-56330832)x3	CES1, CES5A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1705883	GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1	AMFR, CAPNS2 +7 more	Copy number loss	Global developmental delay	GPathogenic
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 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 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 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
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 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
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

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Items: 63