SENP1[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 779947	NM_001267594.2(SENP1):c.1211A>G (p.Gln404Arg)	SENP1 (Q404R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774213	NM_001267594.2(SENP1):c.238A>G (p.Ser80Gly)	SENP1 (S80G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3244373	NC_000012.11:g.(?_48238529)_(48539491_?)del	COL2A1, PFKM +3 more	Deletion	not provided	GPathogenic
Select item 1809473	GRCh37/hg19 12q13.11(chr12:48380031-48542853)x3	ASB8, COL2A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 1019837	NC_000012.11:g.(?_48240430)_(48539491_?)dup	PFKM, SENP1 +3 more	Duplication	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic