ClinVar for Gene (Select 65082) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332239	NM_022916.6(VPS33A):c.1412G>A (p.Arg471His)	VPS33A (R455H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332238	NM_022916.6(VPS33A):c.1393A>G (p.Thr465Ala)	VPS33A (T449A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332237	NM_022916.6(VPS33A):c.215C>T (p.Pro72Leu)	VPS33A (P61L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332236	NM_022916.6(VPS33A):c.1444C>A (p.Pro482Thr)	VPS33A (P375T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332234	NM_022916.6(VPS33A):c.1748A>G (p.Asn583Ser)	VPS33A (N567S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332233	NM_022916.6(VPS33A):c.530A>C (p.Lys177Thr)	VPS33A (K166T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250866	NM_022916.6(VPS33A):c.484-2406T>C	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3250765	NM_022916.6(VPS33A):c.484-2379T>C	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3244431	NC_000012.11:g.(?_122701015)_(122750955_?)dup	DIABLO, VPS33A	Duplication	not provided	GUncertain significance
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ZCCHC8, ANAPC5 +24 more	Deletion	not provided	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3239318	NM_022916.6(VPS33A):c.1097-1191_1097-1190dup	VPS33A	Duplication (intron variant)	not provided	GLikely benign
Select item 3188896	NM_022916.6(VPS33A):c.340G>A (p.Val114Met)	VPS33A (V98M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188895	NM_022916.6(VPS33A):c.1481C>T (p.Pro494Leu)	VPS33A (P478L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188894	NM_022916.6(VPS33A):c.1049C>T (p.Ser350Leu)	VPS33A (S339L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063631	NC_000012.11:g.(122745995_122748118)_(122751042_?)dup	VPS33A	Duplication	not specified	GUncertain significance
Select item 3055566	NM_022916.6(VPS33A):c.102+174del	VPS33A (A5fs)	Deletion (frameshift variant +2 more)	VPS33A-related disorder	GLikely benign
Select item 3051183	NM_022916.6(VPS33A):c.1482G>A (p.Pro494=)	VPS33A	Single nucleotide variant (synonymous variant)	VPS33A-related disorder	GLikely benign
Select item 3041548	NM_022916.6(VPS33A):c.484-2454_484-2452del	VPS33A	Deletion (intron variant)	VPS33A-related disorder	GLikely benign
Select item 3041286	NM_022916.6(VPS33A):c.484-2453_484-2452dup	VPS33A	Duplication (intron variant)	VPS33A-related disorder	GBenign
Select item 3013594	NM_022916.6(VPS33A):c.103-9C>T	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009293	NM_022916.6(VPS33A):c.600+19G>A	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001407	NM_022916.6(VPS33A):c.918A>G (p.Ala306=)	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997070	NM_022916.6(VPS33A):c.102+17A>G	VPS33A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2990516	NM_022916.6(VPS33A):c.843C>T (p.Pro281=)	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978536	NM_022916.6(VPS33A):c.484-19T>C	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973525	NM_022916.6(VPS33A):c.1653G>T (p.Gly551=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972934	NM_022916.6(VPS33A):c.1281T>C (p.Tyr427=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971801	NM_022916.6(VPS33A):c.1065C>A (p.Thr355=)	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970168	NM_022916.6(VPS33A):c.174T>C (p.His58=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966586	NM_022916.6(VPS33A):c.169-5C>T	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899601	NM_022916.6(VPS33A):c.845C>T (p.Thr282Met)	VPS33A (T282M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2846345	NM_022916.6(VPS33A):c.1129G>A (p.Glu377Lys)	VPS33A (E361K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841992	NM_022916.6(VPS33A):c.168+18G>A	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797072	NM_022916.6(VPS33A):c.156T>C (p.Tyr52=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777332	NM_022916.6(VPS33A):c.537G>A (p.Leu179=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759889	NM_022916.6(VPS33A):c.993G>A (p.Val331=)	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2746844	NM_022916.6(VPS33A):c.484-5C>T	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741355	NM_022916.6(VPS33A):c.775+15T>C	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728658	NM_022916.6(VPS33A):c.600+9C>T	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2643496	NM_022916.6(VPS33A):c.351T>A (p.Arg117=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643495	NM_022916.6(VPS33A):c.1097-1104T>C	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2605039	NM_022916.6(VPS33A):c.1766A>G (p.Glu589Gly)	VPS33A (E578G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600493	NM_022916.6(VPS33A):c.480C>A (p.Phe160Leu)	VPS33A (F149L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2545281	NM_022916.6(VPS33A):c.226G>A (p.Val76Met)	VPS33A (V60M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543911	NM_022916.6(VPS33A):c.202G>A (p.Gly68Arg)	VPS33A (G52R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543700	NM_022916.6(VPS33A):c.1124C>G (p.Thr375Ser)	VPS33A (T268S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541506	NM_022916.6(VPS33A):c.800A>G (p.Lys267Arg)	VPS33A (K256R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519765	