ClinVar for Gene (Select 6810) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323473	NM_004604.5(STX4):c.173A>G (p.Lys58Arg)	STX4 (K56R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3323472	NM_004604.5(STX4):c.740G>A (p.Ser247Asn)	STX4 (S247N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3171762	NM_004604.5(STX4):c.74T>C (p.Leu25Pro)	STX4 (L25P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3024141	NM_004604.5(STX4):c.718C>T (p.Arg240Trp)	STX4 (R240W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542118	NM_004604.5(STX4):c.107G>T (p.Ser36Ile)	STX4 (A27S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2382481	NM_004604.5(STX4):c.179A>G (p.Gln60Arg)	STX4 (Q58R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2359922	NM_004604.5(STX4):c.403G>A (p.Val135Met)	STX4 (V135M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226122	NM_004604.5(STX4):c.697A>C (p.Met233Leu)	STX4 (M155L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220377	NM_004604.5(STX4):c.352G>A (p.Val118Ile)	STX4 (V40I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205957	NM_004604.5(STX4):c.289A>G (p.Ile97Val)	STX4 (I19V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676769	NM_004604.5(STX4):c.232+6T>C	STX4	Single nucleotide variant (5 prime UTR variant +1 more)	Hearing loss, autosomal recessive 123 +1 more	GPathogenic/Likely pathogenic
Select item 1526506	GRCh37/hg19 16p11.2(chr16:30943854-31171177)	PRSS53, PRSS8 +12 more	Copy number loss	not specified	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687383	GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	BCKDK, BCL7C +14 more	Copy number loss	not provided	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 475337	NC_000016.10:g.(?_30992801)_(31068051_?)del	LOC130058885, LOC130058886 +4 more	Deletion	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 443355	GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	BCL7C, CFAP119 +18 more	Copy number loss	See cases	GUncertain significance
Select item 443135	GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	BCKDK, FBXL19 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 150706	GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1	HSD3B7, LOC130058885 +6 more	Copy number loss	See cases	GLikely benign
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33