Related gene-specific medical variations for Gene (Select 402) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351658	NM_001667.4(ARL2):c.417C>T (p.Arg139=)	ARL2, ARL2-SNX15	Single nucleotide variant (synonymous variant +1 more)	ARL2-related condition	GLikely benign
Select item 3315048	NM_001667.4(ARL2):c.478G>A (p.Val160Ile)	ARL2, ARL2-SNX15 (V133I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129552	NM_001667.4(ARL2):c.316C>A (p.Leu106Ile)	ARL2, ARL2-SNX15 (L106I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129551	NM_001667.4(ARL2):c.29T>C (p.Met10Thr)	ARL2, ARL2-SNX15 +1 more (M10T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129550	NM_001667.4(ARL2):c.118G>A (p.Asp40Asn)	ARL2, ARL2-SNX15 (D40N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2480801	NM_001667.4(ARL2):c.124G>A (p.Asp42Asn)	ARL2, ARL2-SNX15 (D42N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2462426	NM_001667.4(ARL2):c.442C>T (p.Arg148Cys)	ARL2, ARL2-SNX15 (R121C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406741	NM_001667.4(ARL2):c.443G>A (p.Arg148His)	ARL2, ARL2-SNX15 (R148H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406706	NM_001667.4(ARL2):c.287G>A (p.Arg96His)	ARL2, ARL2-SNX15 (R96H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2393174	NM_001667.4(ARL2):c.416G>A (p.Arg139His)	ARL2, ARL2-SNX15 (R139H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334969	NM_001667.4(ARL2):c.221G>A (p.Arg74Gln)	ARL2, ARL2-SNX15 (R74Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2307491	NM_001667.4(ARL2):c.500C>T (p.Pro167Leu)	ARL2, ARL2-SNX15 (P140L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234319	NM_001667.4(ARL2):c.419A>T (p.Glu140Val)	ARL2-SNX15, ARL2 (E140V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 983502	NM_001667.4(ARL2):c.44G>T (p.Arg15Leu)	ARL2, ARL2-SNX15 +1 more (R15L)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	GPathogenic