NM_022916.6(VPS33A):c.1364C>T (p.Pro455Leu)	VPS33A (P348L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465908	NM_022916.6(VPS33A):c.214C>A (p.Pro72Thr)	VPS33A (P61T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462628	NM_022916.6(VPS33A):c.994G>C (p.Gly332Arg)	VPS33A (G316R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2430785	NM_022916.6(VPS33A):c.1609+150C>G	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 2416562	NM_022916.6(VPS33A):c.509C>A (p.Thr170Lys)	VPS33A (T154K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2414850	NM_022916.6(VPS33A):c.1719A>G (p.Glu573=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414146	NM_022916.6(VPS33A):c.1303-9C>T	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413954	NM_022916.6(VPS33A):c.594C>T (p.Cys198=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2336930	NM_022916.6(VPS33A):c.821G>A (p.Gly274Asp)	VPS33A (G258D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2280995	NM_022916.6(VPS33A):c.91G>A (p.Ala31Thr)	VPS33A (A31T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2267981	NM_022916.6(VPS33A):c.1058A>G (p.Asn353Ser)	VPS33A (N342S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253619	NM_022916.6(VPS33A):c.238A>G (p.Ile80Val)	VPS33A (I80V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2200806	NM_022916.6(VPS33A):c.1205C>T (p.Ser402Leu)	VPS33A (S295L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192689	NM_022916.6(VPS33A):c.208C>G (p.Arg70Gly)	VPS33A (R54G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188615	NM_022916.6(VPS33A):c.737A>G (p.Tyr246Cys)	VPS33A (Y246C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2185810	NM_022916.6(VPS33A):c.1387T>C (p.Tyr463His)	VPS33A (Y447H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185173	NM_022916.6(VPS33A):c.1321A>C (p.Ile441Leu)	VPS33A (I334L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182797	NM_022916.6(VPS33A):c.275T>C (p.Ile92Thr)	VPS33A (I76T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2182044	NM_022916.6(VPS33A):c.600+10G>A	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181265	NM_022916.6(VPS33A):c.846G>A (p.Thr282=)	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2179402	NM_022916.6(VPS33A):c.1549A>C (p.Ile517Leu)	VPS33A (I506L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2178430	NM_022916.6(VPS33A):c.543C>T (p.Thr181=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169800	NM_022916.6(VPS33A):c.991G>A (p.Val331Met)	VPS33A (V331M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2169439	NM_022916.6(VPS33A):c.317C>T (p.Thr106Met)	VPS33A (T90M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133750	NM_022916.6(VPS33A):c.1770T>C (p.Ala590=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130850	NM_022916.6(VPS33A):c.924C>T (p.Gly308=)	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2129536	NM_022916.6(VPS33A):c.816A>G (p.Lys272=)	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2116985	NM_022916.6(VPS33A):c.1461T>C (p.Tyr487=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110174	NM_022916.6(VPS33A):c.1165-11T>A	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109498	NM_022916.6(VPS33A):c.1097-20A>G	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106984	NM_022916.6(VPS33A):c.948G>A (p.Lys316=)	VPS33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2105061	NM_022916.6(VPS33A):c.103-15T>G	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2102036	NM_022916.6(VPS33A):c.27A>G (p.Arg9=)	VPS33A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2100185	NM_022916.6(VPS33A):c.484G>A (p.Glu162Lys)	VPS33A (E162K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100065	NM_022916.6(VPS33A):c.340G>T (p.Val114Leu)	VPS33A (V103L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099654	NM_022916.6(VPS33A):c.422G>A (p.Ser141Asn)	VPS33A (S125N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092686	NM_022916.6(VPS33A):c.168+20T>C	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087153	NM_022916.6(VPS33A):c.1452C>T (p.Asp484=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085278	NM_022916.6(VPS33A):c.1456T>C (p.Ser486Pro)	VPS33A (S470P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079120	NM_022916.6(VPS33A):c.931C>T (p.Leu311Phe)	VPS33A (L300F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2071813	NM_022916.6(VPS33A):c.600+8C>A	VPS33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069970	NM_022916.6(VPS33A):c.608C>A (p.Ala203Asp)	VPS33A (A203D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068739	NM_022916.6(VPS33A):c.1783C>A (p.Pro595Thr)	VPS33A (P584T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067255	NM_022916.6(VPS33A):c.1308C>T (p.Tyr436=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063313	NM_022916.6(VPS33A):c.109G>C (p.Val37Leu)	VPS33A (V26L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060828	NM_022916.6(VPS33A):c.1126G>A (p.Val376Met)	VPS33A (V269M +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2052643	NM_022916.6(VPS33A):c.183A>G (p.Glu61=)	VPS33A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047475	NM_022916.6(VPS33A):c.1302+3G>A	VPS33A	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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