ClinVar for Gene (Select 261729) - ClinVar

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

Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323216	NM_001244944.2(STEAP2):c.942G>T (p.Met314Ile)	STEAP2 (M314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323215	NM_001244944.2(STEAP2):c.853G>A (p.Gly285Ser)	STEAP2 (G285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323214	NM_001244944.2(STEAP2):c.233A>G (p.His78Arg)	STEAP2 (H78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171173	NM_001244944.2(STEAP2):c.878C>T (p.Pro293Leu)	STEAP2 (P293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171172	NM_001244944.2(STEAP2):c.508A>G (p.Asn170Asp)	STEAP2 (N170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171171	NM_001244944.2(STEAP2):c.487C>T (p.Arg163Trp)	STEAP2 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171170	NM_001244944.2(STEAP2):c.16A>G (p.Met6Val)	STEAP2 (M6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171169	NM_001244944.2(STEAP2):c.1324G>A (p.Val442Ile)	STEAP2 (V442I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171168	NM_001244944.2(STEAP2):c.1187C>T (p.Ser396Phe)	STEAP2 (S396F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171167	NM_001244944.2(STEAP2):c.113G>A (p.Ser38Asn)	STEAP2 (S38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171166	NM_001244944.2(STEAP2):c.10A>G (p.Ile4Val)	STEAP2 (I4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171165	NM_001244944.2(STEAP2):c.1079A>G (p.Tyr360Cys)	STEAP2 (Y360C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054027	NM_001244944.2(STEAP2):c.219G>T (p.Val73=)	STEAP2	Single nucleotide variant (synonymous variant)	STEAP2-related disorder	GLikely benign
Select item 3050426	NM_001244944.2(STEAP2):c.*4331T>C	STEAP2 (L417P)	Single nucleotide variant (3 prime UTR variant +1 more)	STEAP2-related disorder	GLikely benign
Select item 3042658	NM_001244944.2(STEAP2):c.851A>G (p.Tyr284Cys)	STEAP2 (Y284C)	Single nucleotide variant (missense variant)	STEAP2-related disorder	GBenign
Select item 3041808	NM_001244944.2(STEAP2):c.661A>G (p.Ser221Gly)	STEAP2 (S221G)	Single nucleotide variant (missense variant)	STEAP2-related disorder	GLikely benign
Select item 2684494	GRCh37/hg19 7q21.13(chr7:88851863-90433435)x3	CDK14, CFAP69 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2597928	NM_001244944.2(STEAP2):c.1433C>T (p.Thr478Ile)	STEAP2 (T478I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556898	NM_001244944.2(STEAP2):c.157G>A (p.Gly53Ser)	STEAP2 (G53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543444	NM_001244944.2(STEAP2):c.787G>A (p.Ala263Thr)	STEAP2 (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543443	NM_001244944.2(STEAP2):c.785T>A (p.Val262Asp)	STEAP2 (V262D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543442	NM_001244944.2(STEAP2):c.784G>A (p.Val262Ile)	STEAP2 (V262I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533115	NM_001244944.2(STEAP2):c.457G>A (p.Ala153Thr)	STEAP2 (A153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483326	NM_001244944.2(STEAP2):c.161A>G (p.Tyr54Cys)	STEAP2 (Y54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476157	NM_001244944.2(STEAP2):c.118G>A (p.Asp40Asn)	STEAP2 (D40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405800	NM_001244944.2(STEAP2):c.158G>T (p.Gly53Val)	STEAP2 (G53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403284	NM_001244944.2(STEAP2):c.738C>G (p.Asp246Glu)	STEAP2 (D246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374731	NM_001244944.2(STEAP2):c.488G>A (p.Arg163Gln)	STEAP2 (R163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373859	NM_001244944.2(STEAP2):c.938C>G (p.Ala313Gly)	STEAP2 (A313G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373041	NM_001244944.2(STEAP2):c.415G>T (p.Asp139Tyr)	STEAP2 (D139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363846	NM_001244944.2(STEAP2):c.73A>G (p.Ile25Val)	STEAP2 (I25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363371	