ClinVar for Gene (Select 1791) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2620450	NM_004088.4(DNTT):c.1450T>C (p.Phe484Leu)	DNTT (F484L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617915	NM_004088.4(DNTT):c.1196A>G (p.His399Arg)	DNTT (H399R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610799	NM_004088.4(DNTT):c.35G>A (p.Arg12Gln)	DNTT (R12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2556150	NM_004088.4(DNTT):c.1408A>T (p.Ile470Phe)	DNTT (I469F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555327	NM_004088.4(DNTT):c.1421A>C (p.His474Pro)	DNTT (H473P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519079	NM_004088.4(DNTT):c.1466G>A (p.Ser489Asn)	DNTT (S488N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405388	NM_004088.4(DNTT):c.327A>T (p.Glu109Asp)	DNTT (E109D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405359	NM_004088.4(DNTT):c.1358G>A (p.Arg453Gln)	DNTT (R453Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360927	NM_004088.4(DNTT):c.1378C>T (p.Arg460Trp)	DNTT (R460W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336307	NM_004088.4(DNTT):c.410C>T (p.Pro137Leu)	DNTT (P137L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333988	NM_004088.4(DNTT):c.631A>T (p.Thr211Ser)	DNTT (T211S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327276	NM_004088.4(DNTT):c.419C>G (p.Pro140Arg)	DNTT (P140R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323284	NM_004088.4(DNTT):c.1232G>A (p.Arg411His)	DNTT (R411H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2233785	NM_004088.4(DNTT):c.884A>G (p.Tyr295Cys)	DNTT (Y295C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220746	NM_004088.4(DNTT):c.447G>T (p.Lys149Asn)	DNTT (K149N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215066	NM_004088.4(DNTT):c.1526C>T (p.Ala509Val)	DNTT (A509V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204007	NM_004088.4(DNTT):c.1004G>A (p.Arg335Gln)	DNTT (R335Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 791541	NM_004088.4(DNTT):c.838G>C (p.Asp280His)	DNTT (D280H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780050	NM_004088.4(DNTT):c.732A>G (p.Glu244=)	DNTT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776532	NM_004088.4(DNTT):c.269C>T (p.Ala90Val)	DNTT (A90V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776531	NM_004088.4(DNTT):c.203+9G>A	DNTT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773003	NM_004088.4(DNTT):c.203+7C>G	DNTT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 726421	NM_004088.4(DNTT):c.387A>G (p.Arg129=)	DNTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709704	NM_004088.4(DNTT):c.495C>T (p.Asn165=)	DNTT	Single nucleotide variant (synonymous 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)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 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, ANXA8L1 +723 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	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 44