STYXL1[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 58896	GRCh38/hg38 7q11.23(chr7:75769688-76066509)x1	CCL24, CCL26 +25 more	Copy number loss	See cases	GUncertain significance
Select item 3042540	NM_001317785.2(STYXL1):c.931C>G (p.Pro311Ala)	STYXL1 (P173A +2 more)	Single nucleotide variant (missense variant +2 more)	STYXL1-related disorder	GBenign
Select item 2475212	NM_001317785.2(STYXL1):c.914T>C (p.Ile305Thr)	STYXL1 (I167T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494553	NM_001317785.2(STYXL1):c.888G>C (p.Trp296Cys)	STYXL1 (W158C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 634503	NM_001317785.2(STYXL1):c.875dup (p.Leu293fs)	STYXL1 (L155fs +2 more)	Duplication (frameshift variant +2 more)	not specified	GUncertain significance
Select item 3171851	NM_001317785.2(STYXL1):c.868G>A (p.Val290Met)	STYXL1 (V152M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525532	NM_001317785.2(STYXL1):c.766G>A (p.Ala256Thr)	STYXL1 (A160T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278213	NM_001317785.2(STYXL1):c.764C>A (p.Ala255Asp)	STYXL1 (A117D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601936	NM_001317785.2(STYXL1):c.754C>T (p.Arg252Cys)	STYXL1 (P140L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543605	NM_001317785.2(STYXL1):c.752G>C (p.Ser251Thr)	STYXL1 (S155T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598294	NM_001317785.2(STYXL1):c.677G>A (p.Arg226His)	STYXL1 (R88H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328491	NM_001317785.2(STYXL1):c.659A>G (p.Gln220Arg)	STYXL1 (Q124R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323500	NM_001317785.2(STYXL1):c.512G>T (p.Gly171Val)	STYXL1 (G33V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060119	NM_001317785.2(STYXL1):c.489C>T (p.Ile163=)	STYXL1	Single nucleotide variant (synonymous variant +1 more)	STYXL1-related disorder	GBenign
Select item 2253663	NM_001317785.2(STYXL1):c.451C>G (p.Gln151Glu)	STYXL1 (Q151E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206341	NM_001317785.2(STYXL1):c.410C>T (p.Thr137Met)	STYXL1 (T137M)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 983402	NM_001317785.2(STYXL1):c.328A>G (p.Ile110Val)	STYXL1 (I110V)	Single nucleotide variant (missense variant +2 more)	Seizure +1 more	GUncertain significance
Select item 3171850	NM_001317785.2(STYXL1):c.316C>T (p.Pro106Ser)	STYXL1 (P106S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531423	NM_001317785.2(STYXL1):c.272A>T (p.Asp91Val)	STYXL1 (D91V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595304	NM_001317785.2(STYXL1):c.271G>A (p.Asp91Asn)	STYXL1 (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3171849	NM_001317785.2(STYXL1):c.223G>A (p.Val75Met)	STYXL1 (V75M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2292293	NM_001317785.2(STYXL1):c.181C>T (p.Leu61Phe)	STYXL1 (L61F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2338251	NM_001317785.2(STYXL1):c.125A>G (p.Tyr42Cys)	STYXL1 (Y42C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3041363	NM_001317785.2(STYXL1):c.89A>G (p.Tyr30Cys)	STYXL1 (Y30C)	Single nucleotide variant (missense variant +2 more)	STYXL1-related disorder	GLikely benign
Select item 1281578	NC_000007.14:g.76047898C>T	MDH2, STYXL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2685249	GRCh37/hg19 7q11.23(chr7:75646830-75696931)x1	STYXL1, MDH2	Copy number loss	not provided	GUncertain significance
Select item 2425825	NC_000007.13:g.(?_75583311)_(75988125_?)dup	HSPB1, MDH2 +5 more	Duplication	not provided	GUncertain significance
Select item 2425446	NC_000007.13:g.(?_75583311)_(75695728_?)dup	MDH2, POR +2 more	Duplication	not provided	GUncertain significance
Select item 1808137	GRCh37/hg19 7q11.23(chr7:75146858-75995207)x3	SRRM3, YWHAG +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807990	GRCh37/hg19 7q11.23(chr7:75091880-75951903)x3	CCL24, CCL26 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807835	GRCh37/hg19 7q11.23(chr7:75085014-76007380)x1	CCL24, CCL26 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1411434	NC_000007.13:g.(?_75583311)_(75988125_?)del	HSPB1, MDH2 +5 more	Deletion	not provided	GUncertain significance
Select item 1340884	GRCh37/hg19 7q11.23(chr7:75591417-75729363)x1	MDH2, POR +2 more	Copy number loss	not provided	GUncertain significance
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 688947	GRCh37/hg19 7q11.23(chr7:75233243-76007283)x3	CCL24, CCL26 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688612	GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3	CCL24, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 687818	GRCh37/hg19 7q11.23(chr7:75091878-76117614)x1	CCL24, CCL26 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 563386	GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1	POR, YWHAG +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 563385	GRCh37/hg19 7q11.23(chr7:75085013-75995207)x3	SRRM3, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 563383	GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3	STYXL1, CCL24 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 443046	GRCh37/hg19 7q11.23(chr7:75155154-75729363)x1	CCL24, CCL26 +6 more	Copy number loss	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441923	GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1	ABHD11, ABHD11-AS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253341	GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1	GTF2IRD1, CLIP2 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 67