C5700310[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 772406	NM_004168.4(SDHA):c.622-7C>T	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 239641	NM_004168.4(SDHA):c.1242C>T (p.Pro414=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 39585	NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)	SDHA (T508I +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 239652	NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)	SDHA (K469E +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 190221	NM_001294332.1(SDHA):c.[313-449G>C;1405A>G]	SDHA (K469E +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1	GLikely pathogenic
Select item 802106	NM_004168.4(SDHA):c.1908+85G>A	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1	GBenign
Select item 802107	NM_004168.4(SDHA):c.1908+90A>G	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1	GBenign
Select item 130279	NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)	SDHA (V657I +2 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +6 more	GBenign