ClinVar for Gene (Select 9482) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
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 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 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 2283262	NM_004853.3(STX8):c.121A>G (p.Thr41Ala)	STX8 (T41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 786305	NM_004853.3(STX8):c.6A>G (p.Ala2=)	LOC130060287, STX8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
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 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 152874	GRCh38/hg38 17p13.1(chr17:9395750-9464129)x1	LOC130060286, STX8	Copy number loss	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 34