"GeneDx"[submitter] AND "SUCLA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 312262	NM_003850.3(SUCLA2):c.*217T>C	SUCLA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1219029	NM_003850.3(SUCLA2):c.*132A>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 203497	NM_003850.3(SUCLA2):c.*14T>A	SUCLA2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 511394	NM_003850.3(SUCLA2):c.1353G>A (p.Lys451=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GLikely benign
Select item 259184	NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=)	SUCLA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882327	NM_003850.3(SUCLA2):c.1320T>C (p.Val440=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 1219484	NM_003850.3(SUCLA2):c.1317+188C>T	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672219	NM_003850.3(SUCLA2):c.1317+167C>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672631	NM_003850.3(SUCLA2):c.1317+166A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817362	NM_003850.3(SUCLA2):c.1267del (p.Ser423fs)	SUCLA2 (S423fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 675586	NM_003850.3(SUCLA2):c.1229-124T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670149	NM_003850.3(SUCLA2):c.1228+211G>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676449	NM_003850.3(SUCLA2):c.1228+51A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371415	NM_003850.3(SUCLA2):c.1228+5G>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1694084	NM_003850.3(SUCLA2):c.1228+4A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1304196	NM_003850.3(SUCLA2):c.1227A>G (p.Gln409=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GUncertain significance
Select item 203962	NM_003850.3(SUCLA2):c.1220G>T (p.Arg407Leu)	SUCLA2 (R407L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1329839	NM_003850.3(SUCLA2):c.1148G>A (p.Arg383His)	SUCLA2 (R383H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194600	NM_003850.3(SUCLA2):c.1108-45T>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211008	NM_003850.3(SUCLA2):c.1108-59T>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244559	NM_003850.3(SUCLA2):c.1108-131G>T	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672630	NM_003850.3(SUCLA2):c.1108-214G>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671628	NM_003850.3(SUCLA2):c.1108-258G>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684103	NM_003850.3(SUCLA2):c.1108-282A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671130	NM_003850.3(SUCLA2):c.1108-304T>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209356	NM_003850.3(SUCLA2):c.1107+278G>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671617	NM_003850.3(SUCLA2):c.1107+268T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261830	NM_003850.3(SUCLA2):c.1107+97T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252235	NM_003850.3(SUCLA2):c.1106dup (p.Val370fs)	SUCLA2 (V370fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 139362	NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn)	SUCLA2 (D367N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 203959	NM_003850.3(SUCLA2):c.1076A>C (p.Glu359Ala)	SUCLA2 (E359A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1211319	NM_003850.3(SUCLA2):c.988G>C (p.Ala330Pro)	SUCLA2 (A330P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 667329	NM_003850.3(SUCLA2):c.985A>G (p.Met329Val)	SUCLA2 (M329V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 450366	NM_003850.3(SUCLA2):c.973G>A (p.Ala325Thr)	SUCLA2 (A325T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363548	NM_003850.3(SUCLA2):c.965-12T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 391092	NM_003850.3(SUCLA2):c.964+17T>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GLikely benign
Select item 203958	NM_003850.3(SUCLA2):c.955G>C (p.Gly319Arg)	SUCLA2 (G319R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1300427	NM_003850.3(SUCLA2):c.942C>T (p.Leu314=)	SUCLA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 203957	NM_003850.3(SUCLA2):c.937G>A (p.Gly313Ser)	SUCLA2 (G313S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203947	NM_003850.3(SUCLA2):c.916A>C (p.Lys306Gln)	SUCLA2 (K306Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 1327813	NM_003850.3(SUCLA2):c.887A>C (p.Gln296Pro)	SUCLA2 (Q296P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5978	NM_003850.3(SUCLA2):c.850C>T (p.Arg284Cys)	SUCLA2 (R284C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3372301	NM_003850.3(SUCLA2):c.827A>G (p.Asn276Ser)	SUCLA2 (N276S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203946	NM_003850.3(SUCLA2):c.811A>G (p.Met271Val)	SUCLA2 (M271V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GBenign/Likely benign
Select item 1259639	NM_003850.3(SUCLA2):c.803-16_803-15del	SUCLA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1247393	NM_003850.3(SUCLA2):c.803-18del	SUCLA2	Deletion (intron variant)	not provided	GBenign
Select item 1264857	NM_003850.3(SUCLA2):c.803-19del	SUCLA2	Deletion (intron variant)	not provided	GBenign
Select item 671696	NM_003850.3(SUCLA2):c.803-70A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227561	NM_003850.3(SUCLA2):c.803-286T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671999	NM_003850.3(SUCLA2):c.803-311G>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670148	NM_003850.3(SUCLA2):c.802+246G>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671695	NM_003850.3(SUCLA2):c.802+87T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208325	NM_003850.3(SUCLA2):c.802+84A>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 139361	NM_003850.3(SUCLA2):c.789T>C (p.Asp263=)	SUCLA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2497801	NM_003850.3(SUCLA2):c.763A>G (p.Ile255Val)	SUCLA2 (I255V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452596	NM_003850.3(SUCLA2):c.760A>G (p.Met254Val)	SUCLA2 (M254V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342807	NM_003850.3(SUCLA2):c.758C>A (p.Thr253Asn)	SUCLA2 (T253N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203963	NM_003850.3(SUCLA2):c.688C>T (p.Pro230Ser)	SUCLA2 (P230S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 203961	NM_003850.2(SUCLA2):c.672_673delinsAG (p.Lys225Glu)	SUCLA2	Indel	not specified +1 more	GUncertain significance
Select item 1246292	NM_003850.3(SUCLA2):c.664-11_664-10del	SUCLA2	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1200663	NM_003850.3(SUCLA2):c.664-159_664-156del	SUCLA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1208404	NM_003850.3(SUCLA2):c.664-189A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679024	NM_003850.3(SUCLA2):c.664-209A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201278	NM_003850.3(SUCLA2):c.663+324C>T	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670147	NM_003850.3(SUCLA2):c.663+229T>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670146	NM_003850.3(SUCLA2):c.663+219G>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 766879	NM_003850.3(SUCLA2):c.663+8G>T	SUCLA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 259185	NM_003850.3(SUCLA2):c.660C>T (p.Leu220=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +2 more	GBenign/Likely benign
Select item 203956	NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly)	SUCLA2 (E206G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 139360	NM_003850.3(SUCLA2):c.595T>A (p.Ser199Thr)	SUCLA2 (S199T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +2 more	GBenign
Select item 1707925	NM_003850.3(SUCLA2):c.581A>G (p.Asp194Gly)	SUCLA2 (D194G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1195628	NM_003850.3(SUCLA2):c.535-116A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676453	NM_003850.3(SUCLA2):c.535-136A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215410	NM_003850.3(SUCLA2):c.534+106T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676457	NM_003850.3(SUCLA2):c.534+104A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179893	NM_003850.3(SUCLA2):c.534+27C>T	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 139359	NM_003850.3(SUCLA2):c.510A>G (p.Ala170=)	SUCLA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 387994	NM_003850.3(SUCLA2):c.490A>C (p.Arg164=)	SUCLA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 203955	NM_003850.3(SUCLA2):c.479G>A (p.Arg160Gln)	SUCLA2 (R160Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1183196	NM_003850.3(SUCLA2):c.473G>A (p.Cys158Tyr)	SUCLA2 (C158Y)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +2 more	GUncertain significance
Select item 3364595	NM_003850.3(SUCLA2):c.453A>G (p.Ile151Met)	SUCLA2 (I151M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507739	NM_003850.3(SUCLA2):c.390T>C (p.Ala130=)	SUCLA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 203953	NM_003850.3(SUCLA2):c.387A>C (p.Lys129Asn)	SUCLA2 (K129N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272107	NM_003850.3(SUCLA2):c.372-6T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 139358	NM_003850.3(SUCLA2):c.371+9C>T	SUCLA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1200382	NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs)	SUCLA2 (V119fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GPathogenic/Likely pathogenic
Select item 2443636	NM_003850.3(SUCLA2):c.338G>A (p.Ser113Asn)	SUCLA2 (S113N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312009	NM_003850.3(SUCLA2):c.299A>C (p.Gln100Pro)	SUCLA2 (Q100P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 203945	NM_003850.3(SUCLA2):c.272-13G>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 676421	NM_003850.3(SUCLA2):c.272-130T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186635	NM_003850.3(SUCLA2):c.272-140G>A	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295570	NM_003850.3(SUCLA2):c.272-247dup	SUCLA2	Duplication (intron variant)	not provided	GBenign
Select item 1195326	NM_003850.3(SUCLA2):c.272-247_272-246dup	SUCLA2	Duplication (intron variant)	not provided	GLikely benign
Select item 1295253	NM_003850.3(SUCLA2):c.272-233del	SUCLA2	Deletion (intron variant)	not provided	GBenign
Select item 671225	NM_003850.3(SUCLA2):c.271+268A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190685	NM_003850.3(SUCLA2):c.271+146T>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212385	NM_003850.3(SUCLA2):c.271+35A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232733	NM_003850.3(SUCLA2):c.271+21T>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 203949	NM_003850.3(SUCLA2):c.268T>A (p.Leu90Ile)	SUCLA2 (L90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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