8802[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 333

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 337147	NM_003849.4(SUCLG1):c.*218A>G	SUCLG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 337148	NM_003849.4(SUCLG1):c.*207A>G	SUCLG1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 337149	NM_003849.4(SUCLG1):c.*163T>C	SUCLG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +2 more	GBenign
Select item 898838	NM_003849.4(SUCLG1):c.*126G>A	SUCLG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 337150	NM_003849.4(SUCLG1):c.*55G>C	SUCLG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 9 +2 more	GLikely benign
Select item 337151	NM_003849.4(SUCLG1):c.*38C>T	SUCLG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GUncertain significance
Select item 337152	NM_003849.4(SUCLG1):c.*13del	SUCLG1	Deletion (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 337153	NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr)	SUCLG1 (R343T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 1385845	NM_003849.4(SUCLG1):c.1026G>C (p.Lys342Asn)	SUCLG1 (K342N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1953458	NM_003849.4(SUCLG1):c.1015-6C>T	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2806675	NM_003849.4(SUCLG1):c.1015-23CT[6]	SUCLG1	Microsatellite (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2715670	NM_003849.4(SUCLG1):c.1015-14T>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1626246	NM_003849.4(SUCLG1):c.1015-18T>A	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1275280	NM_003849.4(SUCLG1):c.1015-208C>T	SUCLG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2063439	NM_003849.4(SUCLG1):c.1014+6C>A	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 203977	NM_003849.4(SUCLG1):c.1010A>G (p.Tyr337Cys)	SUCLG1 (Y337C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2725862	NM_003849.4(SUCLG1):c.1005G>A (p.Thr335=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2198014	NM_003849.4(SUCLG1):c.1004C>T (p.Thr335Met)	SUCLG1 (T335M)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1562037	NM_003849.4(SUCLG1):c.990A>G (p.Ala330=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1012243	NM_003849.4(SUCLG1):c.987dup (p.Ala330fs)	SUCLG1 (A330fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 998016	NM_003849.4(SUCLG1):c.[460C>T;987dup]	SUCLG1 (A330fs +1 more)	Duplication (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 9	GPathogenic
Select item 1314172	NM_003849.4(SUCLG1):c.973G>A (p.Val325Ile)	SUCLG1 (V325I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1128113	NM_003849.4(SUCLG1):c.969T>C (p.Val323=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 337154	NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn)	SUCLG1 (S320N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +2 more	GUncertain significance
Select item 203976	NM_003849.4(SUCLG1):c.952C>T (p.Leu318Phe)	SUCLG1 (L318F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013782	NM_003849.4(SUCLG1):c.949G>C (p.Ala317Pro)	SUCLG1 (A317P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1662242	NM_003849.4(SUCLG1):c.936A>G (p.Lys312=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2619419	NM_003849.4(SUCLG1):c.935A>G (p.Lys312Arg)	SUCLG1 (K312R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2721390	NM_003849.4(SUCLG1):c.926G>C (p.Gly309Ala)	SUCLG1 (G309A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 3171925	NM_003849.4(SUCLG1):c.920G>T (p.Gly307Val)	SUCLG1 (G307V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1087440	NM_003849.4(SUCLG1):c.915T>C (p.Ala305=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GLikely benign
Select item 203967	NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)	SUCLG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1662237	NM_003849.4(SUCLG1):c.888A>G (p.Arg296=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 3008663	NM_003849.4(SUCLG1):c.871G>T (p.Ala291Ser)	SUCLG1 (A291S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2104395	NM_003849.4(SUCLG1):c.861T>G (p.Ala287=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 203975	NM_003849.4(SUCLG1):c.851C>T (p.Ser284Phe)	SUCLG1 (S284F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2213965	NM_003849.4(SUCLG1):c.844G>A (p.Val282Ile)	SUCLG1 (V282I)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GUncertain significance
Select item 2143156	NM_003849.4(SUCLG1):c.837C>G (p.Ser279=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 3005619	NM_003849.4(SUCLG1):c.835del (p.Ser279fs)	SUCLG1 (S279fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 9	GPathogenic
Select item 440312	NM_003849.4(SUCLG1):c.827G>T (p.Gly276Val)	SUCLG1 (G276V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +2 more	GUncertain significance
Select item 2130397	NM_003849.4(SUCLG1):c.826-1G>A	SUCLG1	Single nucleotide variant (splice acceptor variant)	Mitochondrial DNA depletion syndrome 9	GLikely pathogenic
Select item 516711	NM_003849.4(SUCLG1):c.826-8del	SUCLG1	Deletion (intron variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GLikely benign
Select item 418510	NM_003849.4(SUCLG1):c.826-13_826-10del	SUCLG1	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 2723737	NM_003849.4(SUCLG1):c.826-15T>C	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1276423	NM_003849.4(SUCLG1):c.826-137G>A	SUCLG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378694	NM_003849.4(SUCLG1):c.825+18A>G	SUCLG1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1087281	NM_003849.4(SUCLG1):c.825+14T>C	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2133053	NM_003849.4(SUCLG1):c.825+6T>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 632364	NM_003849.4(SUCLG1):c.825+1G>A	SUCLG1	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 9	GConflicting classifications of pathogenicity
