ClinVar for MedGen (Select 1648319) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1701671	NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys)	WDR81 (E832K)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1698908	NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter)	WDR81 (Y1281* +3 more)	Single nucleotide variant (nonsense)	WDR81-related neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1698779	NM_001163809.2(WDR81):c.1366C>T (p.Arg456Trp)	WDR81 (R456W)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies	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 1679614	NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro)	WDR81 (L1593P +3 more)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GUncertain significance
Select item 1252003	NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter)	WDR81 (Y1257* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1185335	NM_001163809.2(WDR81):c.*56A>G	WDR81	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +1 more	GBenign
Select item 1185334	NM_001163809.2(WDR81):c.5506-19C>G	WDR81	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GBenign
Select item 1031892	NM_001163809.2(WDR81):c.487A>G (p.Ser163Gly)	WDR81 (S163G)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies	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 808186	NM_001163809.2(WDR81):c.2051A>C (p.Gln684Pro)	WDR81 (Q684P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 750445	NM_001163809.2(WDR81):c.2304C>T (p.His768=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GLikely benign
Select item 745776	NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GLikely benign
Select item 733380	NM_001163809.2(WDR81):c.1604G>A (p.Arg535His)	WDR81 (R535H)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies +3 more	GLikely benign
Select item 596303	NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu)	WDR81 (V349L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 235691	NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)	WDR81 (A1178T +1 more)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies +3 more	GConflicting classifications of pathogenicity
Select item 191291	NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)	WDR81 (Q1096* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 183290	NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)	WDR81 (G282E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 130746	NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GBenign
Select item 130745	NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GBenign
Select item 130742	NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +1 more	GBenign
Select item 130741	NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GBenign
Select item 130740	NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +1 more	GBenign
Select item 130737	NM_001163809.2(WDR81):c.2739G>A (p.Leu913=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies +1 more	GBenign
Select item 31611	NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)	WDR81 (P856L)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GPathogenic/Likely pathogenic

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Items: 27