ClinVar for Gene (Select 126003) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3182007	NM_001042462.2(TRAPPC5):c.53C>T (p.Ala18Val)	LOC125371467, TRAPPC5 (A18V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182006	NM_001042462.2(TRAPPC5):c.538G>A (p.Ala180Thr)	TRAPPC5 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182005	NM_001042462.2(TRAPPC5):c.431C>T (p.Ala144Val)	TRAPPC5 (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182004	NM_001042462.2(TRAPPC5):c.296G>T (p.Gly99Val)	TRAPPC5 (G99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182003	NM_001042462.2(TRAPPC5):c.203C>G (p.Ala68Gly)	TRAPPC5 (A68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182002	NM_001042462.2(TRAPPC5):c.158G>A (p.Arg53His)	TRAPPC5 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618727	NM_001042462.2(TRAPPC5):c.422G>T (p.Ser141Ile)	TRAPPC5 (S141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596902	NM_001042462.2(TRAPPC5):c.47C>G (p.Ala16Gly)	LOC125371467, TRAPPC5 (A16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556205	NM_001042462.2(TRAPPC5):c.335C>T (p.Ala112Val)	TRAPPC5 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471767	NM_001042462.2(TRAPPC5):c.295G>A (p.Gly99Ser)	TRAPPC5 (G99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 2253451	NM_001042462.2(TRAPPC5):c.439G>T (p.Val147Leu)	TRAPPC5 (V147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236510	NM_001042462.2(TRAPPC5):c.217G>A (p.Glu73Lys)	TRAPPC5 (E73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327246	NM_001042462.2(TRAPPC5):c.306G>A (p.Ala102=)	TRAPPC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1327245	NM_001042462.2(TRAPPC5):c.154T>G (p.Ser52Ala)	TRAPPC5 (S52A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	CCL25, MCOLN1 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 393843	GRCh37/hg19 19p13.2(chr19:7747084-7793833)x3	FCER2, TRAPPC5	Copy number gain	See cases	GUncertain significance
Select item 89071	NM_001042462.2(TRAPPC5):c.548G>C (p.Arg183Pro)	TRAPPC5 (R183P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26