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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368837	NM_003001.5(SDHC):c.-38G>A	MPZ, SDHC	Single nucleotide variant	Carney-Stratakis syndrome +11 more	GBenign
Select item 368838	NM_003001.5(SDHC):c.-32T>C	SDHC	Single nucleotide variant	not specified +3 more	GBenign
Select item 696707	NM_003001.5(SDHC):c.9G>A (p.Ala3=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GLikely benign
Select item 44647	NM_003001.3(SDHC):c.20+11_20+12dup	MPZ, SDHC	Duplication (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +9 more	GBenign
Select item 41776	NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)	SDHC (R15*)	Single nucleotide variant (nonsense +3 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 810854	NM_003001.5(SDHC):c.77+32A>T	SDHC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 440260	NM_003001.5(SDHC):c.77+36T>A	SDHC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1425921	NM_003001.5(SDHC):c.78-19C>A	SDHC	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 239447	NM_003001.5(SDHC):c.120G>A (p.Arg40=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 135194	NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)	SDHC (R50C +2 more)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal stromal tumor +4 more	GConflicting classifications of pathogenicity
Select item 165182	NM_003001.5(SDHC):c.354T>C (p.Phe118=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 183753	NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)	SDHC (R133* +7 more)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 3 +5 more	GPathogenic
Select item 513930	NM_003001.5(SDHC):c.405+13G>A	SDHC	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +5 more	GBenign/Likely benign
Select item 414250	NM_003001.5(SDHC):c.406-8G>T	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +4 more	GConflicting classifications of pathogenicity
Select item 995676	NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)	SDHC (P58L +10 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity