SCAMP3[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2464635	NM_005698.4(SCAMP3):c.1034G>A (p.Arg345Gln)	SCAMP3 (R319Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315227	NM_005698.4(SCAMP3):c.989C>T (p.Thr330Ile)	SCAMP3 (T304I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158216	NM_005698.4(SCAMP3):c.956C>T (p.Ala319Val)	SCAMP3 (A293V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273081	NM_005698.4(SCAMP3):c.922G>A (p.Gly308Ser)	SCAMP3 (G282S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489287	NM_005698.4(SCAMP3):c.917G>A (p.Arg306His)	SCAMP3 (R280H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259307	NM_005698.4(SCAMP3):c.904T>G (p.Ser302Ala)	SCAMP3 (S302A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158215	NM_005698.4(SCAMP3):c.896G>A (p.Arg299Gln)	SCAMP3 (R273Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335388	NM_005698.4(SCAMP3):c.895C>T (p.Arg299Trp)	SCAMP3 (R273W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359486	NM_005698.4(SCAMP3):c.848C>T (p.Ala283Val)	SCAMP3 (A257V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158214	NM_005698.4(SCAMP3):c.847G>T (p.Ala283Ser)	SCAMP3 (A257S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298011	NM_005698.4(SCAMP3):c.847G>A (p.Ala283Thr)	SCAMP3 (A257T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213034	NM_005698.4(SCAMP3):c.839T>C (p.Leu280Pro)	SCAMP3 (L280P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158213	NM_005698.4(SCAMP3):c.812G>A (p.Gly271Asp)	SCAMP3 (G245D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158212	NM_005698.4(SCAMP3):c.806C>T (p.Pro269Leu)	SCAMP3 (P243L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158211	NM_005698.4(SCAMP3):c.797T>C (p.Leu266Pro)	SCAMP3 (L240P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158210	NM_005698.4(SCAMP3):c.736C>T (p.Leu246Phe)	SCAMP3 (L220F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158209	NM_005698.4(SCAMP3):c.656G>A (p.Arg219His)	SCAMP3 (R193H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322103	NM_005698.4(SCAMP3):c.548T>A (p.Leu183His)	SCAMP3 (L157H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158208	NM_005698.4(SCAMP3):c.500T>C (p.Met167Thr)	SCAMP3 (M167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548061	NM_005698.4(SCAMP3):c.454A>T (p.Ile152Phe)	SCAMP3 (I152F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334070	NM_005698.4(SCAMP3):c.415C>T (p.Pro139Ser)	SCAMP3 (P113S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261196	NM_005698.4(SCAMP3):c.352C>G (p.Arg118Gly)	SCAMP3 (R118G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158207	NM_005698.4(SCAMP3):c.322C>T (p.Arg108Trp)	SCAMP3 (R82W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537975	NM_005698.4(SCAMP3):c.277G>C (p.Ala93Pro)	SCAMP3 (A67P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244916	NM_005698.4(SCAMP3):c.239C>T (p.Pro80Leu)	SCAMP3 (P54L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293974	NM_005698.4(SCAMP3):c.209A>C (p.Gln70Pro)	SCAMP3 (Q70P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316359	NM_005698.4(SCAMP3):c.202T>A (p.Ser68Thr)	SCAMP3 (S42T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254288	NM_005698.4(SCAMP3):c.70C>T (p.Pro24Ser)	SCAMP3 (P24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 45