VAPA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	LINC01892, LINC01895 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	ADCYAP1, AFG3L2 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LINC00470, LINC00526 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC125368546, LOC125368547 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062172, LOC130062173 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	RAB31, RALBP1 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	LOC130062167, LOC130062168 +245 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	LOC130062212, LOC130062213 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	ADCYAP1, AFG3L2 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	ADCYAP1, AFG3L2 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	TGIF1, THOC1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	LOC112543419, LOC112543420 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 59957	GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1	ANKRD12, GACAT2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	LOC130062178, LOC130062179 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	ABHD3, AFG3L2 +322 more	Copy number gain	See cases	GPathogenic
Select item 2482360	NM_194434.3(VAPA):c.11C>T (p.Ala4Val)	VAPA (A4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548577	NM_194434.3(VAPA):c.72A>C (p.Lys24Asn)	VAPA (K24N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511052	NM_194434.3(VAPA):c.101C>T (p.Thr34Ile)	VAPA (T34I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548947	NM_194434.3(VAPA):c.313A>G (p.Asn105Asp)	VAPA (N105D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290255	NM_194434.3(VAPA):c.418-5404C>T	VAPA (T162I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524857	NM_194434.3(VAPA):c.418-5387A>G	VAPA (T168A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648580	NM_194434.3(VAPA):c.418-5376C>T	VAPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2389161	NM_194434.3(VAPA):c.418-5363A>T	VAPA (S176C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537787	NM_194434.3(VAPA):c.446C>G (p.Pro149Arg)	VAPA (P194R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373091	NM_194434.3(VAPA):c.446C>T (p.Pro149Leu)	VAPA (P194L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345308	NM_194434.3(VAPA):c.481A>G (p.Lys161Glu)	VAPA (K206E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403874	NM_194434.3(VAPA):c.499C>T (p.Leu167Phe)	VAPA (L167F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263718	NM_194434.3(VAPA):c.503A>G (p.Asn168Ser)	VAPA (N168S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206181	NM_194434.3(VAPA):c.581G>A (p.Arg194Gln)	VAPA (R194Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543247	NM_194434.3(VAPA):c.655T>A (p.Ser219Thr)	VAPA (S219T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684865	GRCh37/hg19 18p11.22(chr18:9609466-10792750)x3	APCDD1, NAPG +5 more	Copy number gain	not provided	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2423825	NC_000018.9:g.(?_9102742)_(12725530_?)dup	AFG3L2, ANKRD12 +22 more	Duplication	Dystonic disorder	GUncertain significance
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1706491	GRCh37/hg19 18p11.22-11.21(chr18:9569601-12218695)x1	MPPE1, NAPG +11 more	Copy number loss	See cases	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	PRELID3A, PSMG2 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1077182	Single allele	AFG3L2, AKAIN1 +50 more	Deletion	Deletion of short arm of chromosome 18	GPathogenic
Select item 979519	GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1	MTCL1, CIDEA +36 more	Copy number loss	not provided	GPathogenic
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 815978	GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1	AKAIN1, EPB41L3 +31 more	Copy number loss	not provided	GPathogenic
Select item 815977	GRCh37/hg19 18p11.22(chr18:9900414-10138753)x3	VAPA	Copy number gain	not provided	GUncertain significance
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564562	GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3	LPIN2, SLC35G4 +55 more	Copy number gain	not provided	GPathogenic
Select item 564559	GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1	DLGAP1-AS2, SMCHD1 +54 more	Copy number loss	not provided	GPathogenic
Select item 564557	GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1	LRRC30, USP14 +38 more	Copy number loss	not provided	GPathogenic
Select item 564498	GRCh37/hg19 18p11.22(chr18:9878669-10130731)x3	VAPA, TXNDC2	Copy number gain	not provided	GUncertain significance
Select item 503584	GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1	GNAL, IMPA2 +65 more	Copy number loss	See cases	GPathogenic
Select item 446344	GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic

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