Related gene-specific medical variations for Gene (Select 100129794) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367058	NM_030631.4(SLC25A21):c.43C>T (p.Arg15Trp)	SLC25A21, SLC25A21-AS1 (R15W)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial DNA depletion syndrome 18	GUncertain significance
Select item 3024861	NM_030631.4(SLC25A21):c.-210C>A	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3021154	NM_030631.4(SLC25A21):c.6C>T (p.Ser2=)	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3011673	NM_030631.4(SLC25A21):c.38C>T (p.Ala13Val)	SLC25A21-AS1, SLC25A21 (A13V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3011104	NM_030631.4(SLC25A21):c.70+9A>G	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2956627	NM_030631.4(SLC25A21):c.15T>C (p.Pro5=)	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2751917	NM_030631.4(SLC25A21):c.62G>C (p.Gly21Ala)	SLC25A21, SLC25A21-AS1 (G21A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2288343	NM_030631.4(SLC25A21):c.19G>A (p.Val7Ile)	SLC25A21, SLC25A21-AS1 (V7I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2144785	NM_030631.4(SLC25A21):c.52G>T (p.Val18Leu)	SLC25A21, SLC25A21-AS1 (V18L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1939440	NM_030631.4(SLC25A21):c.70+15C>T	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1928750	NM_030631.4(SLC25A21):c.51C>G (p.Ile17Met)	SLC25A21, SLC25A21-AS1 (I17M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance