Related gene-specific medical variations for Gene (Select 84816) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246240	NC_000006.11:g.(?_107067057)_(107070864_?)dup	RTN4IP1	Duplication	not provided	GLikely pathogenic
Select item 3064093	NM_032730.5(RTN4IP1):c.475G>T (p.Val159Phe)	RTN4IP1 (V159F +1 more)	Single nucleotide variant (missense variant)	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	GUncertain significance
Select item 2958154	NM_018292.5(QRSL1):c.21A>C (p.Arg7=)	LOC129996910, QRSL1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656809	NM_032730.5(RTN4IP1):c.1173T>G (p.Thr391=)	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2192433	NM_018292.5(QRSL1):c.22G>C (p.Glu8Gln)	LOC129996910, QRSL1 +1 more (E8Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2148273	NM_018292.5(QRSL1):c.10C>T (p.Arg4Trp)	LOC129996910, QRSL1 +1 more (R4W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135596	NM_032730.5(RTN4IP1):c.1188T>C (p.Val396=)	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2026180	NM_018292.5(QRSL1):c.10C>A (p.Arg4=)	LOC129996910, QRSL1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1658640	NM_018292.5(QRSL1):c.24+17C>T	QRSL1, RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1490289	NM_018292.5(QRSL1):c.24+20T>A	QRSL1, RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1460859	NM_018292.5(QRSL1):c.16C>T (p.Leu6Phe)	LOC129996910, QRSL1 +1 more (L6F)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 40 +2 more	GUncertain significance
Select item 1288288	NM_018292.5(QRSL1):c.-55G>A	LOC129996910, QRSL1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1270339	NM_018292.5(QRSL1):c.-7G>A	LOC129996910, QRSL1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1267192	NM_032730.5(RTN4IP1):c.*205T>C	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1238463	NM_032730.5(RTN4IP1):c.*210A>G	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1228467	NM_032730.5(RTN4IP1):c.*236T>C	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1168414	NM_032730.5(RTN4IP1):c.1182T>C (p.Asn394=)	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign