7952[HGNC] - ClinVar

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Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +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 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 151581	GRCh38/hg38 17q25.3(chr17:80328106-80955527)x1	ENDOV, LOC101928855 +31 more	Copy number loss	See cases	GUncertain significance
Select item 2223386	NM_002522.4(NPTX1):c.1286G>A (p.Arg429His)	NPTX1 (R429H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201787	NM_002522.4(NPTX1):c.1243G>A (p.Glu415Lys)	NPTX1 (E415K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383915	NM_002522.4(NPTX1):c.1222G>A (p.Ala408Thr)	NPTX1 (A408T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1184956	NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)	NPTX1 (G389R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2566869	NM_002522.4(NPTX1):c.1151G>A (p.Arg384His)	NPTX1 (R384H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806390	NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)	NPTX1 (Q370R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GPathogenic
Select item 2360935	NM_002522.4(NPTX1):c.1054G>A (p.Val352Met)	NPTX1 (V352M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777255	NM_002522.4(NPTX1):c.1041C>T (p.Ile347=)	NPTX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1806388	NM_002522.4(NPTX1):c.980A>G (p.Glu327Gly)	NPTX1 (E327G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GPathogenic
Select item 2377213	NM_002522.4(NPTX1):c.847G>C (p.Val283Leu)	NPTX1 (V283L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533724	NM_002522.4(NPTX1):c.686A>G (p.Gln229Arg)	NPTX1 (Q229R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588311	NM_002522.4(NPTX1):c.678C>A (p.Asp226Glu)	NPTX1 (D226E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340620	NM_002522.4(NPTX1):c.668G>A (p.Arg223His)	NPTX1 (R223H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410326	NM_002522.4(NPTX1):c.608C>A (p.Thr203Asn)	NPTX1 (T203N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616623	NM_002522.4(NPTX1):c.607A>T (p.Thr203Ser)	NPTX1 (T203S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2224563	NM_002522.4(NPTX1):c.569G>T (p.Gly190Val)	NPTX1 (G190V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692519	NM_002522.4(NPTX1):c.539G>T (p.Arg180Leu)	NPTX1 (R180L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GLikely pathogenic
Select item 1806389	NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu)	NPTX1	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GPathogenic
Select item 2529583	NM_002522.4(NPTX1):c.425C>G (p.Thr142Ser)	NPTX1 (T142S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067920	NM_002522.4(NPTX1):c.396A>C (p.Gln132His)	NPTX1 (Q132H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GUncertain significance
Select item 3201789	NM_002522.4(NPTX1):c.392G>C (p.Ser131Thr)	NPTX1 (S131T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713396	NM_002522.4(NPTX1):c.309G>A (p.Arg103=)	NPTX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2534345	NM_002522.4(NPTX1):c.289C>G (p.Pro97Ala)	NPTX1 (P97A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2397424	NM_002522.4(NPTX1):c.182T>A (p.Leu61His)	NPTX1 (L61H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569417	NM_002522.4(NPTX1):c.170G>A (p.Ser57Asn)	NPTX1 (S57N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2364926	NM_002522.4(NPTX1):c.73T>A (p.Phe25Ile)	NPTX1 (F25I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201792	NM_002522.4(NPTX1):c.61G>C (p.Gly21Arg)	NPTX1 (G21R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569419	NM_002522.4(NPTX1):c.59C>G (p.Ala20Gly)	NPTX1 (A20G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569418	NM_002522.4(NPTX1):c.58G>A (p.Ala20Thr)	NPTX1 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201790	NM_002522.4(NPTX1):c.49C>T (p.Leu17Phe)	NPTX1 (L17F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286238	NM_002522.4(NPTX1):c.22C>A (p.Arg8Ser)	NPTX1 (R8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569416	NM_002522.4(NPTX1):c.14G>C (p.Arg5Pro)	NPTX1 (R5P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235394	NM_002522.4(NPTX1):c.11G>C (p.Gly4Ala)	NPTX1 (G4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684859	GRCh37/hg19 17q25.3(chr17:78228491-78573872)x3	ENDOV, NPTX1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809041	GRCh37/hg19 17q25.3(chr17:78230693-79048694)x4	BAIAP2, CHMP6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, CARD14 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1340097	GRCh37/hg19 17q25.3(chr17:78281233-78524153)x3	ENDOV, NPTX1 +2 more	Copy number gain	not provided	GUncertain significance
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 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 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 442849	GRCh37/hg19 17q25.3(chr17:78005894-78686171)x3	CARD14, CCDC40 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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 395515	GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3	CARD14, CBX2 +13 more	Copy number gain	See cases	GUncertain significance

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Items: 55