"Sema4, Sema4"[submitter] AND "SDHD"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1384692	NM_003002.4(SDHD):c.26C>T (p.Ala9Val)	LOC126861339, SDHD (A9V)	Single nucleotide variant (missense variant +1 more)	Carney-Stratakis syndrome +4 more	GUncertain significance
Select item 6895	NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	LOC126861339, SDHD (G12S)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +8 more	GConflicting classifications of pathogenicity
Select item 506417	NM_003002.4(SDHD):c.53-52_53-49del	SDHD	Deletion (intron variant)	SDHD-related condition +6 more	GBenign/Likely benign
Select item 302481	NM_003002.4(SDHD):c.53C>T (p.Ala18Val)	SDHD (A18V)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +8 more	GConflicting classifications of pathogenicity
Select item 1692742	NM_003002.4(SDHD):c.66A>G (p.Arg22=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1692743	NM_003002.4(SDHD):c.72A>G (p.Pro24=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 6909	NM_003002.4(SDHD):c.149A>G (p.His50Arg)	SDHD (H50R)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +8 more	GBenign/Likely benign
Select item 1692740	NM_003002.4(SDHD):c.202A>G (p.Ser68Gly)	SDHD (S29G +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 44650	NM_003002.4(SDHD):c.204C>T (p.Ser68=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +9 more	GBenign/Likely benign
Select item 239464	NM_003002.4(SDHD):c.242del (p.Pro81fs)	SDHD (P81fs +1 more)	Deletion (frameshift variant +2 more)	Carney-Stratakis syndrome +5 more	GPathogenic
Select item 412501	NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)	SDHD (L85F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 412506	NM_003002.4(SDHD):c.281C>G (p.Ser94Cys)	SDHD (S94C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GUncertain significance
Select item 6900	NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)	SDHD (Y114C +2 more)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +6 more	GPathogenic
Select item 465234	NM_003002.4(SDHD):c.342T>C (p.Tyr114=)	SDHD (M66T)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 486437	NM_003002.4(SDHD):c.428A>G (p.Asn143Ser)	SDHD (N143S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Carney-Stratakis syndrome +5 more	GUncertain significance
Select item 1692741	NM_003002.4(SDHD):c.445_448dup (p.Cys150fs)	SDHD (C111fs +1 more)	Duplication (3 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic/Likely pathogenic
Select item 6910	NM_003002.4(SDHD):c.463del (p.Met155fs)	SDHD (M116fs +1 more)	Deletion (3 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance