ClinVar for Gene (Select 84769) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2520818	NM_032683.3(MPV17L2):c.71C>T (p.Ala24Val)	LOC130063985, MPV17L2 (A24V)	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 2406875	NM_032683.3(MPV17L2):c.395G>A (p.Ser132Asn)	MPV17L2 (S132N)	Single nucleotide variant (missense variant)	not specified	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 2321584	NM_032683.3(MPV17L2):c.113C>A (p.Ala38Glu)	MPV17L2 (A38E)	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 1258481	NM_032683.3(MPV17L2):c.214A>G (p.Met72Val)	MPV17L2 (M72V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
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 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
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
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 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20