ClinVar for Gene (Select 387707) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263734	NM_001349008.3(CC2D2B):c.3796C>A (p.Pro1266Thr)	CC2D2B, ENTPD1-AS1 (P230T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263733	NM_001349008.3(CC2D2B):c.3811T>C (p.Phe1271Leu)	CC2D2B, ENTPD1-AS1 (F1271L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263732	NM_001349008.3(CC2D2B):c.3904T>G (p.Tyr1302Asp)	ENTPD1-AS1, CC2D2B (Y266D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263731	NM_001349008.3(CC2D2B):c.4073T>G (p.Phe1358Cys)	CC2D2B, LOC126861005 +1 more (F322C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263730	NM_001349008.3(CC2D2B):c.3473C>A (p.Thr1158Lys)	CC2D2B, ENTPD1-AS1 (T1158K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263729	NM_001349008.3(CC2D2B):c.4130C>T (p.Thr1377Met)	CC2D2B, ENTPD1-AS1 (T341M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263728	NM_001349008.3(CC2D2B):c.3986G>A (p.Arg1329Gln)	CC2D2B, ENTPD1-AS1 +1 more (R293Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263727	NM_001349008.3(CC2D2B):c.4034G>C (p.Arg1345Pro)	CC2D2B, ENTPD1-AS1 +1 more (R309P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263726	NM_001349008.3(CC2D2B):c.4016A>G (p.Gln1339Arg)	CC2D2B, ENTPD1-AS1 +1 more (Q1339R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138176	NM_001349008.3(CC2D2B):c.3902T>C (p.Ile1301Thr)	CC2D2B, ENTPD1-AS1 (I265T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138175	NM_001349008.3(CC2D2B):c.3697C>A (p.Gln1233Lys)	CC2D2B, ENTPD1-AS1 (Q197K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138174	NM_001349008.3(CC2D2B):c.3647T>C (p.Val1216Ala)	CC2D2B, ENTPD1-AS1 (V1216A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138173	NM_001349008.3(CC2D2B):c.2972G>T (p.Gly991Val)	CC2D2B, ENTPD1-AS1 (G16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138172	NM_001349008.3(CC2D2B):c.3536T>C (p.Ile1179Thr)	CC2D2B, ENTPD1-AS1 (I1179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138171	NM_001349008.3(CC2D2B):c.3523A>G (p.Ile1175Val)	CC2D2B, ENTPD1-AS1 (I139V +1 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 2640723	NM_001349008.3(CC2D2B):c.1992C>T (p.Leu664=)	CC2D2B, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640722	NM_001349008.3(CC2D2B):c.1140G>A (p.Arg380=)	CC2D2B, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640721	NM_001349008.3(CC2D2B):c.265T>C (p.Leu89=)	C10orf131, CC2D2B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616348	NM_001349008.3(CC2D2B):c.3925A>T (p.Met1309Leu)	CC2D2B, ENTPD1-AS1 (M273L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606403	NM_001349008.3(CC2D2B):c.3646G>A (p.Val1216Ile)	CC2D2B, ENTPD1-AS1 (V1216I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601402	NM_001349008.3(CC2D2B):c.3779T>G (p.Ile1260Ser)	CC2D2B, ENTPD1-AS1 (I224S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2536002	NM_001349008.3(CC2D2B):c.3686C>G (p.Pro1229Arg)	CC2D2B, ENTPD1-AS1 (P1229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534895	NM_001349008.3(CC2D2B):c.3602T>C (p.Leu1201Pro)	CC2D2B, ENTPD1-AS1 (L165P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514986	NM_001349008.3(CC2D2B):c.3302G>A (p.Arg1101Gln)	CC2D2B, ENTPD1-AS1 (R1101Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511992	NM_001349008.3(CC2D2B):c.4286A>G (p.Tyr1429Cys)	CC2D2B, ENTPD1-AS1 (Y1429C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511773	NM_001349008.3(CC2D2B):c.4265A>G (p.Asn1422Ser)	CC2D2B, ENTPD1-AS1 (N1422S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381004	NM_001349008.3(CC2D2B):c.411G>C (p.Glu137Asp)	C10orf131, CC2D2B +1 more (E137D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333435	NM_001349008.3(CC2D2B):c.3491G>C (p.Gly1164Ala)	CC2D2B, ENTPD1-AS1 (G128A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300578	NM_001349008.3(CC2D2B):c.3040T>C (p.Ser1014Pro)	CC2D2B, ENTPD1-AS1 (S39P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287807	NM_001349008.3(CC2D2B):c.3433A>T (p.Ile1145Phe)	CC2D2B, ENTPD1-AS1 (I109F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235105	NM_001349008.3(CC2D2B):c.3617C>T (p.Thr1206Met)	CC2D2B, ENTPD1-AS1 (T170M +1 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 1340691	GRCh37/hg19 10q24.1(chr10:97720634-97781171)x1	CC2D2B	Copy number loss	not provided	GLikely benign
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 154235	GRCh38/hg38 10q24.1(chr10:95790119-96029414)x1	C10orf131, CC2D2B +13 more	Copy number loss	See cases	GLikely benign
Select item 59401	GRCh38/hg38 10q24.1(chr10:95606298-95966000)x1	C10orf131, CC2D2B +24 more	Copy number loss	See cases	GUncertain significance
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: 53