"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 463832	NM_017841.4(SDHAF2):c.6G>A (p.Ala2=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 416796	NM_017841.4(SDHAF2):c.15A>G (p.Thr5=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GBenign/Likely benign
Select item 486409	NM_017841.4(SDHAF2):c.24G>A (p.Ser8=)	SDHAF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2682076	NM_017841.4(SDHAF2):c.36+2T>C	SDHAF2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 241217	NM_017841.4(SDHAF2):c.36+10G>A	SDHAF2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 41836	NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)	SDHAF2 (R18G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 840116	NM_017841.4(SDHAF2):c.103T>C (p.Tyr35His)	SDHAF2 (Y35H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 486407	NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)	SDHAF2 (M47V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 1404409	NM_017841.4(SDHAF2):c.152C>T (p.Pro51Leu)	SDHAF2 (P51L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 231193	NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)	SDHAF2 (R69H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2682075	NM_017841.4(SDHAF2):c.261-10T>C	SDHAF2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 411611	NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)	SDHAF2 (E111K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 486412	NM_017841.4(SDHAF2):c.360C>T (p.Tyr120=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GConflicting classifications of pathogenicity
Select item 403424	NM_017841.4(SDHAF2):c.446_447del (p.Lys149fs)	SDHAF2 (K149fs)	Deletion (frameshift variant)	not specified +3 more	GUncertain significance
Select item 411605	NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)	SDHAF2 (E159A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic