VPS52[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3189014	NM_022553.6(VPS52):c.2084C>T (p.Pro695Leu)	HCG25, VPS52 (P506L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491523	NM_022553.6(VPS52):c.1928G>A (p.Arg643His)	HCG25, VPS52 (R454H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189013	NM_022553.6(VPS52):c.1874G>A (p.Arg625His)	HCG25, VPS52 (R500H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306840	NM_022553.6(VPS52):c.1654G>A (p.Ala552Thr)	VPS52 (A485T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313715	NM_022553.6(VPS52):c.1567A>G (p.Ile523Val)	VPS52 (I398V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214531	NM_022553.6(VPS52):c.1555G>A (p.Ala519Thr)	VPS52 (A452T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189011	NM_022553.6(VPS52):c.1526T>G (p.Ile509Ser)	VPS52 (I442S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291092	NM_022553.6(VPS52):c.1499G>T (p.Gly500Val)	VPS52 (G433V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222458	NM_022553.6(VPS52):c.1426C>G (p.Leu476Val)	VPS52 (L287V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260323	NM_022553.6(VPS52):c.1391C>T (p.Ala464Val)	VPS52 (A397V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410175	NM_022553.6(VPS52):c.1303G>A (p.Ala435Thr)	VPS52 (A368T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782824	NM_022553.6(VPS52):c.1282-10A>T	VPS52	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2253739	NM_022553.6(VPS52):c.1197C>A (p.Phe399Leu)	VPS52 (F210L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770362	NM_022553.6(VPS52):c.1173C>T (p.Asp391=)	VPS52	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2597299	NM_022553.6(VPS52):c.1166T>C (p.Leu389Pro)	VPS52 (L200P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775237	NM_022553.6(VPS52):c.1161C>T (p.Tyr387=)	VPS52	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2482140	NM_022553.6(VPS52):c.1070C>G (p.Thr357Ser)	VPS52 (T290S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408850	NM_022553.6(VPS52):c.1045A>G (p.Thr349Ala)	VPS52 (T224A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334961	NM_022553.6(VPS52):c.927G>C (p.Lys309Asn)	VPS52 (K242N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269879	NM_022553.6(VPS52):c.924G>A (p.Met308Ile)	VPS52 (M183I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519198	NM_022553.6(VPS52):c.917G>A (p.Arg306Gln)	VPS52 (R181Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206163	NM_022553.6(VPS52):c.812A>G (p.Gln271Arg)	VPS52 (Q271R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532267	NM_022553.6(VPS52):c.769C>G (p.Gln257Glu)	VPS52 (Q257E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552931	NM_022553.6(VPS52):c.691C>T (p.Arg231Trp)	VPS52 (R231W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247519	NM_022553.6(VPS52):c.685C>T (p.Arg229Trp)	VPS52 (R104W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384171	NM_022553.6(VPS52):c.682G>T (p.Asp228Tyr)	VPS52 (D228Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342916	NM_022553.6(VPS52):c.622G>A (p.Ala208Thr)	VPS52 (A141T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317155	NM_022553.6(VPS52):c.608A>G (p.Asp203Gly)	VPS52 (D203G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482317	NM_022553.6(VPS52):c.602A>G (p.Glu201Gly)	VPS52 (E134G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189015	NM_022553.6(VPS52):c.493C>T (p.Arg165Trp)	VPS52 (R40W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404024	NM_022553.6(VPS52):c.470G>A (p.Arg157Gln)	VPS52 (R32Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703098	NM_022553.6(VPS52):c.373C>T (p.Arg125Ter)	VPS52 (R125* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2511513	NM_022553.6(VPS52):c.163G>C (p.Asp55His)	VPS52 (W5C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189012	NM_022553.6(VPS52):c.157A>T (p.Ile53Phe)	VPS52 (I53F)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3189017	NM_022553.6(VPS52):c.92C>T (p.Ala31Val)	VPS52 (A31V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2402676	NM_022553.6(VPS52):c.76G>A (p.Glu26Lys)	VPS52 (E26K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1703097	NM_022553.6(VPS52):c.64G>A (p.Asp22Asn)	VPS52 (D22N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2268497	NM_022553.6(VPS52):c.48G>T (p.Leu16Phe)	VPS52 (L16F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2247311	NM_022553.6(VPS52):c.19A>G (p.Met7Val)	VPS52 (M7V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3189016	NM_022553.6(VPS52):c.8C>T (p.Ala3Val)	VPS52 (A3V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 831717	NC_000006.12:g.(?_33173681)_(33451926_?)dup	B3GALT4, COL11A2 +17 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 50