ClinVar for OMIM (Select 610185) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366909	LHFPL5, ARG158TRP	LHFPL5	Variation	Autosomal recessive nonsyndromic hearing loss 67	GPathogenic
Select item 3362717	NM_001163809.2(WDR81):c.850_851del (p.Leu284fs)	WDR81 (L284fs)	Deletion (frameshift variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely pathogenic
Select item 3362646	NM_001163809.2(WDR81):c.3503A>G (p.Glu1168Gly)	WDR81 (E1168G +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 3362491	NM_001163809.2(WDR81):c.1285dup (p.Ala429fs)	WDR81 (A429fs)	Duplication (frameshift variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely pathogenic
Select item 3255116	NM_001163809.2(WDR81):c.5672T>C (p.Ile1891Thr)	WDR81 (I1891T +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely pathogenic
Select item 3233622	NM_001163809.2(WDR81):c.2698G>T (p.Glu900Ter)	WDR81 (E900*)	Single nucleotide variant (nonsense +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GPathogenic
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 2627973	NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)	WDR81 (R804*)	Single nucleotide variant (nonsense +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely pathogenic
Select item 2627495	NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)	WDR81 (G579R)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 2500760	NM_001163809.2(WDR81):c.5411G>T (p.Gly1804Val)	WDR81 (G1804V +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely pathogenic
Select item 2441690	NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)	WDR81	Deletion (inframe_deletion +1 more)	Hydrocephalus, congenital, 3, with brain anomalies +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)	Hydrocephalus, congenital, 3, with brain anomalies +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)	Inborn genetic diseases +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)	Hydrocephalus, congenital, 3, with brain anomalies +1 more	GPathogenic/Likely pathogenic
Select item 1696176	NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter)	WDR81 (Y453*)	Duplication (nonsense +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely pathogenic
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)	not provided +2 more	GBenign
Select item 1185334	NM_001163809.2(WDR81):c.5506-19C>G	WDR81	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 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 1031894	NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met)	WDR81 (V660M +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +1 more	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 1031891	NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)	WDR81 (P1285L +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +1 more	GUncertain significance
Select item 1031890	NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg)	WDR81 (Q684R)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +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 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 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 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 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 982857	NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln)	WDR81 (P636Q)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 982855	NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu)	WDR81 (P161L)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 977894	NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr)	WDR81 (M135T +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely benign
Select item 977836	NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)	WDR81 (E723K)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely benign
Select item 808188	NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp)	WDR81 (R388W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 750445	NM_001163809.2(WDR81):c.2304C>T (p.His768=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GLikely benign
Select item 745776	NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=)	WDR81	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 741172	NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	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 732182	NM_001163809.2(WDR81):c.626C>A (p.Pro209His)	WDR81 (P209H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 708421	NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser)	WDR81 (P752S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 684558	NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu)	WDR81 (P634L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 634455	NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser)	WDR81 (P1772S +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GUncertain significance
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 547902	NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr)	WDR81 (A1029T)	Single nucleotide variant (missense variant +2 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 provided +3 more	GConflicting classifications of pathogenicity
Select item 235691	NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)	WDR81 (A1178T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 224836	NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)	WDR81 (R1333* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 191291	NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)	WDR81 (Q1096* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GPathogenic
Select item 183290	NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)	WDR81 (G282E)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely pathogenic
Select item 130746	NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=)	WDR81	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GBenign
Select item 130745	NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=)	WDR81	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GBenign
Select item 130742	NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=)	WDR81	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GBenign
Select item 130741	NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=)	WDR81	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GBenign
Select item 130740	NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=)	WDR81	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GBenign
Select item 130737	NM_001163809.2(WDR81):c.2739G>A (p.Leu913=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 31611	NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)	WDR81 (P856L)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GPathogenic/Likely pathogenic

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Items: 60