ZACN[gene] - ClinVar

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Items: 38

	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 2313309	NM_180990.4(ZACN):c.20T>C (p.Leu7Pro)	ZACN (L7P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595506	NM_180990.4(ZACN):c.53C>T (p.Thr18Ile)	ZACN (T18I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272728	NM_180990.4(ZACN):c.70G>A (p.Gly24Arg)	ZACN (G24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537126	NM_180990.4(ZACN):c.92C>T (p.Ala31Val)	ZACN (A31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262998	NM_180990.4(ZACN):c.106T>A (p.Ser36Thr)	ZACN (S36T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529527	NM_180990.4(ZACN):c.115A>G (p.Asn39Asp)	ZACN (N39D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2404355	NM_180990.4(ZACN):c.193C>T (p.Arg65Trp)	ZACN (R65W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252981	NM_180990.4(ZACN):c.311C>T (p.Pro104Leu)	ZACN (P104L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345109	NM_180990.4(ZACN):c.313C>T (p.Arg105Trp)	ZACN (R105W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350806	NM_180990.4(ZACN):c.314G>A (p.Arg105Gln)	ZACN (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2234354	NM_180990.4(ZACN):c.328C>G (p.Leu110Val)	ZACN (L110V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230495	NM_180990.4(ZACN):c.365T>C (p.Ile122Thr)	ZACN (I122T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487140	NM_180990.4(ZACN):c.408G>T (p.Gln136His)	ZACN (Q136H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363083	NM_180990.4(ZACN):c.496C>T (p.Arg166Trp)	ZACN (R166W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488171	NM_180990.4(ZACN):c.497G>C (p.Arg166Pro)	ZACN (R166P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383539	NM_180990.4(ZACN):c.769C>T (p.Arg257Trp)	EXOC7, ZACN (R257W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2516982	NM_180990.4(ZACN):c.820G>A (p.Val274Ile)	EXOC7, ZACN (V274I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369431	NM_180990.4(ZACN):c.982G>A (p.Gly328Ser)	EXOC7, ZACN (G328S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2361329	NM_180990.4(ZACN):c.983G>T (p.Gly328Val)	ZACN, EXOC7 (G328V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1701750	NM_180990.4(ZACN):c.1021G>A (p.Gly341Ser)	EXOC7, ZACN (G341S)	Single nucleotide variant (3 prime UTR variant +1 more)	Neurodevelopmental disorder with seizures and brain atrophy	GUncertain significance
Select item 2469711	NM_180990.4(ZACN):c.1026C>A (p.Asn342Lys)	EXOC7, ZACN (N342K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266772	NM_180990.4(ZACN):c.1204G>A (p.Glu402Lys)	ZACN, EXOC7 (E402K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2684857	GRCh37/hg19 17q25.1(chr17:74056941-74313663)x3	EXOC7, FOXJ1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
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 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
Select item 253996	GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3	SRP68, TRIM65 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 38