Related gene-specific medical variations for Gene (Select 124997) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068097	NM_001163809.2(WDR81):c.4879G>A (p.Val1627Met)	WDR81 (V1627M +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 3064525	NM_001163809.2(WDR81):c.5018G>A (p.Arg1673His)	WDR81 (R1673H +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 2690452	NM_001163809.2(WDR81):c.4591G>A (p.Val1531Met)	WDR81 (V1531M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690451	NM_001163809.2(WDR81):c.2713C>G (p.Leu905Val)	WDR81 (L905V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690450	NM_001163809.2(WDR81):c.1604G>T (p.Arg535Leu)	WDR81 (R535L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2628005	NM_001163809.2(WDR81):c.1772G>A (p.Arg591His)	WDR81 (R591H)	Single nucleotide variant (missense variant +1 more)	Exstrophy-epispadias complex	GUncertain significance
Select item 2441690	NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)	WDR81	Deletion (inframe_deletion +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +1 more	GUncertain significance
Select item 2441660	NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)	WDR81 (R994W)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +1 more	GUncertain significance
Select item 2438602	NM_001163809.2(WDR81):c.2395C>T (p.Arg799Cys)	WDR81 (R799C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438601	NM_001163809.2(WDR81):c.839C>T (p.Ala280Val)	WDR81 (A280V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438600	NM_001163809.2(WDR81):c.2533C>T (p.Leu845=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2438599	NM_001163809.2(WDR81):c.3688C>G (p.Arg1230Gly)	WDR81 (R1230G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438598	NM_001163809.2(WDR81):c.610G>A (p.Glu204Lys)	WDR81 (E204K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438597	NM_001163809.2(WDR81):c.2095C>T (p.Arg699Cys)	WDR81 (R699C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438596	NM_001163809.2(WDR81):c.4801G>T (p.Ala1601Ser)	WDR81 (A1601S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438595	NM_001163809.2(WDR81):c.5368C>T (p.Arg1790Cys)	WDR81 (R1790C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438594	NM_001163809.2(WDR81):c.2426G>A (p.Arg809His)	WDR81 (R809H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438593	NM_001163809.2(WDR81):c.2932G>A (p.Gly978Ser)	WDR81 (G978S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438592	NM_001163809.2(WDR81):c.4020G>A (p.Ala1340=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2438590	NM_001163809.2(WDR81):c.699_700delinsTT (p.Val234Leu)	WDR81 (V234L)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2438589	NM_001163809.2(WDR81):c.5608G>A (p.Asp1870Asn)	WDR81 (D1870N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438588	NM_001163809.2(WDR81):c.5375T>C (p.Leu1792Pro)	WDR81 (L1792P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679615	NM_001163809.2(WDR81):c.5179+6C>T	WDR81	Single nucleotide variant (intron variant)	Hydrocephalus, congenital, 3, with brain anomalies +1 more	GUncertain significance
Select item 974704	NM_001163809.2(WDR81):c.682C>T (p.Pro228Ser)	WDR81 (P228S)	Single nucleotide variant (missense variant +1 more)	Fraser syndrome 3	GUncertain significance
Select item 931323	NM_001163809.2(WDR81):c.4396C>T (p.Arg1466Trp)	WDR81 (R1466W +3 more)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital, 3, with brain anomalies	GUncertain significance
Select item 872063	NM_001163809.2(WDR81):c.1370G>A (p.Arg457His)	WDR81 (R457H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 872062	NM_001163809.2(WDR81):c.1189C>T (p.Arg397Ter)	WDR81 (R397*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 635849	NM_001163809.2(WDR81):c.4668_4669del (p.Gly1557fs)	WDR81 (G1557fs +3 more)	Deletion (frameshift variant)	Microlissencephaly	GPathogenic
Select item 377011	NM_001163809.2(WDR81):c.1543C>T (p.Pro515Ser)	WDR81 (P515S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29