"GeneDx"[submitter] AND "MDH2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 1281578	NC_000007.14:g.76047898C>T	MDH2, STYXL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 667830	NM_005918.4(MDH2):c.26C>T (p.Ala9Val)	MDH2 (A9V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1227632	NM_005918.4(MDH2):c.66+34G>T	MDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231747	NM_005918.4(MDH2):c.66+195G>A	MDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178246	NM_005918.4(MDH2):c.319+165A>G	MDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265769	NM_005918.4(MDH2):c.398C>T (p.Pro133Leu)	MDH2 (P133L +1 more)	Single nucleotide variant (missense variant)	Infantile encephalopathy +2 more	GPathogenic
Select item 1407836	NM_005918.4(MDH2):c.517G>A (p.Asp173Asn)	MDH2 (D173N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1294886	NM_005918.4(MDH2):c.556-21G>T	MDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244400	NM_005918.4(MDH2):c.633+17C>T	MDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235203	NM_005918.4(MDH2):c.633+55C>G	MDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279179	NM_005918.4(MDH2):c.633+99C>T	MDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2578324	NM_005918.4(MDH2):c.689T>C (p.Ile230Thr)	MDH2 (I123T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241256	NM_005918.4(MDH2):c.734-157T>C	MDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257977	NM_005918.4(MDH2):c.734-41T>G	MDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267475	NM_005918.4(MDH2):c.885+77del	MDH2	Deletion (intron variant)	not provided	GBenign
Select item 1263605	NM_005918.4(MDH2):c.902A>G (p.Lys301Arg)	MDH2 (K194R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1227356	NM_005918.4(MDH2):c.*180A>G	MDH2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253341	GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1	GTF2IRD1, CLIP2 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 3359461	NM_005918.4(MDH2):c.314A>G (p.Lys105Arg)	MDH2 (K105R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 23