Select item 1525657	NM_003849.4(SUCLG1):c.820A>G (p.Asn274Asp)	SUCLG1 (N274D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 791861	NM_003849.4(SUCLG1):c.819T>C (p.His273=)	SUCLG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325153	NM_003849.4(SUCLG1):c.814C>T (p.Gln272Ter)	SUCLG1 (Q272*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 9	GPathogenic
Select item 1389020	NM_003849.4(SUCLG1):c.803A>G (p.Glu268Gly)	SUCLG1 (E268G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GUncertain significance
Select item 2734415	NM_003849.4(SUCLG1):c.801A>G (p.Ala267=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2434026	NM_003849.4(SUCLG1):c.790G>T (p.Glu264Ter)	SUCLG1 (E264*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 9	GLikely pathogenic
Select item 1042506	NM_003849.4(SUCLG1):c.788A>G (p.Glu263Gly)	SUCLG1 (E263G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 203974	NM_003849.4(SUCLG1):c.776G>A (p.Gly259Asp)	SUCLG1 (G259D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2720798	NM_003849.4(SUCLG1):c.760T>C (p.Leu254=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2144274	NM_003849.4(SUCLG1):c.757A>G (p.Ile253Val)	SUCLG1 (I253V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1416882	NM_003849.4(SUCLG1):c.752G>A (p.Gly251Asp)	SUCLG1 (G251D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 373348	NM_003849.4(SUCLG1):c.745A>G (p.Thr249Ala)	SUCLG1 (T249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1519168	NM_003849.4(SUCLG1):c.736G>A (p.Asp246Asn)	SUCLG1 (D246N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1558530	NM_003849.4(SUCLG1):c.735C>T (p.Asn245=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1185061	NM_003849.4(SUCLG1):c.724del (p.Ile242fs)	SUCLG1 (I242fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 9	GPathogenic
Select item 579004	NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys)	SUCLG1 (E241K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GConflicting classifications of pathogenicity
Select item 2038479	NM_003849.4(SUCLG1):c.720C>T (p.Leu240=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1802144	NM_003849.4(SUCLG1):c.719T>G (p.Leu240Arg)	SUCLG1 (L240R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GConflicting classifications of pathogenicity
Select item 2651087	NM_003849.4(SUCLG1):c.710T>C (p.Ile237Thr)	SUCLG1 (I237T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2077410	NM_003849.4(SUCLG1):c.694A>G (p.Asn232Asp)	SUCLG1 (N232D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2081466	NM_003849.4(SUCLG1):c.692T>C (p.Phe231Ser)	SUCLG1 (F231S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2057738	NM_003849.4(SUCLG1):c.688C>T (p.Pro230Ser)	SUCLG1 (P230S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2196958	NM_003849.4(SUCLG1):c.681A>C (p.Gly227=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1596348	NM_003849.4(SUCLG1):c.674-18A>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 684111	NM_003849.4(SUCLG1):c.673+236C>T	SUCLG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2062064	NM_003849.4(SUCLG1):c.673+19A>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1937284	NM_003849.4(SUCLG1):c.673+19A>C	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2850714	NM_003849.4(SUCLG1):c.673+1G>C	SUCLG1	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 9	GLikely pathogenic
Select item 1354680	NM_003849.4(SUCLG1):c.670G>A (p.Val224Ile)	SUCLG1 (V224I)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 2728086	NM_003849.4(SUCLG1):c.669C>T (p.Cys223=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2094155	NM_003849.4(SUCLG1):c.666G>A (p.Leu222=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2413154	NM_003849.4(SUCLG1):c.665T>C (p.Leu222Ser)	SUCLG1 (L222S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2059746	NM_003849.4(SUCLG1):c.654G>A (p.Leu218=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1547419	NM_003849.4(SUCLG1):c.652T>C (p.Leu218=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1686238	NM_003849.4(SUCLG1):c.643C>T (p.Gln215Ter)	SUCLG1 (Q215*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 9	GPathogenic
Select item 1357425	NM_003849.4(SUCLG1):c.640A>G (p.Thr214Ala)	SUCLG1 (T214A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1036157	NM_003849.4(SUCLG1):c.640A>C (p.Thr214Pro)	SUCLG1 (T214P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 561121	NM_003849.4(SUCLG1):c.635A>G (p.Gln212Arg)	SUCLG1 (Q212R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2130425	NM_003849.4(SUCLG1):c.633C>T (p.His211=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1898169	NM_003849.4(SUCLG1):c.631C>T (p.His211Tyr)	SUCLG1 (H211Y)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 139371	NM_003849.4(SUCLG1):c.627A>C (p.Ala209=)	SUCLG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 992828	NM_003849.4(SUCLG1):c.626C>A (p.Ala209Glu)	SUCLG1 (A209E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GPathogenic
Select item 2309944	NM_003849.4(SUCLG1):c.602G>C (p.Arg201Thr)	SUCLG1 (R201T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051794	NM_003849.4(SUCLG1):c.601A>G (p.Arg201Gly)	SUCLG1 (R201G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2493676	NM_003849.4(SUCLG1):c.595G>T (p.Val199Leu)	SUCLG1 (V199L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 337155	NM_003849.4(SUCLG1):c.590-6G>A	SUCLG1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 386358	NM_003849.4(SUCLG1):c.590-7C>T	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GBenign/Likely benign
Select item 1974052	NM_003849.4(SUCLG1):c.590-11C>T	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2079840	NM_003849.4(SUCLG1):c.590-16A>C	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign

<< First< Prev

Page of 4