CPSF6[gene] - ClinVar

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Items: 31

	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 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 2482070	NM_007007.3(CPSF6):c.111A>G (p.Ile37Met)	CPSF6 (I37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277437	NM_007007.3(CPSF6):c.301G>A (p.Val101Ile)	CPSF6 (V101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267806	NM_007007.3(CPSF6):c.352C>T (p.Arg118Trp)	CPSF6 (R118W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076900	NM_007007.3(CPSF6):c.466G>A (p.Val156Ile)	CPSF6 (V156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282447	NM_007007.3(CPSF6):c.617G>A (p.Arg206His)	CPSF6 (R206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076901	NM_007007.3(CPSF6):c.637G>A (p.Gly213Ser)	CPSF6 (G213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209100	NM_007007.3(CPSF6):c.679C>G (p.Pro227Ala)	CPSF6 (P227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076902	NM_007007.3(CPSF6):c.685C>T (p.Pro229Ser)	CPSF6 (P229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556487	NM_007007.3(CPSF6):c.814C>T (p.Arg272Cys)	CPSF6 (R309C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076903	NM_007007.3(CPSF6):c.862C>T (p.Pro288Ser)	CPSF6 (P288S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299969	NM_007007.3(CPSF6):c.916C>G (p.Pro306Ala)	CPSF6 (P306A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274600	NM_007007.3(CPSF6):c.965C>T (p.Pro322Leu)	CPSF6 (P359L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243781	NM_007007.3(CPSF6):c.977G>A (p.Arg326His)	CPSF6 (R363H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076904	NM_007007.3(CPSF6):c.986G>C (p.Gly329Ala)	CPSF6 (G329A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411535	NM_007007.3(CPSF6):c.1147C>G (p.Pro383Ala)	CPSF6 (P383A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076897	NM_007007.3(CPSF6):c.1196G>A (p.Gly399Glu)	CPSF6 (G436E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076898	NM_007007.3(CPSF6):c.1408A>G (p.Ile470Val)	CPSF6 (I470V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339397	NM_007007.3(CPSF6):c.1554C>A (p.Asp518Glu)	CPSF6 (D518E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340736	NM_007007.3(CPSF6):c.1623G>C (p.Glu541Asp)	CPSF6 (E578D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076899	NM_007007.3(CPSF6):c.1636C>T (p.Arg546Cys)	CPSF6 (R583C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 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

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Items: 31