ClinVar for Gene (Select 26287) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296660	NM_001346793.2(ANKRD2):c.54C>G (p.Ile18Met)	ANKRD2 (I18M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296650	NM_001346793.2(ANKRD2):c.882G>C (p.Gln294His)	ANKRD2 (Q288H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296642	NM_001346793.2(ANKRD2):c.741T>A (p.Asn247Lys)	ANKRD2 (N247K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123964	NM_001346793.2(ANKRD2):c.866C>T (p.Pro289Leu)	ANKRD2 (P256L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123948	NM_001346793.2(ANKRD2):c.430G>T (p.Gly144Trp)	ANKRD2 (G171W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123942	NM_001346793.2(ANKRD2):c.395G>A (p.Gly132Glu)	ANKRD2 (G132E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123934	NM_020349.4(ANKRD2):c.34G>A (p.Ala12Thr)	ANKRD2 (A98T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123928	NM_001346793.2(ANKRD2):c.223C>G (p.Leu75Val)	ANKRD2 (L102V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123918	NM_001346793.2(ANKRD2):c.125A>T (p.Asp42Val)	ANKRD2 (D155V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123903	NM_001346793.2(ANKRD2):c.34C>A (p.Gln12Lys)	ANKRD2 (Q12K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123897	NM_001346793.2(ANKRD2):c.29C>T (p.Ala10Val)	ANKRD2 (A10V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123894	NM_001346793.2(ANKRD2):c.935A>G (p.Glu312Gly)	ANKRD2 (E425G +4 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 3063163	GRCh37/hg19 10q24.1-24.2(chr10:99109931-99405396)x3	ANKRD2, C10orf62 +9 more	Copy number gain	not specified	GUncertain significance
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 2640739	NM_001346793.2(ANKRD2):c.315C>G (p.Ala105=)	ANKRD2	Single nucleotide variant (synonymous variant)	not provided	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 2561447	NM_001346793.2(ANKRD2):c.890A>T (p.Gln297Leu)	ANKRD2 (Q291L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536723	NM_001346793.2(ANKRD2):c.932C>T (p.Ala311Val)	ANKRD2 (A305V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513416	NM_001346793.2(ANKRD2):c.697G>A (p.Val233Met)	ANKRD2 (V346M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478666	NM_001346793.2(ANKRD2):c.392A>T (p.Glu131Val)	ANKRD2 (E131V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369852	NM_001346793.2(ANKRD2):c.464G>A (p.Arg155Gln)	ANKRD2 (R155Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301761	NM_020349.4(ANKRD2):c.67C>T (p.Pro23Ser)	ANKRD2 (P109S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295879	NM_001346793.2(ANKRD2):c.888G>C (p.Trp296Cys)	ANKRD2 (W290C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265751	NM_001346793.2(ANKRD2):c.25G>A (p.Glu9Lys)	ANKRD2 (E9K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243536	NM_001346793.2(ANKRD2):c.604G>T (p.Val202Leu)	ANKRD2 (V202L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211870	NM_001346793.2(ANKRD2):c.100G>A (p.Asp34Asn)	ANKRD2 (D34N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527598	GRCh37/hg19 10q24.1-24.2(chr10:99070594-99445724)	ANKRD2, AVPI1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 776534	NM_001291218.2(ANKRD2):c.173_175del (p.Trp58_Pro59delinsSer)	ANKRD2	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 774685	NM_001346793.2(ANKRD2):c.356C>T (p.Pro119Leu)	ANKRD2 (P119L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 773005	NM_001346793.2(ANKRD2):c.855A>G (p.Ala285=)	ANKRD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768382	NM_001291218.2(ANKRD2):c.17C>G (p.Pro6Arg)	ANKRD2 (P6R)	Single nucleotide variant (missense variant)	not provided	GBenign
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

ClinVar

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Links from Gene

Items: 46