"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12781	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB (R242H)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GPathogenic/Likely pathogenic
Select item 486418	NM_003000.3(SDHB):c.553G>A (p.Glu185Lys)	SDHB (E185K)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GUncertain significance
Select item 459156	NM_003000.3(SDHB):c.552C>T (p.Tyr184=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 12778	NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	SDHB (R90*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +7 more	GPathogenic
Select item 184148	NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)	SDHB (G53E)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GBenign/Likely benign
Select item 142764	NM_003000.3(SDHB):c.72+1G>T	LOC129929542, SDHB	Single nucleotide variant (splice donor variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GPathogenic/Likely pathogenic
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	Pheochromocytoma +8 more	GConflicting classifications of pathogenicity
Select item 184192	NM_003000.3(SDHB):c.24C>T (p.Ser8=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1807880	GRCh37/hg19 1p36.13(chr1:17366386-17491556)x3	PADI2, SDHB	Copy number gain	not provided	GUncertain significance
Select item 1341268	GRCh37/hg19 1p36.13(chr1:17284531-17770100)x1	ATP13A2, CROCC +8 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1340301	GRCh37/hg19 1p36.13(chr1:17366386-17501904)x3	PADI2, SDHB	Copy number gain	not provided	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 565080	GRCh37/hg19 1p36.13(chr1:17291706-18585289)x3	ACTL8, ARHGEF10L +11 more	Copy number gain	not provided	GUncertain significance