"Ambry Genetics"[submitter] AND "MDH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1768918	NM_005918.4(MDH2):c.9C>T (p.Ser3=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2625188	NM_005918.4(MDH2):c.10G>A (p.Ala4Thr)	MDH2 (A4T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1769336	NM_005918.4(MDH2):c.12C>A (p.Ala4=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1364616	NM_005918.4(MDH2):c.16G>C (p.Ala6Pro)	MDH2 (A6P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1782268	NM_005918.4(MDH2):c.18C>T (p.Ala6=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2560376	NM_005918.4(MDH2):c.19C>T (p.Arg7Trp)	MDH2 (R7W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2620143	NM_005918.4(MDH2):c.20G>C (p.Arg7Pro)	MDH2 (R7P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2562840	NM_005918.4(MDH2):c.21G>A (p.Arg7=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1474449	NM_005918.4(MDH2):c.22C>G (p.Pro8Ala)	MDH2 (P8A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1796174	NM_005918.4(MDH2):c.27C>T (p.Ala9=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2562839	NM_005918.4(MDH2):c.29G>C (p.Ser10Thr)	MDH2 (S10T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2107497	NM_005918.4(MDH2):c.30C>G (p.Ser10Arg)	MDH2 (S10R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1641449	NM_005918.4(MDH2):c.30C>T (p.Ser10=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1729949	NM_005918.4(MDH2):c.32C>T (p.Ala11Val)	MDH2 (A11V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1731054	NM_005918.4(MDH2):c.33T>A (p.Ala11=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1733071	NM_005918.4(MDH2):c.35C>T (p.Ala12Val)	MDH2 (A12V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2562829	NM_005918.4(MDH2):c.40C>G (p.Arg14Gly)	MDH2 (R14G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1738646	NM_005918.4(MDH2):c.41G>A (p.Arg14His)	MDH2 (R14H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1739524	NM_005918.4(MDH2):c.42C>T (p.Arg14=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2625185	NM_005918.4(MDH2):c.43C>A (p.Arg15Ser)	MDH2 (R15S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1740303	NM_005918.4(MDH2):c.43C>T (p.Arg15Cys)	MDH2 (R15C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1538879	NM_005918.4(MDH2):c.45C>T (p.Arg15=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1494675	NM_005918.4(MDH2):c.46A>G (p.Ser16Gly)	MDH2 (S16G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1743184	NM_005918.4(MDH2):c.47G>T (p.Ser16Ile)	MDH2 (S16I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1743939	NM_005918.4(MDH2):c.48C>T (p.Ser16=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1743933	NM_005918.4(MDH2):c.48C>G (p.Ser16Arg)	MDH2 (S16R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1746681	NM_005918.4(MDH2):c.52A>C (p.Ser18Arg)	MDH2 (S18R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2597079	NM_005918.4(MDH2):c.55A>C (p.Thr19Pro)	MDH2 (T19P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1749145	NM_005918.4(MDH2):c.56C>A (p.Thr19Asn)	MDH2 (T19N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1749743	NM_005918.4(MDH2):c.57C>T (p.Thr19=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1751603	NM_005918.4(MDH2):c.60G>A (p.Ser20=)	MDH2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1752176	NM_005918.4(MDH2):c.61G>T (p.Ala21Ser)	MDH2 (A21S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1926936	NM_005918.4(MDH2):c.62C>T (p.Ala21Val)	MDH2 (A21V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 1757642	NM_005918.4(MDH2):c.71A>T (p.Asn24Ile)	MDH2 (N24I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1758209	NM_005918.4(MDH2):c.72T>C (p.Asn24=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1758728	NM_005918.4(MDH2):c.73G>C (p.Ala25Pro)	MDH2 (A25P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2625184	NM_005918.4(MDH2):c.74C>A (p.Ala25Asp)	MDH2 (A25D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1759748	NM_005918.4(MDH2):c.75T>C (p.Ala25=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1761579	NM_005918.4(MDH2):c.79G>C (p.Val27Leu)	MDH2 (V27L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1761573	NM_005918.4(MDH2):c.79G>A (p.Val27Ile)	MDH2 (V27I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1764367	NM_005918.4(MDH2):c.86T>C (p.Val29Ala)	MDH2 (V29A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1603047	NM_005918.4(MDH2):c.87G>T (p.Val29=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1563587	NM_005918.4(MDH2):c.87G>A (p.Val29=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2468151	NM_005918.4(MDH2):c.88C>G (p.Leu30Val)	MDH2 (L30V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1765781	NM_005918.4(MDH2):c.90A>G (p.Leu30=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2447837	NM_005918.4(MDH2):c.93G>A (p.Gly31=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1767878	NM_005918.4(MDH2):c.96C>T (p.Ala32=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1767876	NM_005918.4(MDH2):c.96C>G (p.Ala32=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1768542	NM_005918.4(MDH2):c.98C>G (p.Ser33Cys)	MDH2 (S33C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1796984	NM_005918.4(MDH2):c.100G>A (p.Gly34Arg)	MDH2 (G34R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1770615	