"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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	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 259243	NM_004168.4(SDHA):c.-4A>G	SDHA	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GBenign/Likely benign
Select item 486359	NM_004168.4(SDHA):c.-2A>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GConflicting classifications of pathogenicity
Select item 353200	NM_004168.4(SDHA):c.-1C>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
Select item 412386	NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)	SDHA (S2L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GConflicting classifications of pathogenicity
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 239665	NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)	SDHA (S8W)	Single nucleotide variant (missense variant)	Paragangliomas 5 +4 more	GUncertain significance
Select item 239679	NM_004168.4(SDHA):c.63+8C>T	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 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 472313	NM_004168.4(SDHA):c.123G>A (p.Lys41=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +3 more	GLikely benign
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 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 353201	NM_004168.4(SDHA):c.163T>C (p.Tyr55His)	SDHA (Y55H)	Single nucleotide variant (missense variant)	Leigh syndrome +6 more	GBenign/Likely benign
Select item 209127	NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)	SDHA (R75*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 820963	NM_004168.4(SDHA):c.224G>A (p.Arg75Gln)	SDHA (R75Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1069906	NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)	SDHA	Insertion (frameshift variant)	Paragangliomas 5 +3 more	GPathogenic/Likely pathogenic
Select item 539690	NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)	SDHA (R97T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 472290	NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)	SDHA	Deletion (frameshift variant +1 more)	SDHA-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 480780	NM_004168.4(SDHA):c.391G>A (p.Asp131Asn)	SDHA (D131N)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG +5 more	GUncertain significance
Select item 239668	NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)	SDHA (A148T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 239670	NM_004168.4(SDHA):c.453C>T (p.Val151=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Paragangliomas 5 +4 more	GLikely benign
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 1632707	NM_004168.4(SDHA):c.456+8G>A	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +2 more	GConflicting classifications of pathogenicity
Select item 472391	NM_004168.4(SDHA):c.456+10G>A	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +2 more	GBenign/Likely benign
Select item 239674	NM_004168.4(SDHA):c.534C>T (p.Leu178=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 221062	NM_004168.4(SDHA):c.550G>A (p.Gly184Arg)	SDHA (G184R +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GBenign/Likely benign
Select item 450839	NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)	SDHA (R188Q +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +4 more	GConflicting classifications of pathogenicity
Select item 1130278	NM_004168.4(SDHA):c.588T>C (p.Thr196=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GLikely benign
Select item 417242	NM_004168.4(SDHA):c.597G>A (p.Ser199=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 252910	NM_004168.4(SDHA):c.600A>G (p.Leu200=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 141876	NM_004168.4(SDHA):c.667del (p.Asp223fs)	SDHA (D175fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1GG +4 more	GPathogenic/Likely pathogenic
Select item 239680	NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)	SDHA (R232C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
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 412333	NM_004168.4(SDHA):c.707C>T (p.Ala236Val)	SDHA (A236V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 353203	NM_004168.4(SDHA):c.723C>T (p.Asp241=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 239682	NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)	SDHA (G242R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1758145	NM_004168.4(SDHA):c.729C>G (p.Ser243=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
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 417228	NM_004168.4(SDHA):c.801G>A (p.Thr267=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GLikely benign
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 472405	NM_004168.4(SDHA):c.823G>A (p.Asp275Asn)	SDHA (D275N +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 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 933470	NM_004168.4(SDHA):c.835A>T (p.Met279Leu)	SDHA (M231L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 578770	NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)	SDHA (Y301C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 252911	NM_004168.4(SDHA):c.918C>G (p.Leu306=)	SDHA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 412364	NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)	SDHA (I319L +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
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 252904	NM_004168.4(SDHA):c.1002G>A (p.Ala334=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 239635	NM_004168.4(SDHA):c.1064+4C>T	SDHA	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 750046	NM_004168.4(SDHA):c.1126C>T (p.Leu376=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 412392	NM_004168.4(SDHA):c.1176C>T (p.Gly392=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GLikely benign
