APMAP[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 2595167	NM_020531.3(APMAP):c.1121G>A (p.Arg374Gln)	APMAP (R374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127880	NM_020531.3(APMAP):c.1112G>A (p.Gly371Asp)	APMAP (G371D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306822	NM_020531.3(APMAP):c.1109G>A (p.Ser370Asn)	APMAP (S370N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127879	NM_020531.3(APMAP):c.1085G>A (p.Ser362Asn)	APMAP (S362N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206835	NM_020531.3(APMAP):c.1082A>G (p.Tyr361Cys)	APMAP (Y361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306841	NM_020531.3(APMAP):c.1079G>C (p.Arg360Pro)	APMAP (R360P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127878	NM_020531.3(APMAP):c.1079G>A (p.Arg360Gln)	APMAP (R360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233506	NM_020531.3(APMAP):c.1078C>T (p.Arg360Trp)	APMAP (R360W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460243	NM_020531.3(APMAP):c.903G>A (p.Met301Ile)	APMAP (M301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507493	NM_020531.3(APMAP):c.758T>C (p.Leu253Ser)	APMAP (L253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246574	NM_020531.3(APMAP):c.727G>C (p.Asp243His)	APMAP (D243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127884	NM_020531.3(APMAP):c.712C>T (p.Arg238Cys)	APMAP (R238C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607685	NM_020531.3(APMAP):c.695A>G (p.Glu232Gly)	APMAP (E232G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127883	NM_020531.3(APMAP):c.671G>A (p.Arg224Gln)	APMAP (R224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457910	NM_020531.3(APMAP):c.646G>A (p.Asp216Asn)	APMAP (D216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355508	NM_020531.3(APMAP):c.499G>A (p.Asp167Asn)	APMAP (D167N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127881	NM_020531.3(APMAP):c.485C>T (p.Thr162Ile)	APMAP (T162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314124	NM_020531.3(APMAP):c.460G>A (p.Gly154Ser)	APMAP (G154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470140	NM_020531.3(APMAP):c.410C>T (p.Ser137Leu)	APMAP (S137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276708	NM_020531.3(APMAP):c.377A>G (p.Asn126Ser)	APMAP (N126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306850	NM_020531.3(APMAP):c.376A>T (p.Asn126Tyr)	APMAP (N126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531322	NM_020531.3(APMAP):c.358C>T (p.Arg120Trp)	APMAP (R120W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383166	NM_020531.3(APMAP):c.338T>G (p.Phe113Cys)	APMAP (F113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232514	NM_020531.3(APMAP):c.315A>G (p.Ile105Met)	APMAP (I105M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538199	NM_020531.3(APMAP):c.305C>G (p.Pro102Arg)	APMAP (P102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302001	NM_020531.3(APMAP):c.208C>A (p.Leu70Ile)	APMAP (L70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518517	NM_020531.3(APMAP):c.206C>G (p.Pro69Arg)	APMAP (P69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206424	NM_020531.3(APMAP):c.173T>C (p.Met58Thr)	APMAP (M58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403238	NM_020531.3(APMAP):c.148C>G (p.Leu50Val)	APMAP (L50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462075	NM_020531.3(APMAP):c.142G>A (p.Val48Ile)	APMAP (V48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306811	NM_020531.3(APMAP):c.63T>G (p.Asp21Glu)	APMAP (D21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396052	NM_020531.3(APMAP):c.50T>C (p.Val17Ala)	APMAP (V17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482850	NM_020531.3(APMAP):c.35C>T (p.Pro12Leu)	APMAP (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306831	NM_020531.3(APMAP):c.34C>A (p.Pro12Thr)	APMAP (P12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474986	NM_020531.3(APMAP):c.5G>A (p.Ser2Asn)	APMAP (S2N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 979560	GRCh37/hg19 20p11.21(chr20:24685850-24948039)x3	CST7, APMAP	Copy number gain	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686745	GRCh37/hg19 20p11.21(chr20:24232978-25520939)x3	ABHD12, ACSS1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 394073	GRCh37/hg19 20p11.21(chr20:24930152-25195470)x3	ACSS1, APMAP +3 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 56