ClinVar for Gene (Select 4722) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299068	NM_004551.3(NDUFS3):c.760C>G (p.Leu254Val)	NDUFS3 (L254V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188313	NM_004551.3(NDUFS3):c.719A>G (p.Glu240Gly)	NDUFS3 (E240G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188292	NM_004551.3(NDUFS3):c.49G>A (p.Ala17Thr)	NDUFS3 (A17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188274	NM_004551.3(NDUFS3):c.25C>G (p.Leu9Val)	NDUFS3 (L9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188261	NM_004551.3(NDUFS3):c.118G>A (p.Gly40Arg)	NDUFS3 (G40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3012547	NM_004551.3(NDUFS3):c.492C>T (p.Asn164=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006714	NM_004551.3(NDUFS3):c.600A>G (p.Lys200=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979007	NM_004551.3(NDUFS3):c.381+20_381+22del	NDUFS3	Deletion (intron variant)	not provided	GLikely benign
Select item 2974521	NM_004551.3(NDUFS3):c.507+11G>A	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899076	NM_004551.3(NDUFS3):c.18A>G (p.Val6=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881034	NM_004551.3(NDUFS3):c.68-9C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810417	NM_004551.3(NDUFS3):c.126C>T (p.Asp42=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806992	NM_004551.3(NDUFS3):c.732C>T (p.Val244=)	NDUFS3	Single nucleotide variant (synonymous variant)	NDUFS3-related disorder +1 more	GLikely benign
Select item 2735605	NM_004551.3(NDUFS3):c.668C>T (p.Pro223Leu)	NDUFS3 (P223L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716746	NM_004551.3(NDUFS3):c.355G>A (p.Val119Ile)	NDUFS3 (V119I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2715465	NM_004551.3(NDUFS3):c.232-11C>G	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697512	NM_004551.3(NDUFS3):c.27G>A (p.Leu9=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641768	NM_004551.3(NDUFS3):c.297C>A (p.Phe99Leu)	NDUFS3 (F99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613319	NM_004551.3(NDUFS3):c.368A>C (p.Gln123Pro)	NDUFS3 (Q123P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580063	NM_004551.3(NDUFS3):c.373C>T (p.Arg125Cys)	NDUFS3 (R125C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577557	NM_004551.3(NDUFS3):c.37G>A (p.Gly13Arg)	NDUFS3 (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2552900	NM_004551.3(NDUFS3):c.678G>C (p.Leu226Phe)	NDUFS3 (L226F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498513	NM_004551.3(NDUFS3):c.39G>T (p.Gly13=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469945	NM_004551.3(NDUFS3):c.364C>T (p.Arg122Trp)	NDUFS3 (R122W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434093	NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter)	NDUFS3 (Q75*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 8	GUncertain significance
Select item 2431418	NM_004551.3(NDUFS3):c.382-1del	NDUFS3	Deletion (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 8	GLikely pathogenic
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 2415886	NM_004551.3(NDUFS3):c.507+10C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2408828	NM_004551.3(NDUFS3):c.496T>C (p.Tyr166His)	NDUFS3 (Y166H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390313	NM_004551.3(NDUFS3):c.505G>A (p.Glu169Lys)	NDUFS3 (E169K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347086	NM_004551.3(NDUFS3):c.31T>C (p.Trp11Arg)	NDUFS3 (W11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258085	NM_004551.3(NDUFS3):c.49dup (p.Ala17fs)	NDUFS3 (A17fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2228564	NM_004551.3(NDUFS3):c.3G>C (p.Met1Ile)	NDUFS3 (M1I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2221090	NM_004551.3(NDUFS3):c.580G>A (p.Glu194Lys)	NDUFS3 (E194K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199708	NM_004551.3(NDUFS3):c.631C>T (p.Arg211Cys)	NDUFS3 (R211C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185309	NM_004551.3(NDUFS3):c.713C>T (p.Pro238Leu)	NDUFS3 (P238L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164339	NM_004551.3(NDUFS3):c.255G>C (p.Glu85Asp)	NDUFS3 (E85D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2161784	NM_004551.3(NDUFS3):c.252A>T (p.Leu84Phe)	NDUFS3 (L84F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2132080	NM_004551.3(NDUFS3):c.742C>T (p.Pro248Ser)	NDUFS3 (P248S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131553	NM_004551.3(NDUFS3):c.40A>C (p.Ile14Leu)	NDUFS3 (I14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126755	NM_004551.3(NDUFS3):c.782C>A (p.Pro261His)	NDUFS3 (P261H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123496	NM_004551.3(NDUFS3):c.627+5G>A	NDUFS3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2112488	NM_004551.3(NDUFS3):c.710G>T (p.Ser237Ile)	NDUFS3 (S237I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110114	NM_004551.3(NDUFS3):c.691del (p.Arg231fs)	NDUFS3 (R231fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2095644	NM_004551.3(NDUFS3):c.508-11C>G	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081283	NM_004551.3(NDUFS3):c.381+4A>G	NDUFS3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2071161	NM_004551.3(NDUFS3):c.640G>A (p.Asp214Asn)	NDUFS3 (D214N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060231	NM_004551.3(NDUFS3):c.294T>C (p.Thr98=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029719	NM_004551.3(NDUFS3):c.177A>C (p.Ser59=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025881	NM_004551.3(NDUFS3):c.722del (p.Ala241fs)	NDUFS3 (A241fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2024010	NM_004551.3(NDUFS3):c.621T>C (p.Tyr207=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014671	NM_004551.3(NDUFS3):c.26T>C (p.Leu9Pro)	NDUFS3 (L9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012195	NM_004551.3(NDUFS3):c.340T>G (p.Leu114Val)	NDUFS3 (L114V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980440	NM_004551.3(NDUFS3):c.22A>T (p.Arg8Trp)	NDUFS3 (R8W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976087	NM_004551.3(NDUFS3):c.769G>A (p.Gly257Arg)	NDUFS3 (G257R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971858	NM_004551.3(NDUFS3):c.782C>T (p.Pro261Leu)	NDUFS3 (P261L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964496	NM_004551.3(NDUFS3):c.23G>A (p.Arg8Lys)	NDUFS3 (R8K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958277	NM_004551.3(NDUFS3):c.166A>G (p.Lys56Glu)	NDUFS3 (K56E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943426	NM_004551.3(NDUFS3):c.231+9T>C	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941501	NM_004551.3(NDUFS3):c.229C>A (p.Gln77Lys)	NDUFS3 (Q77K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913324	NM_004551.3(NDUFS3):c.692G>A (p.Arg231His)	NDUFS3 (R231H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1912855	NM_004551.3(NDUFS3):c.721G>A (p.Ala241Thr)	NDUFS3 (A241T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901463	NM_004551.3(NDUFS3):c.81C>T (p.Pro27=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900024	NM_004551.3(NDUFS3):c.133+12C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1803666	NM_004551.3(NDUFS3):c.22A>G (p.Arg8Gly)	NDUFS3 (R8G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712102	NM_004551.3(NDUFS3):c.347C>T (p.Ala116Val)	NDUFS3 (A116V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712080	NM_004551.3(NDUFS3):c.712C>T (p.Pro238Ser)	NDUFS3 (P238S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1700108	NM_004551.3(NDUFS3):c.473_474del (p.Ser158fs)	NDUFS3 (S158fs)	Microsatellite (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1658810	NM_004551.3(NDUFS3):c.642T>C (p.Asp214=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621506	NM_004551.3(NDUFS3):c.231+9_231+12del	NDUFS3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1617881	NM_004551.3(NDUFS3):c.232-9T>C	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613248	NM_004551.3(NDUFS3):c.675G>A (p.Glu225=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610828	NM_004551.3(NDUFS3):c.68-5T>C	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1510462	NM_004551.3(NDUFS3):c.185G>T (p.Gly62Val)	NDUFS3 (G62V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1506065	NM_004551.3(NDUFS3):c.751_752dup (p.Ser251fs)	NDUFS3 (S251fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1483822	NM_004551.3(NDUFS3):c.277G>A (p.Val93Ile)	NDUFS3 (V93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476921	NM_004551.3(NDUFS3):c.766G>C (p.Ala256Pro)	NDUFS3 (A256P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476093	NM_004551.3(NDUFS3):c.754C>T (p.Leu252Phe)	NDUFS3 (L252F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435231	NM_004551.3(NDUFS3):c.746C>T (p.Pro249Leu)	NDUFS3 (P249L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432987	NC_000011.9:g.(?_47603620)_(47606033_?)del	NDUFS3	Deletion	not provided	GUncertain significance
Select item 1426714	NM_004551.3(NDUFS3):c.653G>A (p.Arg218Gln)	NDUFS3 (R218Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414431	NM_004551.3(NDUFS3):c.627+2T>C	NDUFS3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1406925	NM_004551.3(NDUFS3):c.133+3_133+6del	NDUFS3	Deletion (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 8 +1 more	GUncertain significance
Select item 1399192	NM_004551.3(NDUFS3):c.734A>G (p.Tyr245Cys)	NDUFS3 (Y245C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360407	NM_004551.3(NDUFS3):c.381+2T>C	NDUFS3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1360225	NM_004551.3(NDUFS3):c.736C>T (p.Arg246Cys)	NDUFS3 (R246C)	Single nucleotide variant (missense variant)	NDUFS3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1353893	NM_004551.3(NDUFS3):c.67+4A>C	NDUFS3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1312272	NM_004551.3(NDUFS3):c.540C>A (p.Asn180Lys)	NDUFS3 (N180K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305082	NM_004551.3(NDUFS3):c.538A>C (p.Asn180His)	NDUFS3 (N180H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272079	NC_000011.10:g.47584696del	NDUFS3	Deletion	not provided	GBenign
Select item 1258696	NM_004551.3(NDUFS3):c.381+189dup	NDUFS3	Duplication (intron variant)	not provided	GBenign
Select item 1253606	NM_004551.3(NDUFS3):c.134-100C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252880	NM_004551.3(NDUFS3):c.381+189del	NDUFS3	Deletion (intron variant)	not provided	GBenign
Select item 1239179	NM_018095.6(KBTBD4):c.19+47G>A	KBTBD4, NDUFS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1220307	NC_000011.10:g.47584604G>T	NDUFS3	Single nucleotide variant	not provided	GLikely benign
Select item 1219155	NC_000011.10:g.47584696dup	NDUFS3	Duplication	not provided	GLikely benign
Select item 1208400	NM_004551.3(NDUFS3):c.*15T>C	NDUFS3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1203490	NM_004551.3(NDUFS3):c.507+62C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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