Related gene-specific medical variations for Gene (Select 80232) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361211	NM_001379403.1(WDR26):c.650A>T (p.Lys217Met)	WDR26 (K117M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065934	NM_001379403.1(WDR26):c.463C>T (p.His155Tyr)	WDR26 (H155Y +1 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3065490	NM_001379403.1(WDR26):c.318AGG[9] (p.Gly125_Gln126insGlyGlyGly)	WDR26	Microsatellite (inframe_insertion)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3065002	NM_001379403.1(WDR26):c.647del (p.Lys216fs)	WDR26 (K116fs +1 more)	Deletion (frameshift variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3064518	NM_001379403.1(WDR26):c.647_655del (p.Lys216_Lys218del)	WDR26	Deletion (inframe_deletion)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3062076	NM_001379403.1(WDR26):c.1039dup (p.Thr347fs)	WDR26 (T231fs +2 more)	Duplication (frameshift variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 2639938	NC_000001.11:g.224454289T>C	CNIH3, WDR26	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2438569	NM_001379403.1(WDR26):c.1510G>A (p.Val504Ile)	WDR26 (V388I +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 2429389	NM_001379403.1(WDR26):c.1025C>T (p.Pro342Leu)	WDR26 (P226L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1684226	NM_001379403.1(WDR26):c.1945-30T>G	MIR4742, WDR26	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1679734	NM_001379403.1(WDR26):c.1355C>T (p.Thr452Met)	WDR26 (T336M +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 1319614	NM_001379403.1(WDR26):c.1113G>A (p.Trp371Ter)	WDR26 (W255* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 996856	NM_001379403.1(WDR26):c.1916G>A (p.Arg639Gln)	WDR26 (R523Q +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 992784	NM_001379403.1(WDR26):c.1796C>T (p.Thr599Ile)	WDR26 (T483I +2 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 987180	NM_001379403.1(WDR26):c.1910dup (p.Asn637fs)	WDR26 (N521fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 987037	NM_001379403.1(WDR26):c.740_741del (p.Leu247fs)	WDR26 (L147fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987016	NM_001379403.1(WDR26):c.665del (p.Gln222fs)	WDR26 (Q122fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 931463	NM_001379403.1(WDR26):c.1317T>G (p.Ser439Arg)	WDR26 (S439R +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 930867	NM_001379403.1(WDR26):c.1458+1G>A	WDR26	Single nucleotide variant (splice donor variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 488458	NM_001379403.1(WDR26):c.373_374insA (p.Gly125fs)	WDR26 (G25fs +1 more)	Insertion (frameshift variant)	Intellectual disability, seizures, abnormal gait and distinctive facial features	GPathogenic

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Links from Gene

Items: 20