SUCLG2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 1938120	NC_000003.12:g.67360640A>G	SUCLG2 (F438L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957150	NC_000003.12:g.67360675G>A	SUCLG2 (A426V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916871	NC_000003.12:g.67360676C>T	SUCLG2 (A426T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257600	NM_001177599.2(SUCLG2):c.1273G>A (p.Val425Ile)	SUCLG2 (V425I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2748887	NC_000003.12:g.67360689G>T	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394676	NM_001177599.2(SUCLG2):c.1245T>A (p.Asn415Lys)	SUCLG2 (N415K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817749	NC_000003.12:g.67360719T>C	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496942	NC_000003.12:g.67360738A>G	SUCLG2 (M405T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257599	NM_001177599.2(SUCLG2):c.1210T>C (p.Tyr404His)	SUCLG2 (Y404H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 791936	NM_001177599.2(SUCLG2):c.1203del (p.Gly402fs)	SUCLG2 (G402fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 3056708	NM_003848.4(SUCLG2):c.1186A>G (p.Thr396Ala)	SUCLG2 (T396A)	Single nucleotide variant (missense variant +1 more)	SUCLG2-related disorder	GBenign
Select item 3056433	NM_003848.4(SUCLG2):c.1184-7C>T	SUCLG2	Single nucleotide variant (intron variant)	SUCLG2-related disorder	GBenign
Select item 3045530	NM_003848.4(SUCLG2):c.1184-10C>T	SUCLG2	Single nucleotide variant (intron variant)	SUCLG2-related disorder	GLikely benign
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 1988819	NM_003848.4(SUCLG2):c.1183+20C>T	SUCLG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2753199	NM_003848.4(SUCLG2):c.1175G>A (p.Arg392Gln)	SUCLG2 (R392Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2363351	NM_003848.4(SUCLG2):c.1162C>G (p.Pro388Ala)	SUCLG2 (P388A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323519	NM_003848.4(SUCLG2):c.1150G>A (p.Glu384Lys)	SUCLG2 (E384K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2080642	NM_003848.4(SUCLG2):c.1142G>A (p.Arg381Gln)	SUCLG2 (R381Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 257598	NM_003848.4(SUCLG2):c.1141C>T (p.Arg381Trp)	SUCLG2 (R381W)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1370835	NM_003848.4(SUCLG2):c.1121A>G (p.Asn374Ser)	SUCLG2 (N374S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981426	NM_003848.4(SUCLG2):c.1120A>C (p.Asn374His)	SUCLG2 (N374H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2212257	NM_003848.4(SUCLG2):c.1106G>T (p.Cys369Phe)	SUCLG2 (C369F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526945	NM_003848.4(SUCLG2):c.1099G>A (p.Val367Ile)	SUCLG2 (V367I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 766006	NM_003848.4(SUCLG2):c.1098C>T (p.Ile366=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276009	NM_003848.4(SUCLG2):c.1096A>G (p.Ile366Val)	SUCLG2 (I366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 684536	NM_003848.4(SUCLG2):c.1082A>G (p.Asn361Ser)	SUCLG2 (N361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620434	NM_003848.4(SUCLG2):c.1070C>G (p.Ala357Gly)	SUCLG2 (A357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2864075	NM_003848.4(SUCLG2):c.1062+10_1062+15del	SUCLG2	Deletion (intron variant)	not provided	GLikely benign
Select item 2149742	NM_003848.4(SUCLG2):c.1062+5C>T	SUCLG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2474502	NM_003848.4(SUCLG2):c.1045C>T (p.Leu349Phe)	SUCLG2 (L349F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736528	NM_003848.4(SUCLG2):c.1041A>G (p.Lys347=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774167	NM_003848.4(SUCLG2):c.1040A>G (p.Lys347Arg)	SUCLG2 (K347R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3171927	NM_003848.4(SUCLG2):c.1018G>A (p.Ala340Thr)	SUCLG2 (A340T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2902945	NM_003848.4(SUCLG2):c.1018G>T (p.Ala340Ser)	SUCLG2 (A340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171926	NM_003848.4(SUCLG2):c.1009G>A (p.Val337Ile)	SUCLG2 (V337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2193152	NM_003848.4(SUCLG2):c.1004del (p.Gly335fs)	SUCLG2 (G335fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2151143	NM_003848.4(SUCLG2):c.970G>A (p.Gly324Ser)	SUCLG2 (G324S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2062177	NM_003848.4(SUCLG2):c.959T>C (p.Ile320Thr)	SUCLG2 (I320T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711927	NM_003848.4(SUCLG2):c.957C>T (p.Ile319=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004338	NM_003848.4(SUCLG2):c.920-12T>C	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129362	NM_003848.4(SUCLG2):c.920-15A>T	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908230	NM_003848.4(SUCLG2):c.919+15T>C	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109672	NM_003848.4(SUCLG2):c.914G>C (p.Cys305Ser)	SUCLG2 (C305S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708758	NM_003848.4(SUCLG2):c.898G>T (p.Asp300Tyr)	SUCLG2 (D300Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855538	NM_003848.4(SUCLG2):c.887A>G (p.Tyr296Cys)	SUCLG2 (Y296C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022948	NM_003848.4(SUCLG2):c.839del (p.Lys279_Ser280insTer)	SUCLG2	Deletion (nonsense)	not provided	GUncertain significance
Select item 2716078	NM_003848.4(SUCLG2):c.837A>G (p.Lys279=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082694	NM_003848.4(SUCLG2):c.832G>A (p.Asp278Asn)	SUCLG2 (D278N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889120	NM_003848.4(SUCLG2):c.805C>T (p.Arg269Ter)	SUCLG2 (R269*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2187119	NM_003848.4(SUCLG2):c.795C>T (p.Asn265=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982141	NM_003848.4(SUCLG2):c.790G>A (p.Asp264Asn)	SUCLG2 (D264N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257602	NM_003848.4(SUCLG2):c.758-10_758-8del	SUCLG2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 2971367	NM_003848.4(SUCLG2):c.758-14T>C	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987606	NM_003848.4(SUCLG2):c.758-18del	SUCLG2	Deletion (intron variant)	not provided	GLikely benign
Select item 1989702	NM_003848.4(SUCLG2):c.757+16A>G	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590122	NM_003848.4(SUCLG2):c.757+14dup	SUCLG2	Duplication (intron variant)	not provided	GBenign
Select item 3019958	NM_003848.4(SUCLG2):c.757+14del	SUCLG2	Deletion (intron variant)	not provided	GBenign
Select item 3004383	NM_003848.4(SUCLG2):c.749A>G (p.Glu250Gly)	SUCLG2 (E250G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171937	NM_003848.4(SUCLG2):c.716A>T (p.Gln239Leu)	SUCLG2 (Q239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2904460	NM_003848.4(SUCLG2):c.707A>T (p.Asp236Val)	SUCLG2 (D236V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051445	NM_003848.4(SUCLG2):c.678G>A (p.Thr226=)	SUCLG2	Single nucleotide variant (synonymous variant)	SUCLG2-related disorder	GLikely benign
Select item 3323521	NM_003848.4(SUCLG2):c.673A>G (p.Ile225Val)	SUCLG2 (I225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1594157	NM_003848.4(SUCLG2):c.660+13T>C	SUCLG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1940627	NM_003848.4(SUCLG2):c.660+7A>G	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2393598	NM_003848.4(SUCLG2):c.640G>A (p.Val214Ile)	SUCLG2 (V214I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3009908	NM_003848.4(SUCLG2):c.639C>T (p.Phe213=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717833	NM_003848.4(SUCLG2):c.633A>G (p.Leu211=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1924839	NM_003848.4(SUCLG2):c.617G>A (p.Arg206Gln)	SUCLG2 (R206Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918670	NM_003848.4(SUCLG2):c.610G>A (p.Ala204Thr)	SUCLG2 (A204T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395872	NM_003848.4(SUCLG2):c.608A>C (p.Gln203Pro)	SUCLG2 (Q203P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2263211	NM_003848.4(SUCLG2):c.601G>C (p.Asp201His)	SUCLG2 (D201H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1471100	NM_003848.4(SUCLG2):c.592G>A (p.Gly198Arg)	SUCLG2 (G198R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181352	NM_003848.4(SUCLG2):c.585T>A (p.Ile195=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000390	NM_003848.4(SUCLG2):c.570+17G>C	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968299	NM_003848.4(SUCLG2):c.570+16G>A	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020307	NM_003848.4(SUCLG2):c.570+14C>T	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2428380	NM_003848.4(SUCLG2):c.554C>T (p.Pro185Leu)	SUCLG2 (P185L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871256	NM_003848.4(SUCLG2):c.542C>T (p.Ala181Val)	SUCLG2 (A181V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171935	NM_003848.4(SUCLG2):c.527A>C (p.Asp176Ala)	SUCLG2 (D176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791129	NM_003848.4(SUCLG2):c.522C>T (p.Gly174=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171934	NM_003848.4(SUCLG2):c.517G>T (p.Gly173Trp)	SUCLG2 (G173W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171933	NM_003848.4(SUCLG2):c.517G>C (p.Gly173Arg)	SUCLG2 (G173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2895100	NM_003848.4(SUCLG2):c.495C>T (p.Pro165=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487305	NM_003848.4(SUCLG2):c.495del (p.Val166fs)	SUCLG2 (V166fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1555337	NM_003848.4(SUCLG2):c.492C>A (p.Gly164=)	SUCLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171932	NM_003848.4(SUCLG2):c.485G>T (p.Cys162Phe)	SUCLG2 (C162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1465098	NM_003848.4(SUCLG2):c.479G>A (p.Arg160Gln)	SUCLG2 (R160Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171931	NM_003848.4(SUCLG2):c.455C>A (p.Thr152Asn)	SUCLG2 (T152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254294	NM_003848.4(SUCLG2):c.446C>A (p.Ser149Tyr)	SUCLG2 (S149Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2955176	NM_003848.4(SUCLG2):c.418-12C>T	SUCLG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2698779	NM_003848.4(SUCLG2):c.418-20C>A	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563924	NM_003848.4(SUCLG2):c.417+10A>G	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936766	NM_003848.4(SUCLG2):c.417+7T>C	SUCLG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900802	NM_003848.4(SUCLG2):c.414C>A (p.Asn138Lys)	SUCLG2 (N138K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165513	NM_003848.4(SUCLG2):c.377C>T (p.Ala126Val)	SUCLG2 (A126V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1951649	NM_003848.4(SUCLG2):c.358A>G (p.Met120Val)	SUCLG2 (M120V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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