VPS54[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 58871	GRCh38/hg38 2p15-14(chr2:63867188-64294742)x3	LINC00309, LOC100507006 +21 more	Copy number gain	See cases	GUncertain significance
Select item 3332299	NM_016516.3(VPS54):c.2873C>A (p.Ala958Asp)	VPS54 (A958D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189033	NM_016516.3(VPS54):c.2858C>T (p.Thr953Ile)	VPS54 (T953I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1210060	NM_016516.3(VPS54):c.2736G>T (p.Met912Ile)	VPS54 (M900I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 760240	NM_016516.3(VPS54):c.2626-7C>T	VPS54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209896	NM_016516.3(VPS54):c.2625+9T>A	VPS54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2377889	NM_016516.3(VPS54):c.2507A>G (p.Gln836Arg)	VPS54 (Q824R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189032	NM_016516.3(VPS54):c.2474G>A (p.Arg825Gln)	VPS54 (R825Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600728	NM_016516.3(VPS54):c.2386G>C (p.Val796Leu)	VPS54 (V784L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332301	NM_016516.3(VPS54):c.2321C>T (p.Ser774Leu)	VPS54 (S762L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236926	NM_016516.3(VPS54):c.2286C>G (p.Ile762Met)	VPS54 (I750M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1210078	NM_016516.3(VPS54):c.2228+14T>A	VPS54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209950	NM_016516.3(VPS54):c.2228+13T>G	VPS54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2301219	NM_016516.3(VPS54):c.2194C>G (p.Leu732Val)	VPS54 (L720V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381486	NM_016516.3(VPS54):c.2030A>G (p.Glu677Gly)	VPS54 (E677G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464969	NM_016516.3(VPS54):c.1956C>G (p.Ile652Met)	VPS54 (I640M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808754	NM_016516.3(VPS54):c.1946C>G (p.Thr649Ser)	VPS54 (T649S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3189031	NM_016516.3(VPS54):c.1933T>C (p.Phe645Leu)	VPS54 (F633L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189030	NM_016516.3(VPS54):c.1864G>A (p.Ala622Thr)	VPS54 (A622T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334628	NM_016516.3(VPS54):c.1847A>G (p.Lys616Arg)	VPS54 (K604R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301218	NM_016516.3(VPS54):c.1838G>A (p.Arg613Gln)	VPS54 (R601Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808755	NM_016516.3(VPS54):c.1770A>G (p.Ser590=)	VPS54	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 808756	NM_016516.3(VPS54):c.1721C>G (p.Pro574Arg)	VPS54 (P574R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2466275	NM_016516.3(VPS54):c.1703C>T (p.Thr568Ile)	VPS54 (T568I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775722	NM_016516.3(VPS54):c.1682C>G (p.Ser561Cys)	VPS54 (S561C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2404693	NM_016516.3(VPS54):c.1595T>C (p.Val532Ala)	VPS54 (V520A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263542	NM_016516.3(VPS54):c.1592C>T (p.Ala531Val)	VPS54 (A519V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332298	NM_016516.3(VPS54):c.1577A>G (p.Glu526Gly)	VPS54 (E514G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189029	NM_016516.3(VPS54):c.1574G>C (p.Gly525Ala)	VPS54 (G513A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457864	NM_016516.3(VPS54):c.1567G>A (p.Gly523Ser)	VPS54 (G511S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484543	NM_016516.3(VPS54):c.1554A>G (p.Ile518Met)	VPS54 (I506M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189028	NM_016516.3(VPS54):c.1513G>A (p.Asp505Asn)	VPS54 (D505N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263762	NM_016516.3(VPS54):c.1414A>C (p.Ile472Leu)	VPS54 (I460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494629	NM_016516.3(VPS54):c.1328A>T (p.Asn443Ile)	VPS54 (N443I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808757	NM_016516.3(VPS54):c.1057A>G (p.Met353Val)	VPS54 (M341V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3189027	NM_016516.3(VPS54):c.1004G>A (p.Ser335Asn)	VPS54 (S335N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529580	NM_016516.3(VPS54):c.922T>A (p.Ser308Thr)	VPS54 (S308T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525402	NM_016516.3(VPS54):c.894G>C (p.Gln298His)	VPS54 (Q286H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300366	NM_016516.3(VPS54):c.891C>G (p.His297Gln)	VPS54 (H285Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189037	NM_016516.3(VPS54):c.826C>G (p.Leu276Val)	VPS54 (L264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303052	NM_016516.3(VPS54):c.790A>G (p.Lys264Glu)	VPS54 (K252E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384814	NM_016516.3(VPS54):c.718G>A (p.Glu240Lys)	VPS54 (E240K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189036	NM_016516.3(VPS54):c.707C>G (p.Thr236Ser)	VPS54 (T236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1210077	NM_016516.3(VPS54):c.636T>C (p.Tyr212=)	VPS54	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2241022	NM_016516.3(VPS54):c.589C>T (p.Arg197Cys)	VPS54 (R197C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189035	NM_016516.3(VPS54):c.562T>G (p.Phe188Val)	VPS54 (F176V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805793	NM_016516.3(VPS54):c.501G>C (p.Met167Ile)	VPS54 (M155I +1 more)	Single nucleotide variant (missense variant)	Tooth agenesis	GUncertain significance
Select item 3189034	NM_016516.3(VPS54):c.478G>C (p.Glu160Gln)	VPS54 (E160Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232155	NM_016516.3(VPS54):c.452C>T (p.Thr151Ile)	VPS54 (T151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332300	NM_016516.3(VPS54):c.393T>G (p.His131Gln)	VPS54 (H119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517399	NM_016516.3(VPS54):c.301A>G (p.Thr101Ala)	VPS54 (T101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767802	NM_016516.3(VPS54):c.234C>T (p.Asn78=)	VPS54	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2541694	NM_016516.3(VPS54):c.134C>T (p.Thr45Ile)	VPS54 (T45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216435	NM_016516.3(VPS54):c.77C>T (p.Pro26Leu)	VPS54 (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309825	NM_016516.3(VPS54):c.76C>G (p.Pro26Ala)	VPS54 (P26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388188	NM_016516.3(VPS54):c.56T>C (p.Phe19Ser)	VPS54 (F19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526796	GRCh37/hg19 2p14(chr2:64103740-64802404)	AFTPH, LGALSL +3 more	Copy number gain	not specified	GUncertain significance
Select item 1062698	NC_000002.11:g.(?_62991401)_(64335444_?)dup	EHBP1, MDH1 +5 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 687379	GRCh37/hg19 2p15-14(chr2:63536353-65793944)x1	ACTR2, AFTPH +11 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443261	GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1	ACTR2, AFTPH +16 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71