MPV17L2[gene] - ClinVar

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

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
Select item 2334716	NM_032683.3(MPV17L2):c.13G>A (p.Gly5Ser)	MPV17L2 (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585039	NM_032683.3(MPV17L2):c.32G>A (p.Arg11His)	LOC130063985, MPV17L2 (R11H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2520818	NM_032683.3(MPV17L2):c.71C>T (p.Ala24Val)	LOC130063985, MPV17L2 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321584	NM_032683.3(MPV17L2):c.113C>A (p.Ala38Glu)	MPV17L2 (A38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258481	NM_032683.3(MPV17L2):c.214A>G (p.Met72Val)	MPV17L2 (M72V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2406875	NM_032683.3(MPV17L2):c.395G>A (p.Ser132Asn)	MPV17L2 (S132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203589	NM_032683.3(MPV17L2):c.500G>A (p.Arg167Gln)	MPV17L2 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525570	NM_032683.3(MPV17L2):c.568C>A (p.Pro190Thr)	MPV17L2 (P190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287332	NM_032683.3(MPV17L2):c.608C>T (p.Thr203Ile)	MPV17L2 (T203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394665	GRCh37/hg19 19p13.11(chr19:18304742-18311144)x3	MPV17L2, RAB3A	Copy number gain	See cases	GBenign

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: 20