ClinVar for Gene (Select 6847) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2639011	NM_003176.4(SYCP1):c.2578C>T (p.Pro860Ser)	SYCP1 (P835S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2608859	NM_003176.4(SYCP1):c.1300G>A (p.Glu434Lys)	SYCP1 (E434K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607663	NM_003176.4(SYCP1):c.1433T>C (p.Val478Ala)	SYCP1 (V478A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606493	NM_003176.4(SYCP1):c.1291G>A (p.Val431Ile)	SYCP1 (V431I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560270	NM_003176.4(SYCP1):c.2707A>G (p.Met903Val)	SYCP1 (M878V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557458	NM_003176.4(SYCP1):c.2429T>C (p.Leu810Ser)	SYCP1 (L785S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553458	NM_003176.4(SYCP1):c.116A>T (p.Asn39Ile)	SYCP1 (N39I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548662	NM_003176.4(SYCP1):c.419T>C (p.Ile140Thr)	SYCP1 (I140T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531606	NM_003176.4(SYCP1):c.2486A>G (p.His829Arg)	SYCP1 (H829R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518301	NM_003176.4(SYCP1):c.1609A>G (p.Met537Val)	SYCP1 (M537V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488435	NM_003176.4(SYCP1):c.2482G>A (p.Asp828Asn)	SYCP1 (D803N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481237	NM_003176.4(SYCP1):c.1054A>G (p.Ile352Val)	SYCP1 (I352V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471550	NM_003176.4(SYCP1):c.1624A>G (p.Lys542Glu)	SYCP1 (K542E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460037	NM_003176.4(SYCP1):c.2425A>C (p.Lys809Gln)	SYCP1 (K784Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456017	NM_003176.4(SYCP1):c.1121C>T (p.Ser374Leu)	SYCP1 (S374L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	SIKE1, DENND2C +23 more	Duplication	RASopathy	GUncertain significance
Select item 2411102	NM_003176.4(SYCP1):c.2341G>A (p.Ala781Thr)	SYCP1 (A781T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410705	NM_003176.4(SYCP1):c.610C>T (p.Arg204Trp)	SYCP1 (R204W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390736	NM_003176.4(SYCP1):c.101T>A (p.Phe34Tyr)	SYCP1 (F34Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381858	NM_003176.4(SYCP1):c.2901A>C (p.Lys967Asn)	SYCP1 (K942N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361210	NM_003176.4(SYCP1):c.2500G>A (p.Asp834Asn)	SYCP1 (D809N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356076	NM_003176.4(SYCP1):c.1537A>G (p.Asn513Asp)	SYCP1 (N513D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330194	NM_003176.4(SYCP1):c.785A>G (p.Asn262Ser)	SYCP1 (N262S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284560	NM_003176.4(SYCP1):c.754C>T (p.His252Tyr)	SYCP1 (H252Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277500	NM_003176.4(SYCP1):c.2371A>G (p.Lys791Glu)	SYCP1 (K791E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276456	NM_003176.4(SYCP1):c.839A>C (p.Asn280Thr)	SYCP1 (N280T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267287	NM_003176.4(SYCP1):c.2828T>G (p.Leu943Arg)	SYCP1 (L943R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266212	NM_003176.4(SYCP1):c.2834T>A (p.Phe945Tyr)	SYCP1 (F920Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262524	NM_003176.4(SYCP1):c.2759C>G (p.Pro920Arg)	SYCP1 (P895R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246255	NM_003176.4(SYCP1):c.146C>G (p.Pro49Arg)	SYCP1 (P49R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229329	NM_003176.4(SYCP1):c.434G>A (p.Arg145Gln)	SYCP1 (R145Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220738	NM_003176.4(SYCP1):c.277G>T (p.Asp93Tyr)	SYCP1 (D93Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 787754	NM_003176.4(SYCP1):c.260A>G (p.Tyr87Cys)	SYCP1 (Y87C)	Single nucleotide variant (missense variant +1 more)	Mycotic Aneurysm, Intracranial +1 more	GConflicting classifications of pathogenicity
Select item 787212	NM_003176.4(SYCP1):c.1524C>T (p.Asn508=)	SYCP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773413	NM_003176.4(SYCP1):c.315G>A (p.Val105=)	SYCP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 767689	NM_003176.4(SYCP1):c.1530-10T>A	SYCP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 746336	NM_003176.4(SYCP1):c.536C>T (p.Thr179Ile)	SYCP1 (T179I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 150274	GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1	AMPD1, BCAS2 +19 more	Copy number loss	See cases	GUncertain significance
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48