Related gene-specific medical variations for Gene (Select 55074) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068230	NM_001198533.2(OXR1):c.1028A>G (p.Glu343Gly)	OXR1 (E336G +2 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 2685319	GRCh37/hg19 8q23.1(chr8:107236873-107725506)x1	OXR1	Copy number loss	not provided	GUncertain significance
Select item 2541217	NM_001198533.2(OXR1):c.106G>A (p.Ala36Thr)	OXR1, OXR1-AS1 (A37T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441971	NM_001198533.2(OXR1):c.2308G>A (p.Asp770Asn)	OXR1 (D113N +5 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 2309097	NM_001198533.2(OXR1):c.131C>A (p.Thr44Asn)	OXR1, OXR1-AS1 (T45N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297650	NM_001198533.2(OXR1):c.221-21120G>A	LOC130000962, OXR1 (R35H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805978	NM_001198533.2(OXR1):c.221-21184C>T	LOC130000962, OXR1 (L14F)	Single nucleotide variant (missense variant +1 more)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 996959	NM_001198533.2(OXR1):c.2163+5G>A	OXR1	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 916498	NM_001198533.2(OXR1):c.1459C>G (p.Gln487Glu)	OXR1 (Q480E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873012	NM_001198533.2(OXR1):c.1324del (p.Ser442fs)	OXR1 (S435fs +2 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 873007	NM_001198533.2(OXR1):c.2317-1G>C	OXR1	Single nucleotide variant (splice acceptor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant