ClinVar for Gene (Select 51076) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270344	NM_015960.3(CUTC):c.447C>G (p.Asp149Glu)	CUTC (D149E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079034	NM_015960.3(CUTC):c.37G>C (p.Ala13Pro)	CUTC (A13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079033	NM_015960.3(CUTC):c.370C>T (p.His124Tyr)	CUTC (H124Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079032	NM_015960.3(CUTC):c.155G>A (p.Cys52Tyr)	CUTC (C52Y)	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 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 2568716	NM_015960.3(CUTC):c.637C>T (p.Leu213Phe)	CUTC (L213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512396	NM_015960.3(CUTC):c.554T>C (p.Ile185Thr)	CUTC (I185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481176	NM_015960.3(CUTC):c.586A>G (p.Ile196Val)	CUTC (I196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474529	NM_015960.3(CUTC):c.587T>C (p.Ile196Thr)	CUTC (I196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463504	NM_015960.3(CUTC):c.326A>G (p.Tyr109Cys)	CUTC (Y109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2390424	NM_015960.3(CUTC):c.295A>G (p.Met99Val)	CUTC (M99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336105	NM_015960.3(CUTC):c.667T>G (p.Cys223Gly)	CUTC (C223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324010	NM_015960.3(CUTC):c.813C>G (p.Ile271Met)	CUTC (I271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297619	NM_015960.3(CUTC):c.692C>T (p.Ser231Leu)	CUTC (S231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288208	NM_015960.3(CUTC):c.605G>A (p.Gly202Asp)	CUTC (G202D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265933	NM_015960.3(CUTC):c.745T>C (p.Ser249Pro)	CUTC (S249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1460184	NC_000010.10:g.(?_100177321)_(101611388_?)del	ABCC2, CNNM1 +8 more	Deletion	not provided	GPathogenic
Select item 1202683	NC_000010.11:g.99732920G>A	COX15, CUTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202122	NC_000010.11:g.99733005dup	COX15, CUTC	Duplication (intron variant)	not provided	GLikely benign
Select item 879699	NM_004376.6(COX15):c.-590G>A	COX15, CUTC	Single nucleotide variant (intron variant)	Leigh syndrome	GUncertain significance
Select item 879698	NM_004376.6(COX15):c.-586C>T	COX15, CUTC	Single nucleotide variant (intron variant)	Leigh syndrome	GUncertain significance
Select item 879340	NM_004376.6(COX15):c.-265T>G	COX15, CUTC	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 879339	NM_004376.6(COX15):c.-250G>C	COX15, CUTC	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome	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 298435	NM_004376.6(COX15):c.-602C>A	COX15, CUTC	Single nucleotide variant (intron variant)	Leigh syndrome	GUncertain significance
Select item 298434	NM_004376.6(COX15):c.-597A>C	COX15, CUTC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 298433	NM_004376.6(COX15):c.-472T>C	COX15, CUTC	Single nucleotide variant (intron variant)	Leigh syndrome	GUncertain significance
Select item 298432	NM_004376.6(COX15):c.-435C>T	COX15, CUTC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 298431	NM_004376.6(COX15):c.-406C>G	COX15, CUTC	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 298430	NM_004376.6(COX15):c.-398C>A	COX15, CUTC	Single nucleotide variant (intron variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 298429	NM_004376.6(COX15):c.-338C>T	COX15, CUTC	Single nucleotide variant (synonymous variant)	Leigh syndrome	GUncertain significance
Select item 298428	NM_004376.6(COX15):c.-307C>G	COX15, CUTC (R3T)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 298427	NM_004376.6(COX15):c.-232C>T	COX15, CUTC	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	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 57908	GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3	ABCC2, COX15 +14 more	Copy number gain	See cases	GUncertain significance
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
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: 49