STX8[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 2329039	NM_004853.3(STX8):c.688G>C (p.Val230Leu)	STX8 (V230L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494789	NM_004853.3(STX8):c.659T>C (p.Ile220Thr)	STX8 (I220T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477546	NM_004853.3(STX8):c.596A>G (p.Asn199Ser)	STX8 (N199S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152874	GRCh38/hg38 17p13.1(chr17:9395750-9464129)x1	LOC130060286, STX8	Copy number loss	See cases	GUncertain significance
Select item 2590830	NM_004853.3(STX8):c.461G>A (p.Gly154Asp)	STX8 (G154D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323479	NM_004853.3(STX8):c.447A>C (p.Gln149His)	STX8 (Q149H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161626	NM_004853.3(STX8):c.434A>C (p.Gln145Pro)	STX8 (Q145P)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2537273	NM_004853.3(STX8):c.428A>T (p.Gln143Leu)	STX8 (Q143L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292463	NM_004853.3(STX8):c.395C>T (p.Thr132Ile)	STX8 (T132I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459802	NM_004853.3(STX8):c.373C>T (p.Leu125Phe)	STX8 (L125F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283262	NM_004853.3(STX8):c.121A>G (p.Thr41Ala)	STX8 (T41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672209	NM_004853.3(STX8):c.117+1G>A	STX8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2593930	NM_004853.3(STX8):c.109G>A (p.Ala37Thr)	STX8 (A37T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2493888	NM_004853.3(STX8):c.100G>C (p.Gly34Arg)	STX8 (G34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171780	NM_004853.3(STX8):c.89A>G (p.Tyr30Cys)	STX8 (Y30C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358242	NM_004853.3(STX8):c.80G>A (p.Arg27Gln)	STX8 (R27Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171778	NM_004853.3(STX8):c.53A>G (p.Gln18Arg)	STX8 (Q18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389088	NM_004853.3(STX8):c.7C>T (p.Pro3Ser)	STX8 (P3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786305	NM_004853.3(STX8):c.6A>G (p.Ala2=)	LOC130060287, STX8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 1808503	GRCh37/hg19 17p13.1(chr17:9405640-9487304)x1	CFAP52, STX8	Copy number loss	not provided	GUncertain significance
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1340147	GRCh37/hg19 17p13.1(chr17:9109407-9395912)x3	NTN1, STX8	Copy number gain	not provided	GLikely benign
Select item 980125	GRCh37/hg19 17p13.1(chr17:9158081-9611315)x3	USP43, CFAP52 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687671	GRCh37/hg19 17p13.1(chr17:9114823-9401836)x3	NTN1, STX8	Copy number gain	not provided	GUncertain significance
Select item 564398	GRCh37/hg19 17p13.1(chr17:9301785-9353526)x1	STX8	Copy number loss	not provided	GLikely benign
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 35