ClinVar for Gene (Select 738) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332292	NM_013265.4(VPS51):c.1047T>G (p.Phe349Leu)	VPS51 (F349L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332291	NM_013265.4(VPS51):c.1811T>C (p.Leu604Pro)	VPS51 (L604P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332290	NM_013265.4(VPS51):c.1701G>T (p.Glu567Asp)	VPS51 (E567D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332289	NM_013265.4(VPS51):c.1910A>G (p.Lys637Arg)	VPS51 (K637R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332288	NM_013265.4(VPS51):c.307G>A (p.Asp103Asn)	VPS51 (D103N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332287	NM_013265.4(VPS51):c.1060C>T (p.Arg354Trp)	VPS51 (R354W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189010	NM_013265.4(VPS51):c.88C>T (p.Arg30Trp)	VPS51 (R30W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189009	NM_013265.4(VPS51):c.700G>T (p.Ala234Ser)	VPS51 (A234S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189008	NM_013265.4(VPS51):c.69G>C (p.Glu23Asp)	VPS51 (E23D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189007	NM_013265.4(VPS51):c.64C>T (p.Pro22Ser)	VPS51 (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189006	NM_013265.4(VPS51):c.557G>A (p.Arg186His)	VPS51 (R186H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189005	NM_013265.4(VPS51):c.488G>A (p.Arg163His)	VPS51 (R163H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189004	NM_013265.4(VPS51):c.467C>T (p.Thr156Met)	VPS51 (T156M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189003	NM_013265.4(VPS51):c.2006C>T (p.Pro669Leu)	VPS51 (P669L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189002	NM_013265.4(VPS51):c.14C>T (p.Ala5Val)	VPS51 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189001	NM_013265.4(VPS51):c.1429A>C (p.Lys477Gln)	VPS51 (K477Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189000	NM_013265.4(VPS51):c.1376C>T (p.Ala459Val)	VPS51 (A459V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188999	NM_013265.4(VPS51):c.1217G>A (p.Arg406His)	VPS51 (R406H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188998	NM_013265.4(VPS51):c.1105G>T (p.Val369Leu)	VPS51 (V369L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188997	NM_013265.4(VPS51):c.1070C>T (p.Ala357Val)	VPS51 (A357V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188996	NM_013265.4(VPS51):c.1020C>G (p.Phe340Leu)	VPS51 (F340L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067332	NM_013265.4(VPS51):c.719G>A (p.Arg240His)	VPS51 (R240H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3059741	NM_013265.4(VPS51):c.1908C>A (p.Arg636=)	VPS51	Single nucleotide variant (synonymous variant +1 more)	VPS51-related disorder	GLikely benign
Select item 3052837	NM_013265.4(VPS51):c.1161C>T (p.Ala387=)	VPS51	Single nucleotide variant (synonymous variant +1 more)	VPS51-related disorder	GLikely benign
Select item 3040843	NM_013265.4(VPS51):c.1167C>T (p.Ala389=)	VPS51	Single nucleotide variant (synonymous variant +1 more)	VPS51-related disorder	GLikely benign
Select item 3036541	NM_013265.4(VPS51):c.420C>T (p.Ala140=)	VPS51	Single nucleotide variant (synonymous variant +1 more)	VPS51-related disorder	GLikely benign
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641948	NM_013265.4(VPS51):c.2069G>C (p.Ser690Thr)	VPS51 (S690T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2641947	NM_013265.4(VPS51):c.1683G>C (p.Val561=)	VPS51	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641946	NM_013265.4(VPS51):c.1329C>G (p.Ala443=)	VPS51	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641945	NM_013265.4(VPS51):c.696C>G (p.Arg232=)	VPS51	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641944	NM_013265.4(VPS51):c.654G>C (p.Ser218=)	VPS51	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624239	NM_013265.4(VPS51):c.1654G>A (p.Val552Met)	VPS51 (V552M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618492	NM_013265.4(VPS51):c.743C>T (p.Ala248Val)	VPS51 (A248V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556211	NM_013265.4(VPS51):c.311T>C (p.Met104Thr)	VPS51 (M104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541120	NM_013265.4(VPS51):c.1298G>C (p.Arg433Pro)	VPS51 (R433P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531499	NM_013265.4(VPS51):c.2290T>G (p.Cys764Gly)	VPS51 (C764G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529218	NM_013265.4(VPS51):c.1944C>G (p.Phe648Leu)	VPS51 (F648L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522236	NM_013265.4(VPS51):c.989G>T (p.Gly330Val)	VPS51 (G330V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516405	NM_013265.4(VPS51):c.659G>A (p.Arg220His)	VPS51 (R220H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512308	NM_013265.4(VPS51):c.1721G>A (p.Arg574Gln)	VPS51 (R574Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483188	NM_013265.4(VPS51):c.2093C>T (p.Ser698Leu)	VPS51 (S698L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475990	NM_013265.4(VPS51):c.200A>T (p.His67Leu)	VPS51 (H67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474690	NM_013265.4(VPS51):c.143C>T (p.Ala48Val)	VPS51 (A48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470248	NM_013265.4(VPS51):c.1094A>G (p.Asn365Ser)	VPS51 (N365S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468777	NM_013265.4(VPS51):c.1013C>T (p.Ala338Val)	VPS51 (A338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462064	NM_013265.4(VPS51):c.1505G>A (p.Cys502Tyr)	VPS51 (C502Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457601	NM_013265.4(VPS51):c.1988G>A (p.Ser663Asn)	VPS51 (S663N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456949	NM_013265.4(VPS51):c.483C>G (p.His161Gln)	VPS51 (H161Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2404552	NM_013265.4(VPS51):c.1441C>T (p.Arg481Trp)	VPS51 (R481W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403096	NM_013265.4(VPS51):c.1243C>T (p.Arg415Trp)	VPS51 (R415W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392734	NM_013265.4(VPS51):c.1493T>C (p.Val498Ala)	VPS51 (V498A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384441	NM_013265.4(VPS51):c.201C>G (p.His67Gln)	VPS51 (H67Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382613	NM_013265.4(VPS51):c.1132C>T (p.Arg378Cys)	VPS51 (R378C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372159	NM_013265.4(VPS51):c.697C>A (p.Leu233Met)	VPS51 (L233M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366203	NM_013265.4(VPS51):c.32C>T (p.Pro11Leu)	VPS51 (P11L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337969	NM_013265.4(VPS51):c.1144C>A (p.Pro382Thr)	VPS51 (P382T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331243	NM_013265.4(VPS51):c.1330G>A (p.Glu444Lys)	VPS51 (E444K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317791	NM_013265.4(VPS51):c.745C>T (p.Pro249Ser)	VPS51 (P249S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274813	NM_013265.4(VPS51):c.1688C>T (p.Thr563Met)	VPS51 (T563M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263260	NM_013265.4(VPS51):c.1906C>T (p.Arg636Cys)	VPS51 (R636C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259976	NM_013265.4(VPS51):c.2272G>A (p.Ala758Thr)	VPS51 (A758T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259902	NM_013265.4(VPS51):c.1801C>A (p.Leu601Ile)	VPS51 (L601I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257499	NM_013265.4(VPS51):c.1550G>A (p.Gly517Asp)	VPS51 (G517D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216679	NM_013265.4(VPS51):c.978T>A (p.Phe326Leu)	VPS51 (F326L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210717	NM_013265.4(VPS51):c.1244G>A (p.Arg415Gln)	VPS51 (R415Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205724	NM_013265.4(VPS51):c.961G>A (p.Ala321Thr)	VPS51 (A321T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703249	NM_013265.4(VPS51):c.1878+42G>A	VPS51	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, type 13	GUncertain significance
Select item 1698446	NM_013265.4(VPS51):c.419CCA[1] (p.Thr141del)	VPS51 (T141del)	Microsatellite (inframe_deletion +1 more)	Pontocerebellar hypoplasia, type 13	GUncertain significance
Select item 1675459	NM_013265.4(VPS51):c.1443+4C>T	VPS51	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1334697	NM_013265.4(VPS51):c.1408A>T (p.Lys470Ter)	VPS51 (K470*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1298514	NM_013265.4(VPS51):c.2034C>A (p.Ile678=)	VPS51	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1267066	NM_013265.4(VPS51):c.1444-12C>T	VPS51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262736	NM_013265.4(VPS51):c.228+26del	VPS51	Deletion (intron variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 784192	NM_013265.4(VPS51):c.1879-7C>T	VPS51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 741570	NM_013265.4(VPS51):c.228+8C>T	VPS51	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 691590	NM_013265.4(VPS51):c.1421_1423del (p.Phe474del)	VPS51 (F474del)	Deletion (inframe_deletion +1 more)	Pontocerebellar hypoplasia, type 13	GPathogenic
Select item 691589	NM_013265.4(VPS51):c.1468C>T (p.Arg490Cys)	VPS51 (R490C)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 691588	NM_013265.4(VPS51):c.2232del (p.Asp745fs)	VPS51 (D745fs)	Deletion (non-coding transcript variant +1 more)	Pontocerebellar hypoplasia, type 13	GPathogenic
Select item 687992	GRCh37/hg19 11q13.1(chr11:64396501-64883447)x3	ARL2, ATG2A +21 more	Copy number gain	not provided	GUncertain significance
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 90