AANAT[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 788908	NM_001088.3(AANAT):c.8C>T (p.Thr3Met)	AANAT (T48M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 777222	NM_001088.3(AANAT):c.86G>A (p.Arg29His)	AANAT (R29H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2210332	NM_001088.3(AANAT):c.92C>T (p.Thr31Ile)	AANAT (T76I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306408	NM_001088.3(AANAT):c.154G>C (p.Glu52Gln)	AANAT (E52Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291418	NM_001088.3(AANAT):c.167T>C (p.Phe56Ser)	AANAT (F56S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594016	NM_001088.3(AANAT):c.212G>A (p.Arg71Gln)	AANAT (R116Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336668	NM_001088.3(AANAT):c.314T>A (p.Met105Lys)	AANAT (M150K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790430	NM_001088.3(AANAT):c.366T>C (p.His122=)	AANAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2387000	NM_001088.3(AANAT):c.383G>A (p.Arg128His)	AANAT (R173H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648316	NM_001088.3(AANAT):c.384C>T (p.Arg128=)	AANAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 8630	NM_001088.3(AANAT):c.385G>A (p.Ala129Thr)	AANAT (A129T +1 more)	Single nucleotide variant (missense variant +1 more)	Delayed sleep phase syndrome, susceptibility to	GUncertain significance
Select item 2400665	NM_001088.3(AANAT):c.391C>T (p.Arg131Trp)	AANAT (R131W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411738	NM_001088.3(AANAT):c.392G>A (p.Arg131Gln)	AANAT (R176Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389582	NM_001088.3(AANAT):c.425G>A (p.Arg142His)	AANAT (R187H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216304	NM_001088.3(AANAT):c.466G>C (p.Ala156Pro)	AANAT (A201P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 714416	NM_001088.3(AANAT):c.468C>T (p.Ala156=)	AANAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2508938	NM_001088.3(AANAT):c.481G>A (p.Glu161Lys)	AANAT (E206K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291454	NM_001088.3(AANAT):c.484G>A (p.Asp162Asn)	AANAT (D162N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525658	NM_001088.3(AANAT):c.514A>T (p.Ser172Cys)	AANAT (S217C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788909	NM_001088.3(AANAT):c.543C>A (p.Ile181=)	AANAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2224177	NM_001088.3(AANAT):c.556C>T (p.Leu186Phe)	AANAT (L186F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467443	NM_001088.3(AANAT):c.559A>G (p.Thr187Ala)	AANAT (T187A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, ALYREF +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687411	GRCh37/hg19 17q25.1(chr17:74401337-74574103)x3	AANAT, CYGB +4 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 36