"ARL6-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1376159	NM_001278293.3(ARL6):c.33T>A (p.Leu11=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	ARL6-related condition +2 more	GLikely benign
Select item 1083441	NM_001278293.3(ARL6):c.93G>A (p.Thr31=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	ARL6-related condition +2 more	GLikely benign
Select item 2629259	NM_001278293.3(ARL6):c.118T>G (p.Ser40Ala)	ARL6 (S40A)	Single nucleotide variant (missense variant +1 more)	ARL6-related condition	GUncertain significance
Select item 663541	NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn)	ARL6 (I47N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +2 more	GUncertain significance
Select item 1918874	NM_001278293.3(ARL6):c.153A>C (p.Ile51=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +2 more	GLikely benign
Select item 1028925	NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)	ARL6 (Y76*)	Single nucleotide variant (nonsense +1 more)	ARL6-related condition +2 more	GPathogenic/Likely pathogenic
Select item 1026308	NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn)	ARL6 (D110N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +3 more	GUncertain significance
Select item 900891	NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)	ARL6 (R122Q)	Single nucleotide variant (missense variant +1 more)	ARL6-related condition +4 more	GUncertain significance
Select item 798181	NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly)	ARL6 (C148G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3058599	NM_001278293.3(ARL6):c.473A>G (p.His158Arg)	ARL6 (H158R)	Single nucleotide variant (missense variant +1 more)	ARL6-related condition	GUncertain significance
Select item 840342	NM_001278293.3(ARL6):c.493A>G (p.Ile165Val)	ARL6 (I165V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 936753	NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg)	ARL6 (G167R)	Single nucleotide variant (missense variant +2 more)	ARL6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1319009	NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe)	ARL6 (L177F)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 1 +5 more	GUncertain significance
Select item 3042115	NM_001278293.3(ARL6):c.535+122A>G	ARL6	Single nucleotide variant (intron variant)	ARL6-related condition	GLikely benign
Select item 346943	NM_001278293.3(ARL6):c.536-4T>C	ARL6	Single nucleotide variant (intron variant)	ARL6-related condition +3 more	GConflicting classifications of pathogenicity