NM_005918.4(MDH2):c.102A>T (p.Gly34=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1788787	NM_005918.4(MDH2):c.108C>T (p.Ile36=)	MDH2	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1788751	NM_005918.4(MDH2):c.108C>G (p.Ile36Met)	MDH2 (I36M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1794780	NM_005918.4(MDH2):c.110G>A (p.Gly37Glu)	MDH2 (G37E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1736235	NM_005918.4(MDH2):c.115C>A (p.Pro39Thr)	MDH2 (P39T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1744475	NM_005918.4(MDH2):c.118C>G (p.Leu40Val)	MDH2 (L40V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1746947	NM_005918.4(MDH2):c.119T>C (p.Leu40Pro)	MDH2 (L40P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1765174	NM_005918.4(MDH2):c.126T>A (p.Leu42=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1769312	NM_005918.4(MDH2):c.129C>T (p.Leu43=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1769617	NM_005918.4(MDH2):c.130C>T (p.Leu44=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1770117	NM_005918.4(MDH2):c.132G>T (p.Leu44=)	MDH2	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1770109	NM_005918.4(MDH2):c.132G>A (p.Leu44=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1772217	NM_005918.4(MDH2):c.141C>T (p.Ser47=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1772678	NM_005918.4(MDH2):c.143C>T (p.Pro48Leu)	MDH2 (P48L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1772883	NM_005918.4(MDH2):c.144C>A (p.Pro48=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2561519	NM_005918.4(MDH2):c.146T>C (p.Leu49Ser)	MDH2 (L49S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1520513	NM_005918.4(MDH2):c.157dup (p.Leu53fs)	MDH2 (L53fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2560375	NM_005918.4(MDH2):c.159G>A (p.Leu53=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1776353	NM_005918.4(MDH2):c.160A>G (p.Thr54Ala)	MDH2 (T54A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2447835	NM_005918.4(MDH2):c.162C>T (p.Thr54=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1777436	NM_005918.4(MDH2):c.165C>G (p.Leu55=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2469335	NM_005918.4(MDH2):c.167A>G (p.Tyr56Cys)	MDH2 (Y56C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1587236	NM_005918.4(MDH2):c.168T>C (p.Tyr56=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2561520	NM_005918.4(MDH2):c.169G>A (p.Asp57Asn)	MDH2 (D57N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1778515	NM_005918.4(MDH2):c.170A>G (p.Asp57Gly)	MDH2 (D57G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1778933	NM_005918.4(MDH2):c.172A>G (p.Ile58Val)	MDH2 (I58V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1779359	NM_005918.4(MDH2):c.174C>T (p.Ile58=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1779552	NM_005918.4(MDH2):c.175G>A (p.Ala59Thr)	MDH2 (A59T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1779760	NM_005918.4(MDH2):c.176C>T (p.Ala59Val)	MDH2 (A59V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1779756	NM_005918.4(MDH2):c.176C>A (p.Ala59Glu)	MDH2 (A59E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1629809	NM_005918.4(MDH2):c.177G>A (p.Ala59=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1780317	NM_005918.4(MDH2):c.179A>C (p.His60Pro)	MDH2 (H60P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2496820	NM_005918.4(MDH2):c.180C>T (p.His60=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1780915	NM_005918.4(MDH2):c.182C>T (p.Thr61Ile)	MDH2 (T61I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2562827	NM_005918.4(MDH2):c.184C>A (p.Pro62Thr)	MDH2 (P62T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2561518	NM_005918.4(MDH2):c.186C>A (p.Pro62=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2496818	NM_005918.4(MDH2):c.186C>G (p.Pro62=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1643318	NM_005918.4(MDH2):c.186C>T (p.Pro62=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1781861	NM_005918.4(MDH2):c.187G>A (p.Gly63Arg)	MDH2 (G63R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1782226	NM_005918.4(MDH2):c.189A>G (p.Gly63=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1782654	NM_005918.4(MDH2):c.191T>G (p.Val64Gly)	MDH2 (V64G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1783385	NM_005918.4(MDH2):c.195C>G (p.Ala65=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1660831	NM_005918.4(MDH2):c.195C>T (p.Ala65=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1395021	NM_005918.4(MDH2):c.196G>A (p.Ala66Thr)	MDH2 (A66T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1784143	NM_005918.4(MDH2):c.199G>T (p.Asp67Tyr)	MDH2 (D67Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2561516	NM_005918.4(MDH2):c.206G>A (p.Ser69Asn)	MDH2 (S69N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1785704	NM_005918.4(MDH2):c.208C>T (p.His70Tyr)	MDH2 (H70Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1786211	NM_005918.4(MDH2):c.211A>G (p.Ile71Val)	MDH2 (I71V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1786543	NM_005918.4(MDH2):c.213C>T (p.Ile71=)	MDH2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1786857	NM_005918.4(MDH2):c.215A>C (p.Glu72Ala)	MDH2 (E72A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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