ACY3[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	RIN1, RPS6KB2 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	ACY3, AIP +54 more	Copy number loss	See cases	GBenign
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 144730	GRCh38/hg38 11q13.2(chr11:67590733-67806931)x3	ACY3, ALDH3B2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57210	GRCh38/hg38 11q13.2(chr11:67590733-67698250)x3	ACY3, ALDH3B2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 157206	NC_000011.10:g.67606198_67820541dup	ACY3, ALDH3B2 +21 more	Duplication	Normal pregnancy	Gnot provided
Select item 2490837	NM_080658.2(ACY3):c.928G>T (p.Ala310Ser)	ACY3 (A310S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278643	NM_080658.2(ACY3):c.901T>C (p.Phe301Leu)	ACY3 (F301L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2221473	NM_080658.2(ACY3):c.844T>A (p.Phe282Ile)	ACY3 (F282I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292696	NM_080658.2(ACY3):c.817G>A (p.Glu273Lys)	ACY3 (E273K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595263	NM_080658.2(ACY3):c.805G>A (p.Asp269Asn)	ACY3 (D269N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301995	NM_080658.2(ACY3):c.782T>C (p.Ile261Thr)	ACY3 (I261T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297746	NM_080658.2(ACY3):c.752A>T (p.Asp251Val)	ACY3 (D251V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522270	NM_080658.2(ACY3):c.682G>A (p.Val228Ile)	ACY3 (V228I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221472	NM_080658.2(ACY3):c.617T>C (p.Ile206Thr)	ACY3 (I206T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494531	NM_080658.2(ACY3):c.585G>A (p.Met195Ile)	ACY3 (M195I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547201	NM_080658.2(ACY3):c.469T>C (p.Tyr157His)	ACY3 (Y157H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595262	NM_080658.2(ACY3):c.314C>T (p.Ser105Leu)	ACY3 (S105L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219969	NM_080658.2(ACY3):c.302G>A (p.Gly101Glu)	ACY3 (G101E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314649	NM_080658.2(ACY3):c.268G>A (p.Val90Met)	ACY3, LOC130006223 (V90M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385754	NM_080658.2(ACY3):c.254A>G (p.Asp85Gly)	ACY3, LOC130006223 (D85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308047	NM_080658.2(ACY3):c.211C>T (p.Arg71Cys)	ACY3 (R71C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243074	NM_080658.2(ACY3):c.162C>G (p.Asn54Lys)	ACY3 (N54K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230418	NM_080658.2(ACY3):c.157G>A (p.Ala53Thr)	ACY3 (A53T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214427	NM_080658.2(ACY3):c.94C>T (p.Arg32Trp)	ACY3 (R32W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621412	NM_080658.2(ACY3):c.47T>C (p.Val16Ala)	ACY3 (V16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409371	NM_080658.2(ACY3):c.38G>A (p.Arg13His)	ACY3 (R13H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339789	NM_080658.2(ACY3):c.28C>T (p.Pro10Ser)	ACY3 (P10S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 42