Related gene-specific medical variations for Gene (Select 642987) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284497	NM_001303250.3(SLC25A46):c.10+2T>C	SLC25A46, TMEM232	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1219661	NM_001303250.3(SLC25A46):c.10+449T>C	SLC25A46, TMEM232	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187279	NM_001303250.3(SLC25A46):c.10+431T>C	SLC25A46, TMEM232	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 980175	GRCh37/hg19 5q22.1(chr5:109609489-109944867)x1	TMEM232	Copy number loss	not provided	GLikely benign

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