ClinVar for Gene (Select 54619) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264569	NM_001134375.2(CCNJ):c.14G>T (p.Gly5Val)	CCNJ, ENTPD1-AS1 (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139952	NM_001134375.2(CCNJ):c.94G>A (p.Gly32Ser)	CCNJ, ENTPD1-AS1 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139951	NM_001134375.2(CCNJ):c.917C>T (p.Ser306Leu)	CCNJ, ENTPD1-AS1 (S295L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139950	NM_001134375.2(CCNJ):c.752A>T (p.Asn251Ile)	CCNJ, ENTPD1-AS1 (N239I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2681704	NM_001134375.2(CCNJ):c.948G>A (p.Ser316=)	CCNJ, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2519420	NM_001134375.2(CCNJ):c.473C>G (p.Ala158Gly)	CCNJ, ENTPD1-AS1 (A158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517868	NM_001134375.2(CCNJ):c.841C>T (p.Arg281Trp)	CCNJ, ENTPD1-AS1 (R270W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491309	NM_001134375.2(CCNJ):c.1016T>C (p.Leu339Pro)	CCNJ, ENTPD1-AS1 (L328P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466759	NM_001134375.2(CCNJ):c.685C>T (p.Arg229Cys)	CCNJ, ENTPD1-AS1 (R229C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463092	NM_001134375.2(CCNJ):c.996C>G (p.Phe332Leu)	CCNJ, ENTPD1-AS1 (F320L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387662	NM_001134375.2(CCNJ):c.653G>A (p.Arg218His)	CCNJ, ENTPD1-AS1 (R206H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371023	NM_001134375.2(CCNJ):c.806A>C (p.Gln269Pro)	CCNJ, ENTPD1-AS1 (Q257P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242475	NM_001134375.2(CCNJ):c.695C>T (p.Ala232Val)	CCNJ, ENTPD1-AS1 (A232V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239221	NM_001134375.2(CCNJ):c.386A>G (p.His129Arg)	CCNJ, ENTPD1-AS1 (H129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231875	NM_001134375.2(CCNJ):c.1004G>A (p.Ser335Asn)	CCNJ, ENTPD1-AS1 (S335N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 1062671	NC_000010.10:g.(?_97366499)_(98031175_?)dup	TCTN3, ZNF518A +6 more	Duplication	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34