NM_001244944.2(STEAP2):c.1274G>C (p.Arg425Thr)	STEAP2 (R425T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339515	NM_001244944.2(STEAP2):c.1204G>A (p.Ala402Thr)	STEAP2 (A402T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336739	NM_001244944.2(STEAP2):c.711T>G (p.His237Gln)	STEAP2 (H237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322413	NM_001244944.2(STEAP2):c.823C>A (p.Leu275Ile)	STEAP2 (L275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286160	NM_001244944.2(STEAP2):c.259A>T (p.Asn87Tyr)	STEAP2 (N87Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225440	NM_001244944.2(STEAP2):c.26G>A (p.Ser9Asn)	STEAP2 (S9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1338847	GRCh38/hg38 7q21.13(chr7:89998146-90352986)	GTPBP10, LOC101927446 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 929825	GRCh37/hg19 7q21.13(chr7:88547866-89880949)x3	CFAP69, STEAP1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 929384	GRCh37/hg19 7q21.12-21.13(chr7:88148465-89871132)x3	STEAP1, STEAP2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 815007	GRCh37/hg19 7q21.13(chr7:88533008-90192559)x1	STEAP1, GTPBP10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688106	GRCh37/hg19 7q21.13(chr7:88343564-89895714)x3	CFAP69, STEAP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686785	GRCh37/hg19 7q21.12-21.13(chr7:88151483-89895851)x3	CFAP69, STEAP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563400	GRCh37/hg19 7q21.12-21.13(chr7:88146318-89884701)x3	ZNF804B, STEAP1 +3 more	Copy number gain	not provided	GLikely benign
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 443970	GRCh37/hg19 7q21.12-21.13(chr7:88146318-89885423)x4	CFAP69, STEAP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442891	GRCh37/hg19 7q21.12-21.13(chr7:88146318-89895850)x3	CFAP69, STEAP1 +3 more	Copy number gain	See cases	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442799	GRCh37/hg19 7q21.13(chr7:88337283-89884701)x3	CFAP69, STEAP1 +3 more	Copy number gain	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394308	GRCh37/hg19 7q21.13(chr7:88314811-89882588)x3	CFAP69, STEAP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221462	GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3	STEAP4, TEX47 +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 155134	GRCh38/hg38 7q21.13(chr7:88724612-90261496)x3	CFAP69, LOC105375387 +11 more	Copy number gain	See cases	GUncertain significance
Select item 155088	GRCh38/hg38 7q21.13(chr7:88517003-90255387)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 155067	GRCh38/hg38 7q21.13(chr7:88517003-90256109)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GUncertain significance
Select item 153765	GRCh38/hg38 7q21.13(chr7:89886335-90747262)x3	CDK14, CFAP69 +28 more	Copy number gain	See cases	GUncertain significance
Select item 151201	GRCh38/hg38 7q21.13(chr7:89467226-90255387)x3	CFAP69, LOC105375387 +9 more	Copy number gain	See cases	GUncertain significance
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 148934	GRCh38/hg38 7q21.13(chr7:88520043-90261496)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GLikely benign
Select item 148558	GRCh38/hg38 7q21.13(chr7:88520043-90253333)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 148222	GRCh38/hg38 7q21.13(chr7:88724612-90253333)x3	CFAP69, LOC105375387 +11 more	Copy number gain	See cases	GLikely benign
Select item 148157	GRCh38/hg38 7q21.13(chr7:89880753-90888838)x3	CDK14, CFAP69 +30 more	Copy number gain	See cases	GUncertain significance
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59624	GRCh38/hg38 7q21.13(chr7:88521030-90256023)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GUncertain significance
Select item 59623	GRCh38/hg38 7q21.13(chr7:88520043-90241919)x3	LOC105375387, LOC113748415 +12 more	Copy number gain	See cases	GUncertain significance

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: 73