ClinVar for Gene (Select 6814) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381182	NM_007269.4(STXBP3):c.1682T>C (p.Ile561Thr)	STXBP3 (I561T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378407	NM_007269.4(STXBP3):c.1029+1_1029+5del	STXBP3	Deletion (splice donor variant)	STXBP3-related disorders	GLikely pathogenic
Select item 3323483	NM_007269.4(STXBP3):c.1621T>C (p.Tyr541His)	STXBP3 (Y541H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323482	NM_007269.4(STXBP3):c.1493G>T (p.Cys498Phe)	STXBP3 (C498F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323481	NM_007269.4(STXBP3):c.577G>A (p.Gly193Arg)	STXBP3 (G193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323480	NM_007269.4(STXBP3):c.1018C>A (p.Gln340Lys)	STXBP3 (Q340K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252048	NM_007269.4(STXBP3):c.442T>C (p.Tyr148His)	STXBP3 (Y148H)	Single nucleotide variant (missense variant)	Immune dysregulation, autoimmunity, and autoinflammation	GUncertain significance
Select item 3252047	NM_007269.4(STXBP3):c.206G>A (p.Arg69His)	STXBP3 (R69H)	Single nucleotide variant (missense variant)	Immune dysregulation, autoimmunity, and autoinflammation	GUncertain significance
Select item 3171795	NM_007269.4(STXBP3):c.608A>G (p.Asn203Ser)	STXBP3 (N203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171794	NM_007269.4(STXBP3):c.443A>T (p.Tyr148Phe)	STXBP3 (Y148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171793	NM_007269.4(STXBP3):c.305A>G (p.Lys102Arg)	STXBP3 (K102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171792	NM_007269.4(STXBP3):c.1580A>G (p.Asn527Ser)	STXBP3 (N527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171791	NM_007269.4(STXBP3):c.1420T>G (p.Trp474Gly)	STXBP3 (W474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171789	NM_007269.4(STXBP3):c.1013G>A (p.Arg338Gln)	STXBP3 (R338Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171788	NM_007269.4(STXBP3):c.1009T>G (p.Phe337Val)	STXBP3 (F337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068187	NM_007269.4(STXBP3):c.622G>A (p.Ala208Thr)	STXBP3 (A208T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3063099	GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	AKNAD1, CELSR2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 2726977	NM_007269.4(STXBP3):c.1709A>G (p.Lys570Arg)	STXBP3 (K570R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685814	GRCh37/hg19 1p13.3(chr1:109069332-109366802)x3	AKNAD1, EEIG2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2619066	NM_007269.4(STXBP3):c.1406T>G (p.Phe469Cys)	STXBP3 (F469C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591708	NM_007269.4(STXBP3):c.913C>T (p.Pro305Ser)	STXBP3 (P305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588911	NM_007269.4(STXBP3):c.1579A>C (p.Asn527His)	STXBP3 (N527H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554253	NM_007269.4(STXBP3):c.821A>G (p.Asp274Gly)	STXBP3 (D274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551955	NM_007269.4(STXBP3):c.698C>T (p.Ser233Leu)	STXBP3 (S233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546799	NM_007269.4(STXBP3):c.540G>T (p.Gln180His)	STXBP3 (Q180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486963	NM_007269.4(STXBP3):c.1156T>A (p.Ser386Thr)	STXBP3 (S386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476485	NM_007269.4(STXBP3):c.1075A>C (p.Lys359Gln)	STXBP3 (K359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431650	NM_007269.4(STXBP3):c.1029+1G>A	STXBP3	Single nucleotide variant (splice donor variant)	See cases	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423587	NC_000001.10:g.(?_108679275)_(109493059_?)del	AKNAD1, CLCC1 +9 more	Deletion	not provided	GUncertain significance
Select item 2384731	NM_007269.4(STXBP3):c.428A>G (p.His143Arg)	STXBP3 (H143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383536	NM_007269.4(STXBP3):c.388A>G (p.Ile130Val)	STXBP3 (I130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371606	NM_007269.4(STXBP3):c.572A>G (p.Asn191Ser)	STXBP3 (N191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268443	NM_007269.4(STXBP3):c.1306A>G (p.Ser436Gly)	STXBP3 (S436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258256	NM_007269.4(STXBP3):c.1070A>C (p.Lys357Thr)	STXBP3 (K357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879089	NM_007269.4(STXBP3):c.1029+2T>G	STXBP3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1808322	GRCh37/hg19 1p13.3(chr1:109345620-109404928)x1	AKNAD1, STXBP3	Copy number loss	not provided	GUncertain significance
Select item 1808154	GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1301694	NM_007269.4(STXBP3):c.535G>A (p.Asp179Asn)	STXBP3 (D179N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 979271	GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3	AKNAD1, EEIG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 443506	GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3	AKNAD1, CELSR2 +12 more	Copy number gain	See cases	GUncertain significance
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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146897	GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3	AKNAD1, CFAP276 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 57