"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 34

	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)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 142601	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA (R31*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +9 more	GPathogenic/Likely pathogenic
Select item 224957	NM_004168.4(SDHA):c.113A>T (p.Asp38Val)	SDHA (D38V)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 2678631	NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)	SDHA	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 130280	NM_004168.4(SDHA):c.309A>G (p.Ala103=)	SDHA	Single nucleotide variant (synonymous variant)	Leigh syndrome +6 more	GBenign
Select item 371857	NM_004168.4(SDHA):c.313-19G>T	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 259246	NM_004168.4(SDHA):c.456+20G>C	SDHA	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 810998	NM_004168.4(SDHA):c.456+32G>A	SDHA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 252909	NM_004168.4(SDHA):c.549C>T (p.Gly183=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 480771	NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)	SDHA (Q185* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1GG +4 more	GPathogenic
Select item 130281	NM_004168.4(SDHA):c.619A>C (p.Arg207=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 772406	NM_004168.4(SDHA):c.622-7C>T	SDHA	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 130282	NM_004168.4(SDHA):c.684T>C (p.Asn228=)	SDHA	Single nucleotide variant (synonymous variant)	Leigh syndrome +6 more	GBenign
Select item 353203	NM_004168.4(SDHA):c.723C>T (p.Asp241=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 259248	NM_004168.4(SDHA):c.771-11A>G	SDHA	Single nucleotide variant (intron variant)	Leigh syndrome +8 more	GBenign
Select item 224953	NM_004168.4(SDHA):c.822C>T (p.Gly274=)	SDHA	Single nucleotide variant (synonymous variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 130283	NM_004168.4(SDHA):c.891T>C (p.Pro297=)	SDHA	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1GG +8 more	GBenign
Select item 811625	NM_004168.4(SDHA):c.895+28T>C	SDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 810999	NM_004168.4(SDHA):c.896-32G>A	SDHA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 259249	NM_004168.4(SDHA):c.896-20A>G	SDHA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 141242	NM_004168.4(SDHA):c.969C>T (p.Gly323=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 130273	NM_004168.4(SDHA):c.1038C>G (p.Ser346=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GBenign
Select item 130274	NM_004168.4(SDHA):c.1170C>T (p.Phe390=)	SDHA	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 224954	NM_004168.4(SDHA):c.1305G>T (p.Leu435=)	SDHA	Single nucleotide variant (synonymous variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 811626	NM_004168.4(SDHA):c.1432+39C>T	SDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811627	NM_004168.4(SDHA):c.1664-34C>T	SDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130275	NM_004168.4(SDHA):c.1664-8G>A	SDHA	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 130276	NM_004168.4(SDHA):c.1680G>A (p.Thr560=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +6 more	GBenign/Likely benign
Select item 130277	NM_004168.4(SDHA):c.1752A>G (p.Ala584=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +6 more	GBenign
Select item 141824	NM_004168.4(SDHA):c.1776T>C (p.His592=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Paragangliomas 5 +6 more	GBenign/Likely benign
Select item 259245	NM_004168.4(SDHA):c.1908+15C>T	SDHA	Single nucleotide variant (intron 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)	not provided +6 more	GBenign/Likely benign
Select item 130278	NM_004168.4(SDHA):c.1932G>A (p.Val644=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 130279	NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)	SDHA (V657I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign

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Items: 34