CRTAC1[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 2270202	NM_018058.7(CRTAC1):c.1967G>C (p.Ser656Thr)	CRTAC1, GOLGA7B (S656T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592817	NM_001010917.3(GOLGA7B):c.411C>T (p.Tyr137=)	CRTAC1, GOLGA7B (V643I)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363095	NM_001010917.3(GOLGA7B):c.456C>T (p.Ser152=)	CRTAC1, GOLGA7B (A628T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2458937	NM_001010917.3(GOLGA7B):c.474C>T (p.Ser158=)	CRTAC1, GOLGA7B (A622T)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2384647	NM_018058.7(CRTAC1):c.1828G>A (p.Gly610Ser)	GOLGA7B, CRTAC1 (G610S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545289	NM_018058.7(CRTAC1):c.1750T>C (p.Tyr584His)	CRTAC1 (Y584H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462898	NM_018058.7(CRTAC1):c.1595G>A (p.Arg532Gln)	CRTAC1 (R532Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389208	NM_018058.7(CRTAC1):c.1576C>A (p.Leu526Met)	CRTAC1 (L526M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271537	NM_018058.7(CRTAC1):c.1536G>A (p.Met512Ile)	CRTAC1 (M512I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484632	NM_018058.7(CRTAC1):c.1517C>T (p.Thr506Met)	CRTAC1 (T506M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604902	NM_018058.7(CRTAC1):c.1489A>G (p.Lys497Glu)	CRTAC1 (K497E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569053	NM_018058.7(CRTAC1):c.1306C>T (p.Arg436Trp)	CRTAC1 (R436W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375845	NM_018058.7(CRTAC1):c.1300G>A (p.Val434Ile)	CRTAC1 (V434I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234080	NM_018058.7(CRTAC1):c.1239C>G (p.Asp413Glu)	CRTAC1 (D413E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383829	NM_018058.7(CRTAC1):c.1236C>G (p.Phe412Leu)	CRTAC1 (F412L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262505	NM_018058.7(CRTAC1):c.1207C>T (p.Arg403Trp)	CRTAC1 (R403W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233522	NM_018058.7(CRTAC1):c.1123C>T (p.Arg375Cys)	CRTAC1 (R375C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612483	NM_018058.7(CRTAC1):c.1088T>C (p.Phe363Ser)	CRTAC1 (F363S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210976	NM_018058.7(CRTAC1):c.878G>A (p.Arg293Gln)	CRTAC1 (R293Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412554	NM_018058.7(CRTAC1):c.824C>T (p.Thr275Ile)	CRTAC1 (T275I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354174	NM_018058.7(CRTAC1):c.811C>T (p.Arg271Trp)	CRTAC1 (R271W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311096	NM_018058.7(CRTAC1):c.742A>C (p.Ile248Leu)	CRTAC1 (I248L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559357	NM_018058.7(CRTAC1):c.607G>A (p.Val203Met)	CRTAC1 (V203M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404466	NM_018058.7(CRTAC1):c.568C>T (p.Arg190Cys)	CRTAC1 (R190C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310685	NM_018058.7(CRTAC1):c.486C>A (p.Ser162Arg)	CRTAC1 (S162R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343938	NM_018058.7(CRTAC1):c.466C>T (p.Arg156Trp)	CRTAC1 (R156W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509451	NM_018058.7(CRTAC1):c.458G>A (p.Arg153His)	CRTAC1 (R153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211159	NM_018058.7(CRTAC1):c.376G>A (p.Gly126Ser)	CRTAC1 (G126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543827	NM_018058.7(CRTAC1):c.328C>T (p.Arg110Trp)	CRTAC1 (R110W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244574	NM_018058.7(CRTAC1):c.322C>T (p.Arg108Trp)	CRTAC1 (R108W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556232	NM_018058.7(CRTAC1):c.139T>C (p.Tyr47His)	CRTAC1 (Y47H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235359	NM_018058.7(CRTAC1):c.88C>T (p.Arg30Trp)	CRTAC1 (R30W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331903	NM_018058.7(CRTAC1):c.22G>A (p.Gly8Ser)	CRTAC1 (G8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2684616	GRCh37/hg19 10q24.2(chr10:99719637-99935411)x3	CRTAC1, R3HCC1L	Copy number gain	not provided	GUncertain significance
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 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 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	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)	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

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Items: 51