STXBP6[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 2389576	NM_001394410.1(STXBP6):c.545G>A (p.Arg182Gln)	STXBP6 (R175Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555708	NM_001394410.1(STXBP6):c.493G>A (p.Ala165Thr)	STXBP6 (A85T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533072	NM_001394410.1(STXBP6):c.380A>T (p.His127Leu)	STXBP6 (H127L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531549	NM_001394410.1(STXBP6):c.347C>T (p.Ala116Val)	STXBP6 (A36V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260262	NM_001394410.1(STXBP6):c.290C>T (p.Ser97Leu)	STXBP6 (S17L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171839	NM_001394410.1(STXBP6):c.209G>C (p.Gly70Ala)	STXBP6 (G70A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303087	NM_001394410.1(STXBP6):c.179C>T (p.Ala60Val)	STXBP6 (A60V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980478	GRCh37/hg19 14q12(chr14:25344055-26769914)x3	STXBP6	Copy number gain	not provided	GUncertain significance
Select item 980477	GRCh37/hg19 14q12(chr14:25172628-30285023)x1	NOVA1, STXBP6 +2 more	Copy number loss	not provided	GPathogenic
Select item 980476	GRCh37/hg19 14q12(chr14:25496337-26608460)x3	STXBP6	Copy number gain	not provided	GLikely benign
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 688882	GRCh37/hg19 14q12(chr14:25355269-26856647)x3	STXBP6	Copy number gain	not provided	GUncertain significance
Select item 687257	GRCh37/hg19 14q12(chr14:25292455-25431391)x3	STXBP6	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441871	GRCh37/hg19 14q12(chr14:24917041-25611546)x3	CMA1, CTSG +3 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 35