VPS53[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 152858	GRCh38/hg38 17p13.3(chr17:179378-813490)x1	DOC2B, GEMIN4 +35 more	Copy number loss	See cases	GUncertain significance
Select item 154410	GRCh38/hg38 17p13.3(chr17:186959-969740)x1	GEMIN4, GLOD4 +39 more	Copy number loss	See cases	GUncertain significance
Select item 59543	GRCh38/hg38 17p13.3(chr17:193307-1376276)x1	ABR, ABR-AS1 +56 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57476	GRCh38/hg38 17p13.3(chr17:198748-722235)x3	LIAT1, LOC105371430 +19 more	Copy number gain	See cases	GUncertain significance
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 60095	GRCh38/hg38 17p13.3(chr17:258417-770280)x3	GEMIN4, GLOD4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 58275	GRCh38/hg38 17p13.3(chr17:279388-729021)x1	LIAT1, LOC105371430 +18 more	Copy number loss	See cases	GUncertain significance
Select item 150541	GRCh38/hg38 17p13.3(chr17:279582-722097)x3	LIAT1, LOC105371430 +18 more	Copy number gain	See cases	GLikely benign
Select item 60096	GRCh38/hg38 17p13.3(chr17:279611-848014)x3	GEMIN4, GLOD4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 147604	GRCh38/hg38 17p13.3(chr17:333871-880361)x3	LOC130059863, LOC130059864 +33 more	Copy number gain	See cases	GPathogenic
Select item 145942	GRCh38/hg38 17p13.3(chr17:377882-540581)x3	LIAT1, LOC105371430 +6 more	Copy number gain	See cases	GLikely benign
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 147603	GRCh38/hg38 17p13.3(chr17:445331-823474)x3	GEMIN4, GLOD4 +23 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 3336391	NM_001128159.3(VPS53):c.*1619C>G	VPS53	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3061734	NM_001128159.3(VPS53):c.*2A>G	VPS53	Single nucleotide variant (3 prime UTR variant)	VPS53-related disorder	GLikely benign
Select item 2958360	NM_001128159.3(VPS53):c.2490G>A (p.Lys830=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750404	NM_001128159.3(VPS53):c.2481C>T (p.Leu827=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724402	NM_001128159.3(VPS53):c.2472C>T (p.Leu824=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866015	NM_001128159.3(VPS53):c.2460C>T (p.Arg820=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336882	NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly)	VPS53 (R820G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2829567	NM_001128159.3(VPS53):c.2454G>A (p.Ser818=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758936	NM_001128159.3(VPS53):c.2448A>G (p.Gln816=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764390	NM_001128159.3(VPS53):c.2439A>G (p.Thr813=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974673	NM_001128159.3(VPS53):c.2433G>A (p.Ala811=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717662	NM_001128159.3(VPS53):c.2430G>A (p.Thr810=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292624	NM_001128159.3(VPS53):c.2429C>T (p.Thr810Met)	VPS53 (T810M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3009546	NM_001128159.3(VPS53):c.2427G>C (p.Leu809=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029113	NM_001128159.3(VPS53):c.2420T>C (p.Leu807Pro)	VPS53 (L807P)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 2900775	NM_001128159.3(VPS53):c.2415C>T (p.Gly805=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1207849	NM_001128159.3(VPS53):c.2412C>T (p.Ser804=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727974	NM_001128159.3(VPS53):c.2406A>G (p.Glu802=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791464	NM_001128159.3(VPS53):c.2403A>G (p.Ala801=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786161	NM_001128159.3(VPS53):c.2397G>C (p.Ser799=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 391054	NM_001128159.3(VPS53):c.2397G>A (p.Ser799=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 726450	NM_001128159.3(VPS53):c.2396C>T (p.Ser799Leu)	VPS53 (S799L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2868466	NM_001128159.3(VPS53):c.2391G>T (p.Pro797=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867722	NM_001128159.3(VPS53):c.2391G>A (p.Pro797=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697909	NM_001128159.3(VPS53):c.2388A>G (p.Ala796=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974697	NM_001128159.3(VPS53):c.2385C>T (p.Pro795=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864891	NM_001128159.3(VPS53):c.2382C>G (p.Leu794=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776244	NM_001128159.3(VPS53):c.2377C>A (p.Arg793=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891160	NM_001128159.3(VPS53):c.2373C>T (p.Arg791=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1677137	NM_001128159.3(VPS53):c.2371C>T (p.Arg791Cys)	VPS53 (R791C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2998772	NM_001128159.3(VPS53):c.2370G>A (p.Leu790=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029112	NM_001128159.3(VPS53):c.2365C>G (p.Leu789Val)	VPS53 (L789V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 1207414	NM_001128159.3(VPS53):c.2352C>T (p.Ser784=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 551839	NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter)	VPS53 (Q783*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 2806795	NM_001128159.3(VPS53):c.2337G>A (p.Lys779=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029111	NM_001128159.3(VPS53):c.2329G>C (p.Gly777Arg)	VPS53 (G777R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 2694758	NM_001128159.3(VPS53):c.2329-9C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881006	NM_001128159.3(VPS53):c.2329-11C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515460	NM_001128159.3(VPS53):c.2329-13C>T	VPS53	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3005944	NM_001128159.3(VPS53):c.2329-19G>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295800	NM_001128159.3(VPS53):c.2328+170C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220011	NM_001128159.3(VPS53):c.2328+45dup	VPS53	Duplication (intron variant)	not provided	GLikely benign
Select item 380879	NM_001128159.3(VPS53):c.2328+15A>G	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +2 more	GBenign
Select item 2960108	NM_001128159.3(VPS53):c.2328+12G>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 707959	NM_001128159.3(VPS53):c.2328+10G>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976884	NM_001128159.3(VPS53):c.2328+9C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991805	NM_001128159.3(VPS53):c.2328+8C>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880063	NM_001128159.3(VPS53):c.2319G>A (p.Leu773=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760887	NM_001128159.3(VPS53):c.2304C>G (p.Thr768=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798076	NM_001128159.3(VPS53):c.2265C>T (p.Asp755=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1223201	NM_001128159.3(VPS53):c.2253G>A (p.Val751=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2372118	NM_001128159.3(VPS53):c.2251G>A (p.Val751Met)	VPS53 (V751M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2807600	NM_001128159.3(VPS53):c.2247G>T (p.Pro749=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725657	NM_001128159.3(VPS53):c.2247G>A (p.Pro749=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965700	NM_001128159.3(VPS53):c.2238T>G (p.Pro746=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227773	NM_001128159.3(VPS53):c.2232G>A (p.Met744Ile)	VPS53 (M744I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2795059	NM_001128159.3(VPS53):c.2229G>C (p.Val743=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001984	NM_001128159.3(VPS53):c.2224-7G>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743660	NM_001128159.3(VPS53):c.2224-7G>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969105	NM_001128159.3(VPS53):c.2224-8C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735539	NM_001128159.3(VPS53):c.2224-15C>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817807	NM_001128159.3(VPS53):c.2224-17G>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847310	NM_001128159.3(VPS53):c.2224-19C>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973081	NM_001128159.3(VPS53):c.2224-20C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857302	NM_001128159.3(VPS53):c.2223+17A>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852355	NM_001128159.3(VPS53):c.2223+15dup	VPS53	Duplication (intron variant)	not provided	GLikely benign
Select item 2957826	NM_001128159.3(VPS53):c.2223+13G>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign

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