C2750234[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031895	NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys)	WDR81 (R276C)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	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 1029177	NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly)	WDR81 (S358G)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 1029178	NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala)	WDR81 (V386A)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 1030235	NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu)	WDR81 (I492L)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 1033757	NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu)	WDR81 (D650E)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 1031890	NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg)	WDR81 (Q684R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 808186	NM_001163809.2(WDR81):c.2051A>C (p.Gln684Pro)	WDR81 (Q684P)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies +3 more	GConflicting classifications of pathogenicity
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 377255	NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr)	WDR81 (A1039T)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1031891	NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)	WDR81 (P1285L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030237	NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu)	WDR81 (P473L +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 1031893	NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro)	WDR81 (A1750P +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +1 more	GUncertain significance
Select item 984714	NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)	WDR81 (R1779* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1031894	NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met)	WDR81 (V660M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance