VMP1[gene] - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 146320	GRCh38/hg38 17q22-23.1(chr17:59481220-59756756)x1	CLTC, DHX40 +10 more	Copy number loss	See cases	GUncertain significance
Select item 3332113	NM_030938.5(VMP1):c.52G>A (p.Glu18Lys)	VMP1 (E18K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368407	NM_030938.5(VMP1):c.165G>T (p.Gln55His)	VMP1 (Q55H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 222959	NM_030938.5(VMP1):c.331_332del (p.Leu111fs)	VMP1 (L111fs +1 more)	Deletion (frameshift variant +2 more)	Monoclonal B-Cell Lymphocytosis	GUncertain significance
Select item 2275189	NM_030938.5(VMP1):c.485A>G (p.Tyr162Cys)	VMP1 (Y65C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456295	NM_030938.5(VMP1):c.529A>G (p.Thr177Ala)	VMP1 (T43A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2356929	NM_030938.5(VMP1):c.830C>T (p.Thr277Met)	VMP1 (T124M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328493	NM_030938.5(VMP1):c.1066G>T (p.Gly356Cys)	LOC114827848, VMP1 (G164C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188701	NM_030938.5(VMP1):c.1094C>T (p.Ser365Phe)	VMP1 (S268F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383200	NM_030938.5(VMP1):c.1117G>A (p.Val373Ile)	VMP1 (V317I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523541	NM_030938.5(VMP1):c.1141C>G (p.Leu381Val)	VMP1 (L344V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527924	NM_030938.5(VMP1):c.1147A>C (p.Ile383Leu)	VMP1 (I230L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526582	GRCh37/hg19 17q23.1(chr17:57792473-57913522)	VMP1	Copy number loss	not specified	GUncertain significance
Select item 1526581	GRCh37/hg19 17q23.1(chr17:57665341-57873701)	CLTC, DHX40 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	APPBP2, BCAS3 +13 more	Copy number loss	not provided	GPathogenic
Select item 815942	GRCh37/hg19 17q23.1(chr17:57616400-57986918)x1	TUBD1, VMP1 +5 more	Copy number loss	not provided	GLikely pathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 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: 28