C1861848[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258891	NM_003000.3(SDHB):c.765+13G>A	SDHB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 371792	NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)	SDHB (T250I)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 371795	NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)	SDHB (P237S)	Single nucleotide variant (missense variant)	Ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 371883	NM_003000.3(SDHB):c.642+17T>C	SDHB	Single nucleotide variant (intron variant)	not specified +5 more	GLikely benign
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +7 more	GConflicting classifications of pathogenicity
Select item 548757	NM_003000.3(SDHB):c.424-14_424-9dup	SDHB	Duplication (intron variant)	Gastrointestinal stromal tumor +3 more	GLikely benign
Select item 18454	NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	SDHB (V140F)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GPathogenic/Likely pathogenic
Select item 412490	NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)	SDHB (D118N)	Single nucleotide variant (missense variant)	Paragangliomas 4 +4 more	GUncertain significance
Select item 44642	NM_003000.3(SDHB):c.287-1G>C	SDHB	Single nucleotide variant (splice acceptor variant)	Paragangliomas 4 +5 more	GPathogenic/Likely pathogenic
Select item 224012	NM_003000.3(SDHB):c.287-26A>G	SDHB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 183793	NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	SDHB (R46Q)	Single nucleotide variant (missense variant)	Pheochromocytoma +7 more	GPathogenic/Likely pathogenic
Select item 371801	NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	SDHB (R38C)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +6 more	GUncertain significance
Select item 161386	NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)	SDHB (R27G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +9 more	GConflicting classifications of pathogenicity