ClinVar for MedGen (Select 462826) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247379	NC_000002.11:g.(?_84650870)_(84652747_?)del	SUCLG1	Deletion	Mitochondrial DNA depletion syndrome 9	GLikely pathogenic
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 3005619	NM_003849.4(SUCLG1):c.835del (p.Ser279fs)	SUCLG1 (S279fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 9	GPathogenic
Select item 2991311	NM_003849.4(SUCLG1):c.240C>G (p.Thr80=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2983898	NM_003849.4(SUCLG1):c.532-15T>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2982185	NM_003849.4(SUCLG1):c.445C>T (p.Gln149Ter)	SUCLG1 (Q149*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 9	GPathogenic
Select item 2961459	NM_003849.4(SUCLG1):c.589+14T>C	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2957626	NM_003849.4(SUCLG1):c.202-14C>T	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2956539	NM_003849.4(SUCLG1):c.532-11A>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2896943	NM_003849.4(SUCLG1):c.483C>T (p.Arg161=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2856714	NM_003849.4(SUCLG1):c.319-16G>A	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 2809558	NM_003849.4(SUCLG1):c.97+12C>A	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 2763720	NM_003849.4(SUCLG1):c.264A>T (p.Pro88=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
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 2734239	NM_003849.4(SUCLG1):c.319-1G>A	SUCLG1	Single nucleotide variant (splice acceptor variant)	Mitochondrial DNA depletion syndrome 9	GLikely pathogenic
Select item 2730902	NM_003849.4(SUCLG1):c.24C>T (p.Ala8=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
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 2727922	NM_003849.4(SUCLG1):c.589+12_589+15del	SUCLG1	Microsatellite (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
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 2723737	NM_003849.4(SUCLG1):c.826-15T>C	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2723241	NM_003849.4(SUCLG1):c.531+15A>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
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 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 2716251	NM_003849.4(SUCLG1):c.342G>A (p.Thr114=)	SUCLG1	Single nucleotide variant (synonymous 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 2705644	NM_003849.4(SUCLG1):c.318+19G>A	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2694952	NM_003849.4(SUCLG1):c.359T>G (p.Val120Gly)	SUCLG1 (V120G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2436521	NM_003849.4(SUCLG1):c.548T>G (p.Ile183Ser)	SUCLG1 (I183S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
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 2424778	NC_000002.11:g.(?_84650870)_(84686393_?)dup	SUCLG1	Duplication	Mitochondrial DNA depletion syndrome 9	GUncertain significance
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 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 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 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 2196358	NM_003849.4(SUCLG1):c.395C>T (p.Ala132Val)	SUCLG1 (A132V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2194780	NM_003849.4(SUCLG1):c.97+13A>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2191091	NM_003849.4(SUCLG1):c.319-20C>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2184269	NM_003849.4(SUCLG1):c.132A>G (p.Thr44=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2180604	NM_003849.4(SUCLG1):c.218A>T (p.Gln73Leu)	SUCLG1 (Q73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2173525	NM_003849.4(SUCLG1):c.319-16G>T	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2167918	NM_003849.4(SUCLG1):c.38C>T (p.Thr13Ile)	SUCLG1 (T13I)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2162850	NM_003849.4(SUCLG1):c.25G>T (p.Ala9Ser)	SUCLG1 (A9S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2159898	NM_003849.4(SUCLG1):c.52A>G (p.Ser18Gly)	SUCLG1 (S18G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2157792	NM_003849.4(SUCLG1):c.12C>T (p.Thr4=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2153545	NM_003849.4(SUCLG1):c.45C>T (p.Val15=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2147509	NM_003849.4(SUCLG1):c.246C>T (p.Leu82=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2146136	NM_003849.4(SUCLG1):c.90C>T (p.Ser30=)	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 2143797	NM_003849.4(SUCLG1):c.152A>G (p.Tyr51Cys)	SUCLG1 (Y51C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	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 2140629	NM_003849.4(SUCLG1):c.178T>A (p.Cys60Ser)	SUCLG1 (C60S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
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 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 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 2116758	NM_003849.4(SUCLG1):c.451G>C (p.Asp151His)	SUCLG1 (D151H)	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 2096063	NM_003849.4(SUCLG1):c.383C>A (p.Ala128Asp)	SUCLG1 (A128D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
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 2091821	NM_003849.4(SUCLG1):c.435A>G (p.Glu145=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2087150	NM_003849.4(SUCLG1):c.34G>T (p.Ala12Ser)	SUCLG1 (A12S)	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 2080552	NM_003849.4(SUCLG1):c.385A>G (p.Ile129Val)	SUCLG1 (I129V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2079840	NM_003849.4(SUCLG1):c.590-16A>C	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2078271	NM_003849.4(SUCLG1):c.366G>A (p.Pro122=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	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 2063439	NM_003849.4(SUCLG1):c.1014+6C>A	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2063162	NM_003849.4(SUCLG1):c.284A>G (p.His95Arg)	SUCLG1 (H95R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
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 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 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 2054473	NM_003849.4(SUCLG1):c.272G>A (p.Gly91Glu)	SUCLG1 (G91E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2053204	NM_003849.4(SUCLG1):c.17C>T (p.Ala6Val)	SUCLG1 (A6V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	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 2049235	NM_003849.4(SUCLG1):c.1A>C (p.Met1Leu)	SUCLG1 (M1L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2047171	NM_003849.4(SUCLG1):c.119A>G (p.His40Arg)	SUCLG1 (H40R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2044320	NM_003849.4(SUCLG1):c.444C>T (p.Pro148=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2043031	NM_003849.4(SUCLG1):c.65C>T (p.Ala22Val)	SUCLG1 (A22V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
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 2038468	NM_003849.4(SUCLG1):c.98-9A>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2015079	NM_003849.4(SUCLG1):c.285T>C (p.His95=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2014100	NM_003849.4(SUCLG1):c.348T>C (p.Ser116=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
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 2009744	NM_003849.4(SUCLG1):c.501A>T (p.Leu167=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2008855	NM_003849.4(SUCLG1):c.532-4T>A	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 2001663	NM_003849.4(SUCLG1):c.589+17del	SUCLG1	Deletion (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1990639	NM_003849.4(SUCLG1):c.563G>C (p.Gly188Ala)	SUCLG1 (G188A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1982384	NM_003849.4(SUCLG1):c.12C>A (p.Thr4=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1977808	NM_003849.4(SUCLG1):c.193_194delinsAA (p.Gly65Asn)	SUCLG1 (G65N)	Indel (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1977024	NM_003849.4(SUCLG1):c.522A>C (p.Gly174=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9	GLikely 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 1967738	NM_003849.4(SUCLG1):c.97+3G>A	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1964898	NM_003849.4(SUCLG1):c.549T>G (p.Ile183Met)	SUCLG1 (I183M)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1955047	NM_003849.4(SUCLG1):c.389A>G (p.Asn130Ser)	SUCLG1 (N130S)	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 1941577	NM_003849.4(SUCLG1):c.461G>A (p.Arg154Gln)	SUCLG1 (R154Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1939620	NM_003849.4(SUCLG1):c.590-18G>T	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign
Select item 1938222	NM_003849.4(SUCLG1):c.97C>G (p.Leu33Val)	SUCLG1 (L33V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 1937284	NM_003849.4(SUCLG1):c.673+19A>C	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9	GLikely benign

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