CPSF7[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 146819	GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3	CPSF7, DAGLA +30 more	Copy number gain	See cases	GLikely benign
Select item 2252679	NM_001142565.3(CPSF7):c.1185A>C (p.Glu395Asp)	CPSF7 (E404D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462299	NM_001142565.3(CPSF7):c.710C>T (p.Pro237Leu)	CPSF7 (P237L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076909	NM_001142565.3(CPSF7):c.613C>T (p.Arg205Cys)	CPSF7 (R205C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247995	NM_001142565.3(CPSF7):c.596T>C (p.Leu199Pro)	CPSF7 (L199P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266084	NM_001142565.3(CPSF7):c.594C>A (p.Asn198Lys)	CPSF7 (N198K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161527	NM_001142565.3(CPSF7):c.523+2dup	CPSF7 (E176* +1 more)	Duplication (nonsense +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 2539544	NM_001142565.3(CPSF7):c.451A>C (p.Asn151His)	CPSF7 (N194H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269281	NM_001142565.3(CPSF7):c.430C>T (p.Leu144Phe)	CPSF7 (L187F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076908	NM_001142565.3(CPSF7):c.313A>G (p.Ile105Val)	CPSF7 (I105V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523679	NM_001142565.3(CPSF7):c.232C>T (p.Arg78Cys)	CPSF7 (R121C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076907	NM_001142565.3(CPSF7):c.221A>G (p.Tyr74Cys)	CPSF7 (Y117C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076906	NM_001142565.3(CPSF7):c.200C>A (p.Thr67Asn)	CPSF7 (T67N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301845	NM_001142565.3(CPSF7):c.167G>A (p.Arg56His)	CPSF7 (R99H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269283	NM_001142565.3(CPSF7):c.-56+150C>T	CPSF7 (R23W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404874	NM_001142565.3(CPSF7):c.-56+123C>G	CPSF7 (P14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2423926	NC_000011.9:g.(?_61165722)_(61197674_?)dup	CPSF7, SDHAF2 +1 more	Duplication	Familial aplasia of the vermis	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 30