Select item 818500	NM_004168.4(SDHA):c.1177G>A (p.Val393Met)	SDHA (V345M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +7 more	GConflicting classifications of pathogenicity
Select item 472312	NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)	SDHA (G412S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 239641	NM_004168.4(SDHA):c.1242C>T (p.Pro414=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 239643	NM_004168.4(SDHA):c.1299C>T (p.Pro433=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 472319	NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser)	SDHA (G434S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
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 580330	NM_004168.4(SDHA):c.1335G>A (p.Ser445=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 486368	NM_004168.4(SDHA):c.1350C>T (p.Asn450=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +3 more	GConflicting classifications of pathogenicity
Select item 387152	NM_004168.4(SDHA):c.1356C>T (p.Leu452=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 224948	NM_004168.4(SDHA):c.1368G>A (p.Ser456=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 472326	NM_004168.4(SDHA):c.1378C>T (p.Leu460=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 472329	NM_004168.4(SDHA):c.1410C>T (p.Ser470=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +3 more	GBenign/Likely benign
Select item 224956	NM_004168.4(SDHA):c.1413C>T (p.Ile471=)	SDHA	Single nucleotide variant (synonymous variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 574308	NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)	SDHA (P477L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +4 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 539647	NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg)	SDHA (K498R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +4 more	GUncertain significance
Select item 2682077	NM_004168.4(SDHA):c.1497G>C (p.Leu499Phe)	SDHA (L451F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 570934	NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)	SDHA (I506M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 412374	NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser)	SDHA (T508S +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GUncertain significance
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 417252	NM_004168.4(SDHA):c.1527G>A (p.Ser509=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GConflicting classifications of pathogenicity
Select item 239651	NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)	SDHA (R512Q +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 387333	NM_004168.4(SDHA):c.1569T>C (p.Ala523=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Paragangliomas 5 +4 more	GBenign/Likely benign
Select item 949040	NM_004168.4(SDHA):c.1591G>T (p.Val531Leu)	SDHA (V531L +1 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +3 more	GUncertain significance
Select item 939327	NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe)	SDHA (L484F +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 749174	NM_004168.4(SDHA):c.1596G>A (p.Leu532=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 252905	NM_004168.4(SDHA):c.1623G>A (p.Lys541=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2153130	NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)	SDHA (K499Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130275	NM_004168.4(SDHA):c.1664-8G>A	SDHA	Single nucleotide variant (intron variant)	Leigh syndrome +7 more	GBenign/Likely benign
Select item 1809513	NM_004168.4(SDHA):c.1719G>A (p.Leu573=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 417229	NM_004168.4(SDHA):c.1725G>A (p.Ala575=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GConflicting classifications of pathogenicity
Select item 2682078	NM_004168.4(SDHA):c.1729C>T (p.Gln577Ter)	SDHA (Q529* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 472356	NM_004168.4(SDHA):c.1773G>A (p.Ala591=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Paragangliomas 5 +3 more	GLikely benign
Select item 141824	NM_004168.4(SDHA):c.1776T>C (p.His592=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GBenign/Likely benign
Select item 472358	NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)	SDHA (D596G +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 229686	NM_004168.4(SDHA):c.1794+3G>C	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 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)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 539697	NM_004168.4(SDHA):c.1812C>T (p.Tyr604=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1809573	NM_004168.4(SDHA):c.1816T>C (p.Tyr606His)	SDHA (Y525H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809574	NM_004168.4(SDHA):c.1859A>T (p.Glu620Val)	SDHA (E539V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 472368	NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)	SDHA (V632F +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1622746	NM_004168.4(SDHA):c.1896T>C (p.Val632=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1782453	NM_004168.4(SDHA):c.1909-3A>G	SDHA	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 224955	NM_004168.4(SDHA):c.1911C>T (p.Val637=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GBenign/Likely benign
Select item 565609	NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)	SDHA (I645T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 931329	NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)	SDHA (L568fs +2 more)	Deletion (frameshift variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance

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