"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371942	NM_004168.4(SDHA):c.-7A>C	SDHA	Single nucleotide variant (5 prime UTR variant)	Paragangliomas 5 +6 more	GConflicting classifications of pathogenicity
Select item 835516	NM_004168.4(SDHA):c.64-2A>G	SDHA	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 142601	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA (R31*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1GG +9 more	GPathogenic/Likely pathogenic
Select item 224957	NM_004168.4(SDHA):c.113A>T (p.Asp38Val)	SDHA (D38V)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +7 more	GBenign/Likely benign
Select item 388610	NM_004168.4(SDHA):c.150+1G>A	SDHA	Single nucleotide variant (splice donor variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 371857	NM_004168.4(SDHA):c.313-19G>T	SDHA	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 259246	NM_004168.4(SDHA):c.456+20G>C	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +4 more	GBenign
Select item 252909	NM_004168.4(SDHA):c.549C>T (p.Gly183=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 130281	NM_004168.4(SDHA):c.619A>C (p.Arg207=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +6 more	GBenign
Select item 239678	NM_004168.4(SDHA):c.622-8T>C	SDHA	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130282	NM_004168.4(SDHA):c.684T>C (p.Asn228=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +6 more	GBenign
Select item 353203	NM_004168.4(SDHA):c.723C>T (p.Asp241=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 259248	NM_004168.4(SDHA):c.771-11A>G	SDHA	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +8 more	GBenign
Select item 224953	NM_004168.4(SDHA):c.822C>T (p.Gly274=)	SDHA	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 130283	NM_004168.4(SDHA):c.891T>C (p.Pro297=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +8 more	GBenign
Select item 141242	NM_004168.4(SDHA):c.969C>T (p.Gly323=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 224954	NM_004168.4(SDHA):c.1305G>T (p.Leu435=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +6 more	GConflicting classifications of pathogenicity
Select item 224948	NM_004168.4(SDHA):c.1368G>A (p.Ser456=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 224956	NM_004168.4(SDHA):c.1413C>T (p.Ile471=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +7 more	GConflicting classifications of pathogenicity
Select item 380580	NM_004168.4(SDHA):c.1551+16C>T	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +4 more	GBenign/Likely benign
Select item 252905	NM_004168.4(SDHA):c.1623G>A (p.Lys541=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 130275	NM_004168.4(SDHA):c.1664-8G>A	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +8 more	GBenign/Likely benign
Select item 160358	NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)	SDHA (R585W +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration with ataxia and late-onset optic atrophy +6 more	GConflicting classifications of pathogenicity
Select item 259244	NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)	SDHA (R600Q +2 more)	Single nucleotide variant (missense variant)	SDHA-related condition +6 more	GConflicting classifications of pathogenicity
Select item 224949	NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)	SDHA (Y629F +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 224955	NM_004168.4(SDHA):c.1911C>T (p.Val637=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +7 more	GBenign/Likely benign
Select item 130278	NM_004168.4(SDHA):c.1932G>A (p.Val644=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign

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Items: 27