"GeneDx"[submitter] AND "SLC25A12"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 452173	NM_003705.5(SLC25A12):c.2020G>C (p.Val674Leu)	SLC25A12 (V674L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1060611	NM_003705.5(SLC25A12):c.1557A>T (p.Leu519Phe)	SLC25A12 (L519F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1454667	NM_003705.5(SLC25A12):c.1468C>T (p.Arg490Ter)	SLC25A12 (R490*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 332339	NM_003705.5(SLC25A12):c.1418G>A (p.Arg473Gln)	SLC25A12 (R473Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 452174	NM_003705.5(SLC25A12):c.1385C>T (p.Thr462Met)	SLC25A12 (T462M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368840	NM_003705.5(SLC25A12):c.1342G>A (p.Glu448Lys)	SLC25A12 (E448K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 644015	NM_003705.5(SLC25A12):c.930+3dup	SLC25A12	Duplication (intron variant)	not provided +1 more	GUncertain significance
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic