STX5[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 2326759	NM_003164.5(STX5):c.1006A>G (p.Met336Val)	STX5 (M282V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2206510	NM_003164.5(STX5):c.943G>A (p.Val315Ile)	STX5 (V315I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308709	NM_003164.5(STX5):c.862C>G (p.Gln288Glu)	STX5 (Q234E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328976	NM_003164.5(STX5):c.806G>A (p.Arg269Gln)	STX5 (R215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559207	NM_003164.5(STX5):c.772C>T (p.Leu258Phe)	STX5 (L204F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171767	NM_003164.5(STX5):c.751C>T (p.Arg251Trp)	STX5 (R197W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216510	NM_003164.5(STX5):c.730G>A (p.Ala244Thr)	STX5 (A244T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531136	NM_003164.5(STX5):c.665C>T (p.Ala222Val)	STX5 (A222V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411311	NM_003164.5(STX5):c.637C>T (p.Arg213Trp)	STX5 (R213W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241306	NM_003164.5(STX5):c.618C>G (p.Ser206Arg)	STX5 (S206R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466813	NM_003164.5(STX5):c.575C>T (p.Ser192Leu)	STX5 (S138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615612	NM_003164.5(STX5):c.491G>T (p.Ser164Ile)	STX5 (S164I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559500	NM_003164.5(STX5):c.421C>A (p.Gln141Lys)	STX5 (Q87K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338442	NM_003164.5(STX5):c.377A>G (p.Asp126Gly)	STX5 (D72G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380223	NM_003164.5(STX5):c.312C>A (p.Asp104Glu)	STX5 (D104E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480033	NM_003164.5(STX5):c.256C>T (p.Arg86Cys)	STX5 (R32C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171764	NM_003164.5(STX5):c.221G>C (p.Arg74Pro)	STX5 (R20P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486306	NM_003164.5(STX5):c.220C>T (p.Arg74Cys)	STX5 (R20C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735479	NM_003164.5(STX5):c.129C>T (p.Pro43=)	STX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2386406	NM_003164.5(STX5):c.116C>T (p.Ala39Val)	STX5 (A39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247855	NM_003164.5(STX5):c.56G>A (p.Gly19Asp)	STX5 (G19D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171765	NM_003164.5(STX5):c.39T>A (p.Asp13Glu)	STX5 (D13E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 393925	GRCh37/hg19 11q12.3(chr11:62598650-62619571)x3	SNHG1, STX5 +1 more	Copy number gain	See cases	GLikely benign

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Items: 38