ClinVar for MedGen (Select 10571) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687625	NM_003002.4(SDHD):c.242C>G (p.Pro81Arg)	SDHD (P42R +1 more)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1687624	NM_003000.3(SDHB):c.206G>T (p.Gly69Val)	SDHB (G69V)	Single nucleotide variant (missense variant)	Paraganglioma +3 more	GPathogenic/Likely pathogenic
Select item 1684500	NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser)	DDX46 (N939S +1 more)	Single nucleotide variant (missense variant +1 more)	Autism +5 more	GUncertain significance
Select item 428929	NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)	SDHB (N248K)	Single nucleotide variant (missense variant)	Paraganglioma +4 more	GLikely pathogenic
Select item 239647	NM_004168.4(SDHA):c.1432_1432+1del	SDHA	Deletion (splice donor variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity

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