SCAMP1[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 2549006	NM_004866.6(SCAMP1):c.421A>G (p.Ile141Val)	SCAMP1 (I115V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276042	NM_004866.6(SCAMP1):c.526G>A (p.Val176Ile)	SCAMP1 (V176I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424719	NC_000005.9:g.(?_76115008)_(78281071_?)del	AGGF1, AP3B1 +11 more	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 1809020	GRCh37/hg19 5q14.1(chr5:77746948-79089197)x1	ARSB, BHMT +8 more	Copy number loss	not provided	GUncertain significance
Select item 1527172	GRCh37/hg19 5q14.1(chr5:77160381-77691354)	AP3B1, SCAMP1	Copy number gain	not specified	GUncertain significance
Select item 1073286	NC_000005.9:g.(?_77385207)_(78135259_?)del	AP3B1, ARSB +2 more	Deletion	Mucopolysaccharidosis type 6	GPathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic