C3279992[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 60

	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 371867	NM_004168.4(SDHA):c.-5C>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 371794	NM_004168.4(SDHA):c.1A>T (p.Met1Leu)	SDHA (M1L)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +3 more	GPathogenic/Likely pathogenic
Select item 412398	NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	SDHA (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 224952	NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)	SDHA (G6D)	Single nucleotide variant (missense variant)	Leigh syndrome +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 239687	NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)	SDHA (R31Q)	Single nucleotide variant (missense variant)	Paragangliomas 5 +5 more	GConflicting classifications of pathogenicity
Select item 239636	NM_004168.4(SDHA):c.109G>A (p.Val37Ile)	SDHA (V37I)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GConflicting classifications of pathogenicity
Select item 224947	NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)	SDHA (A45T)	Single nucleotide variant (missense variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 224951	NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)	SDHA (K46E)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 141767	NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)	SDHA (D49G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 548807	NM_004168.4(SDHA):c.210dup (p.Gly71fs)	SDHA (G71fs)	Duplication (frameshift variant)	Paragangliomas 5	GLikely pathogenic
Select item 239666	NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)	SDHA (T96I)	Single nucleotide variant (missense variant)	B-lymphoblastic leukemia/lymphoma with hypodiploidy +5 more	GUncertain significance
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 239671	NM_004168.4(SDHA):c.456+6G>T	SDHA	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 385656	NM_004168.4(SDHA):c.456+9C>T	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +2 more	GLikely benign
Select item 412358	NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)	SDHA (F160L +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GConflicting classifications of pathogenicity
Select item 239673	NM_004168.4(SDHA):c.513T>C (p.Arg171=)	SDHA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 239678	NM_004168.4(SDHA):c.622-8T>C	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +2 more	GConflicting classifications of pathogenicity
Select item 221076	NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)	SDHA (I235T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +6 more	GUncertain significance
Select item 232828	NM_004168.4(SDHA):c.739A>G (p.Ile247Val)	SDHA (I247V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +5 more	GConflicting classifications of pathogenicity
Select item 487408	NM_004168.4(SDHA):c.757_758del (p.Val253fs)	SDHA (V205fs +1 more)	Deletion (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic/Likely pathogenic
Select item 371832	NM_004168.4(SDHA):c.770+12A>G	SDHA	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 371841	NM_004168.4(SDHA):c.770+19_770+23del	SDHA	Deletion (intron variant)	Paragangliomas 5	GUncertain significance
Select item 141401	NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)	SDHA (T273I +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +4 more	GConflicting classifications of pathogenicity
Select item 412356	NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)	SDHA (G276S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 222817	NM_004168.4(SDHA):c.830C>T (p.Thr277Met)	SDHA (T277M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +7 more	GConflicting classifications of pathogenicity
Select item 548821	NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)	SDHA (T281A +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +6 more	GUncertain significance
Select item 390626	NM_004168.4(SDHA):c.895+13G>A	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +5 more	GConflicting classifications of pathogenicity
Select item 412387	NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)	SDHA (C305Y +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GUncertain significance
Select item 472419	NM_004168.4(SDHA):c.955A>G (p.Ile319Val)	SDHA (I319V +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 539687	NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)	SDHA (E324K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 371798	NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)	SDHA (V333T +1 more)	Indel (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 548793	NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)	SDHA (D336Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 371975	NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)	SDHA (R352Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 371829	NM_004168.4(SDHA):c.1064+5G>A	SDHA	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 239638	NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)	SDHA (P399L +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 239642	NM_004168.4(SDHA):c.1273G>A (p.Val425Met)	SDHA (V425M +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +5 more	GUncertain significance
Select item 212142	NM_004168.4(SDHA):c.1274T>G (p.Val425Gly)	SDHA (V425G +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 548890	NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)	SDHA (A449V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +2 more	GUncertain significance
Select item 371819	NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)	SDHA (A454T +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 371838	NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)	SDHA (E472K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +4 more	GConflicting classifications of pathogenicity
Select item 239646	NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)	SDHA (C475R +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GUncertain significance
Select item 239649	NM_004168.4(SDHA):c.1432+7G>C	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +2 more	GLikely benign
Select item 371842	NM_004168.4(SDHA):c.1432+16A>G	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 548892	NM_004168.4(SDHA):c.1432+20G>C	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +2 more	GBenign/Likely benign
Select item 371805	NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)	SDHA (R512* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GPathogenic/Likely pathogenic
Select item 212143	NM_004168.4(SDHA):c.1591G>A (p.Val531Met)	SDHA (V531M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 412397	NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)	SDHA (T551M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 239655	NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)	SDHA (R554Q +1 more)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 371834	NM_004168.4(SDHA):c.1664-24del	SDHA	Deletion (intron variant)	Paragangliomas 5	GLikely benign
Select item 412376	NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)	SDHA (A575V +1 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +5 more	GUncertain significance
Select item 160358	NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)	SDHA (R585W +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG +6 more	GConflicting classifications of pathogenicity
Select item 239658	NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)	SDHA (R585Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 252908	NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)	SDHA (E640G +2 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +6 more	GConflicting classifications of pathogenicity
Select item 412359	NM_004168.4(SDHA):c.1930G>A (p.Val644Met)	SDHA (V644M +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 548773	NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)	SDHA (E651Q +2 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 239660	NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)	SDHA (A660G +2 more)	Single nucleotide variant (missense variant)	Leigh syndrome +5 more	GConflicting classifications of pathogenicity
Select item 548891	NM_004168.4(SDHA):c.*13T>C	SDHA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 371816	NM_001370100.5(ZMYND11):c.117-4238T>A	ZMYND11	Single nucleotide variant (intron variant)	Paragangliomas 5	GUncertain significance

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Items: 60