CPSF4L[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
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 152856	GRCh38/hg38 17q25.1(chr17:73031361-73264388)x3	C17orf80, COG1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2255271	NM_001351264.2(MTNAP1):c.1663G>A (p.Gly555Ser)	CPSF4L, MTNAP1 (G555S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295033	NM_001351264.2(MTNAP1):c.1801G>A (p.Asp601Asn)	CPSF4L, MTNAP1 (D601N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518460	NM_001129885.1(CPSF4L):c.488A>C (p.Gln163Pro)	CPSF4L (Q163P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296002	NM_001129885.1(CPSF4L):c.441G>A (p.Met147Ile)	CPSF4L (M147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238722	NM_001129885.1(CPSF4L):c.434G>A (p.Arg145Lys)	CPSF4L (R145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224184	NM_001129885.1(CPSF4L):c.424C>T (p.His142Tyr)	CPSF4L (H142Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076895	NM_001129885.1(CPSF4L):c.360G>C (p.Lys120Asn)	CPSF4L (K120N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329305	NM_001129885.1(CPSF4L):c.332C>G (p.Ser111Cys)	CPSF4L (S111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302378	NM_001129885.1(CPSF4L):c.218G>A (p.Arg73Gln)	CPSF4L (R73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076894	NM_001129885.1(CPSF4L):c.188A>C (p.Glu63Ala)	CPSF4L (E63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269280	NM_001129885.1(CPSF4L):c.166C>G (p.Pro56Ala)	CPSF4L (P56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552445	NM_001129885.1(CPSF4L):c.149A>C (p.Glu50Ala)	CPSF4L (E50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400497	NM_001129885.1(CPSF4L):c.130T>G (p.Phe44Val)	CPSF4L (F44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410460	NM_001129885.1(CPSF4L):c.118G>T (p.Val40Leu)	CPSF4L (V40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331502	NM_001129885.1(CPSF4L):c.74C>A (p.Thr25Asn)	CPSF4L (T25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256860	NM_001129885.1(CPSF4L):c.73A>C (p.Thr25Pro)	CPSF4L (T25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685607	GRCh37/hg19 17q24.3-25.1(chr17:69501527-71380722)x1	CDC42EP4, COG1 +7 more	Copy number loss	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 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
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 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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: 29