ClinVar for MedGen (Select 414492) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585292	NM_003705.5(SLC25A12):c.101T>A (p.Met34Lys)	SLC25A12 (M34K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39	GUncertain significance
Select item 2579196	GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0	SLC25A12	Copy number loss	Developmental and epileptic encephalopathy, 39	GPathogenic
Select item 1712507	NM_003705.5(SLC25A12):c.1447-2_1447-1del	SLC25A12	Deletion (splice acceptor variant)	Developmental and epileptic encephalopathy, 39	GPathogenic
Select item 1712506	NM_003705.5(SLC25A12):c.1295C>T (p.Ala432Val)	SLC25A12 (A432V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39	GPathogenic
Select item 1524654	NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp)	SLC25A12 (E290D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1501512	NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln)	SLC25A12 (R490Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1341560	NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser)	SLC25A12 (F137S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39	GLikely pathogenic
Select item 1332979	NM_003705.5(SLC25A12):c.210-21A>G	SLC25A12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 982872	NM_003705.5(SLC25A12):c.225del (p.Glu76fs)	SLC25A12 (E76fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 39	GLikely pathogenic
Select item 930679	NM_003705.5(SLC25A12):c.1171+17C>G	SLC25A12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 917534	NM_003705.5(SLC25A12):c.325G>A (p.Glu109Lys)	SLC25A12 (E109K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 39	GUncertain significance
Select item 813326	GRCh37/hg19 2q31.1(chr2:172644081-172644457)	SLC25A12	Copy number loss	Developmental and epileptic encephalopathy, 39	GPathogenic
Select item 804390	NM_003705.5(SLC25A12):c.326-2A>C	SLC25A12	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 39	GLikely pathogenic
Select item 793468	NM_003705.5(SLC25A12):c.1548G>A (p.Val516=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 39 +1 more	GConflicting classifications of pathogenicity
Select item 644015	NM_003705.5(SLC25A12):c.930+3dup	SLC25A12	Duplication (intron variant)	not provided +1 more	GUncertain significance
Select item 626170	NM_003705.5(SLC25A12):c.67-6T>A	SLC25A12	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 39	GUncertain significance
Select item 585055	NM_003705.5(SLC25A12):c.125G>A (p.Arg42His)	SLC25A12 (R42H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 546880	NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)	SLC25A12 (A552T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39 +2 more	GConflicting classifications of pathogenicity
Select item 488597	NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn)	SLC25A12 (D540N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39	GLikely pathogenic
Select item 332350	NM_003705.4(SLC25A12):c.-67_-66GC[7]	SLC25A12	Microsatellite	Developmental and epileptic encephalopathy, 39	GUncertain significance
Select item 332347	NM_003705.5(SLC25A12):c.13G>A (p.Val5Met)	SLC25A12 (V5M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39	GUncertain significance
Select item 332346	NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=)	SLC25A12	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 39 +1 more	GBenign
Select item 332325	NM_003705.5(SLC25A12):c.*994C>T	SLC25A12	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 39	GUncertain significance
Select item 253136	NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln)	SLC25A12 (R353Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 6148	NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg)	SLC25A12 (Q590R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 39	GPathogenic

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Items: 25