STEAP2-AS1[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	PTTG1IP2, RUNDC3B +78 more	Copy number loss	See cases	GLikely pathogenic
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 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 59623	GRCh38/hg38 7q21.13(chr7:88520043-90241919)x3	LOC105375387, LOC113748415 +12 more	Copy number gain	See cases	GUncertain significance
Select item 59624	GRCh38/hg38 7q21.13(chr7:88521030-90256023)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GUncertain significance
Select item 144694	GRCh38/hg38 7q21.13(chr7:88563521-90066533)x3	LOC105375387, LOC126860099 +4 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160831	GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3	LOC105375387, LOC126860099 +5 more	Copy number gain	See cases	GUncertain significance
Select item 144248	GRCh38/hg38 7q21.13(chr7:88563550-90066568)x3	LOC105375387, LOC126860099 +4 more	Copy number gain	See cases	GUncertain significance
Select item 32442	GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3	LOC105375387, LOC126860099 +5 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 154532	GRCh38/hg38 7q21.13(chr7:88685497-90170632)x3	LOC105375387, LOC126860099 +5 more	Copy number gain	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 148222	GRCh38/hg38 7q21.13(chr7:88724612-90253333)x3	CFAP69, LOC105375387 +11 more	Copy number gain	See cases	GLikely benign
Select item 146828	GRCh38/hg38 7q21.13(chr7:88763658-90066533)x3	LOC105375387, LOC126860099 +4 more	Copy number gain	See cases	GLikely benign
Select item 151201	GRCh38/hg38 7q21.13(chr7:89467226-90255387)x3	CFAP69, LOC105375387 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154382	GRCh38/hg38 7q21.13(chr7:89490493-90170632)x3	LOC105375387, LOC126860099 +3 more	Copy number gain	See cases	GUncertain significance
Select item 148157	GRCh38/hg38 7q21.13(chr7:89880753-90888838)x3	CDK14, CFAP69 +30 more	Copy number gain	See cases	GUncertain significance
Select item 153765	GRCh38/hg38 7q21.13(chr7:89886335-90747262)x3	PTTG1IP2, STEAP1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 144932	GRCh38/hg38 7q21.13(chr7:89941939-90066509)x1	STEAP2-AS1	Copy number loss	See cases	GBenign
Select item 1338847	GRCh38/hg38 7q21.13(chr7:89998146-90352986)	CFAP69, FAM237B +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 2366206	NM_012449.3(STEAP1):c.76G>A (p.Asp26Asn)	STEAP2-AS1, STEAP1 (D26N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595526	NM_012449.3(STEAP1):c.107G>A (p.Ser36Asn)	STEAP1, STEAP2-AS1 (S36N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546222	NM_012449.3(STEAP1):c.166G>C (p.Asp56His)	STEAP1, STEAP2-AS1 (D56H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330768	NM_012449.3(STEAP1):c.187C>G (p.His63Asp)	STEAP1, STEAP2-AS1 (H63D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306390	NM_012449.3(STEAP1):c.319T>C (p.Tyr107His)	STEAP2-AS1, STEAP1 (Y107H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613710	NM_012449.3(STEAP1):c.410C>A (p.Ala137Glu)	STEAP1, STEAP2-AS1 (A137E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357761	NM_012449.3(STEAP1):c.413T>C (p.Ile138Thr)	STEAP2-AS1, STEAP1 (I138T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618663	NM_012449.3(STEAP1):c.508T>C (p.Phe170Leu)	STEAP1, STEAP2-AS1 (F170L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206173	NM_012449.3(STEAP1):c.517G>A (p.Val173Ile)	STEAP1, STEAP2-AS1 (V173I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361532	NM_012449.3(STEAP1):c.541T>A (p.Ser181Thr)	STEAP1, STEAP2-AS1 (S181T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455978	NM_012449.3(STEAP1):c.557G>A (p.Arg186Gln)	STEAP1, STEAP2-AS1 (R186Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474171	NM_012449.3(STEAP1):c.772G>A (p.Gly258Arg)	STEAP1, STEAP2-AS1 (G258R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770940	NM_012449.3(STEAP1):c.804C>T (p.His268=)	STEAP1, STEAP2-AS1	Single nucleotide variant (synonymous variant)	STEAP1-related condition +1 more	GBenign
Select item 2464115	NM_012449.3(STEAP1):c.817G>A (p.Ala273Thr)	STEAP2-AS1, STEAP1 (A273T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471451	NM_012449.3(STEAP1):c.823A>T (p.Asn275Tyr)	STEAP1, STEAP2-AS1 (N275Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252504	NM_012449.3(STEAP1):c.839T>C (p.Ile280Thr)	STEAP1, STEAP2-AS1 (I280T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471507	NM_012449.3(STEAP1):c.908T>C (p.Ile303Thr)	STEAP1, STEAP2-AS1 (I303T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602582	NM_012449.3(STEAP1):c.965A>G (p.His322Arg)	STEAP1, STEAP2-AS1 (H322R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 41