BTG1[gene] - ClinVar - NCBI

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Items: 18

	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 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 3135476	NM_001731.3(BTG1):c.478C>T (p.Pro160Ser)	BTG1 (P160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135475	NM_001731.3(BTG1):c.470G>A (p.Arg157Lys)	BTG1 (R157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269341	NM_001731.3(BTG1):c.397A>G (p.Ser133Gly)	BTG1 (S133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257977	NM_001731.3(BTG1):c.133C>T (p.Gln45Ter)	BTG1 (Q45*)	Single nucleotide variant (nonsense)	Neoplasm	OUncertain significance
Select item 2681586	NM_001731.3(BTG1):c.108G>A (p.Gln36=)	BTG1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2620215	NM_001731.3(BTG1):c.52G>T (p.Ala18Ser)	BTG1 (A18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273957	NM_001731.3(BTG1):c.36A>G (p.Ile12Met)	BTG1 (I12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620521	NM_001731.3(BTG1):c.16A>C (p.Thr6Pro)	BTG1 (T6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063231	GRCh37/hg19 12q21.33-22(chr12:92154559-93692934)x3	BTG1, C12orf74 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527724	GRCh37/hg19 12q21.33-22(chr12:91073628-92829926)	BTG1, CCER1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
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