SAP30BP[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 3157790	NM_013260.8(SAP30BP):c.8G>C (p.Gly3Ala)	LOC126862642, SAP30BP (G3A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299510	NM_013260.8(SAP30BP):c.10A>C (p.Lys4Gln)	LOC126862642, SAP30BP (K4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543940	NM_013260.8(SAP30BP):c.116G>A (p.Gly39Asp)	SAP30BP (G39D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559035	NM_013260.8(SAP30BP):c.171T>G (p.Asp57Glu)	SAP30BP (D57E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239707	NM_013260.8(SAP30BP):c.226G>A (p.Asp76Asn)	SAP30BP (D76N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592283	NM_013260.8(SAP30BP):c.239A>C (p.Glu80Ala)	SAP30BP (E80A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474282	NM_013260.8(SAP30BP):c.254A>G (p.Asp85Gly)	SAP30BP (D85G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484851	NM_013260.8(SAP30BP):c.289G>A (p.Asp97Asn)	SAP30BP (D97N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306045	NM_013260.8(SAP30BP):c.373G>A (p.Gly125Ser)	LOC126862643, SAP30BP (G125S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518680	NM_013260.8(SAP30BP):c.590A>G (p.Tyr197Cys)	SAP30BP (Y181C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157788	NM_013260.8(SAP30BP):c.674C>T (p.Thr225Met)	SAP30BP (T209M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333601	NM_013260.8(SAP30BP):c.703G>C (p.Ala235Pro)	SAP30BP (A219P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568903	NM_013260.8(SAP30BP):c.706A>G (p.Thr236Ala)	SAP30BP (T236A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157789	NM_013260.8(SAP30BP):c.800C>G (p.Ala267Gly)	LOC126862644, SAP30BP (A267G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229584	NM_013260.8(SAP30BP):c.848C>T (p.Thr283Met)	LOC126862644, SAP30BP (T283M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687680	GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3	ACOX1, FBF1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564473	GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	CASKIN2, CDK3 +21 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 560048	Single allele	LLGL2, RECQL5 +4 more	Duplication	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 32