57551[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 1712256	NM_020791.4(TAOK1):c.18_19del (p.Arg6fs)	TAOK1 (R6fs)	Microsatellite (frameshift variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GPathogenic
Select item 2647609	NM_020791.4(TAOK1):c.30G>A (p.Leu10=)	TAOK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3025516	NM_020791.4(TAOK1):c.57C>T (p.Phe19=)	TAOK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338011	NM_020791.4(TAOK1):c.132+2dup	TAOK1	Duplication (splice donor variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 1328968	NM_020791.4(TAOK1):c.132+3_132+6del	TAOK1	Deletion (splice donor variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
Select item 2579186	GRCh38/hg38 17q11.2(chr17:29461486-29495582)x1	TAOK1	Copy number loss	Developmental delay with or without intellectual impairment or behavioral abnormalities	GPathogenic
Select item 2430486	NM_020791.4(TAOK1):c.136C>T (p.Arg46Ter)	TAOK1 (R46*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2478099	NM_020791.4(TAOK1):c.143T>C (p.Val48Ala)	TAOK1 (V48A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330238	NM_020791.4(TAOK1):c.145C>T (p.Arg49Cys)	TAOK1 (R49C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704161	NM_020791.4(TAOK1):c.153T>G (p.Asn51Lys)	TAOK1 (N51K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647610	NM_020791.4(TAOK1):c.162G>A (p.Val54=)	TAOK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675664	NM_020791.4(TAOK1):c.163G>A (p.Ala55Thr)	TAOK1 (A55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704107	NM_020791.4(TAOK1):c.166A>T (p.Ile56Phe)	TAOK1 (I56F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334496	NM_020791.4(TAOK1):c.169A>C (p.Lys57Gln)	TAOK1 (K57Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584442	NM_020791.4(TAOK1):c.204+1G>A	TAOK1	Single nucleotide variant (splice donor variant)	TAOK1-related disorder	GPathogenic
Select item 3236818	NM_020791.4(TAOK1):c.205-2A>G	TAOK1	Single nucleotide variant (splice acceptor variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
Select item 1701831	NM_020791.4(TAOK1):c.210G>A (p.Trp70Ter)	TAOK1 (W70*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 1333311	NM_020791.4(TAOK1):c.223A>G (p.Lys75Glu)	TAOK1 (K75E)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 1805844	NM_020791.4(TAOK1):c.227A>C (p.Glu76Ala)	TAOK1 (E76A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1984249	NM_020791.4(TAOK1):c.233A>G (p.Lys78Arg)	TAOK1 (K78R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801862	NM_020791.4(TAOK1):c.247A>G (p.Ile83Val)	TAOK1 (I83V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805704	NM_020791.4(TAOK1):c.289C>T (p.Arg97Cys)	TAOK1 (R97C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3056695	NM_020791.4(TAOK1):c.300A>G (p.Thr100=)	TAOK1	Single nucleotide variant (synonymous variant)	TAOK1-related disorder	GBenign
Select item 3369765	NM_020791.4(TAOK1):c.307C>T (p.Leu103Phe)	TAOK1 (L103F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982831	NM_020791.4(TAOK1):c.332C>T (p.Ser111Phe)	TAOK1 (S111F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3173782	NM_020791.4(TAOK1):c.350A>G (p.Glu117Gly)	TAOK1 (E117G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066124	NM_020791.4(TAOK1):c.379G>A (p.Glu127Lys)	TAOK1 (E127K)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 3342424	NM_020791.4(TAOK1):c.426dup (p.His143fs)	TAOK1 (H143fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 985562	NM_020791.4(TAOK1):c.449G>T (p.Arg150Ile)	TAOK1 (R150I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3369777	NM_020791.4(TAOK1):c.451G>T (p.Asp151Tyr)	TAOK1 (D151Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492953	NM_020791.4(TAOK1):c.451G>A (p.Asp151Asn)	TAOK1 (D151N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1710367	NM_020791.4(TAOK1):c.451G>C (p.Asp151His)	TAOK1 (D151H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365476	NM_020791.4(TAOK1):c.467A>G (p.Asn156Ser)	TAOK1 (N156S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059352	NM_020791.4(TAOK1):c.480A>G (p.Thr160=)	TAOK1	Single nucleotide variant (synonymous variant)	TAOK1-related disorder	GBenign
Select item 3369652	NM_020791.4(TAOK1):c.492G>C (p.Gln164His)	TAOK1 (Q164H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695805	NM_020791.4(TAOK1):c.493G>A (p.Val165Met)	TAOK1 (V165M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176048	NM_020791.4(TAOK1):c.519T>C (p.Ala173=)	TAOK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634770	NM_020791.4(TAOK1):c.527C>T (p.Ala176Val)	TAOK1 (A176V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985700	NM_020791.4(TAOK1):c.542C>T (p.Ser181Phe)	TAOK1 (S181F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066463	NM_020791.4(TAOK1):c.557C>T (p.Pro186Leu)	TAOK1 (P186L)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 1172612	NM_020791.4(TAOK1):c.589A>C (p.Met197Leu)	TAOK1 (M197L)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GLikely pathogenic
Select item 1701315	NM_020791.4(TAOK1):c.619G>A (p.Asp207Asn)	TAOK1 (D207N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1311193	NM_020791.4(TAOK1):c.620A>T (p.Asp207Val)	TAOK1 (D207V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686248	NM_020791.4(TAOK1):c.626G>A (p.Trp209Ter)	TAOK1 (W209*)	Single nucleotide variant (nonsense)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GPathogenic
Select item 2501342	NM_020791.4(TAOK1):c.644G>A (p.Cys215Tyr)	TAOK1 (C215Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692584	NM_020791.4(TAOK1):c.653T>C (p.Leu218Pro)	TAOK1 (L218P)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
Select item 3031701	NM_020791.4(TAOK1):c.655_655+1delinsT	TAOK1	Indel (splice donor variant)	TAOK1-related disorder	GLikely pathogenic
Select item 2647611	NM_020791.4(TAOK1):c.655+6C>T	TAOK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2443325	NM_020791.4(TAOK1):c.658G>T (p.Glu220Ter)	TAOK1 (E220*)	Single nucleotide variant (nonsense)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
Select item 777157	NM_020791.4(TAOK1):c.660A>G (p.Glu220=)	TAOK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1312091	NM_020791.4(TAOK1):c.691A>G (p.Met231Val)	TAOK1 (M231V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692505	NM_020791.4(TAOK1):c.692T>A (p.Met231Lys)	TAOK1 (M231K)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
Select item 3236604	NM_020791.4(TAOK1):c.713C>A (p.Ala238Asp)	TAOK1 (A238D)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 3377100	NM_020791.4(TAOK1):c.728del (p.Pro243fs)	TAOK1 (P243fs)	Deletion (frameshift variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GPathogenic
Select item 2518011	NM_020791.4(TAOK1):c.731C>T (p.Thr244Ile)	TAOK1 (T244I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251786	NM_020791.4(TAOK1):c.747A>G (p.Glu249=)	TAOK1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3040196	NM_020791.4(TAOK1):c.749+4A>G	TAOK1	Single nucleotide variant (intron variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2647612	NM_020791.4(TAOK1):c.749+6T>C	TAOK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2504676	NM_020791.4(TAOK1):c.764G>A (p.Arg255His)	TAOK1 (R255H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703433	NM_020791.4(TAOK1):c.806G>A (p.Arg269Gln)	TAOK1 (R269Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275793	NM_020791.4(TAOK1):c.806G>C (p.Arg269Pro)	TAOK1 (R269P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 440989	NM_020791.4(TAOK1):c.825_826insCT (p.Leu276_Lys277insTer)	TAOK1	Insertion (frameshift variant)	not provided	Gnot provided
Select item 2575994	NM_020791.4(TAOK1):c.826T>G (p.Leu276Val)	TAOK1 (L276V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3324380	NM_020791.4(TAOK1):c.847C>G (p.Arg283Gly)	TAOK1 (R283G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173783	NM_020791.4(TAOK1):c.847C>T (p.Arg283Trp)	TAOK1 (R283W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2504913	NM_020791.4(TAOK1):c.853C>T (p.Arg285Cys)	TAOK1 (R285C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3173784	NM_020791.4(TAOK1):c.854G>A (p.Arg285His)	TAOK1 (R285H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1319696	NM_020791.4(TAOK1):c.877C>G (p.Leu293Val)	TAOK1 (L293V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579940	NM_020791.4(TAOK1):c.928C>T (p.Arg310Ter)	TAOK1 (R310*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3173785	NM_020791.4(TAOK1):c.958G>A (p.Ala320Thr)	TAOK1 (A320T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3324379	NM_020791.4(TAOK1):c.962A>G (p.His321Arg)	TAOK1 (H321R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3377984	NM_020791.4(TAOK1):c.999G>A (p.Glu333=)	TAOK1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 717510	NM_020791.4(TAOK1):c.1000-7C>T	TAOK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2297773	NM_020791.4(TAOK1):c.1010A>T (p.His337Leu)	TAOK1 (H337L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501629	NM_020791.4(TAOK1):c.1064C>T (p.Pro355Leu)	TAOK1 (P355L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363609	NM_020791.4(TAOK1):c.1082C>A (p.Ala361Asp)	TAOK1 (A361D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503239	NM_020791.4(TAOK1):c.1101T>A (p.Ser367Arg)	TAOK1 (S367R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362812	NM_020791.4(TAOK1):c.1135A>G (p.Ser379Gly)	TAOK1 (S379G)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
Select item 1675665	NM_020791.4(TAOK1):c.1143A>G (p.Leu381=)	TAOK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059845	NM_020791.4(TAOK1):c.1204-6dup	TAOK1	Duplication (intron variant)	TAOK1-related disorder	GLikely benign
Select item 3059680	NM_020791.4(TAOK1):c.1204-6del	TAOK1	Deletion (intron variant)	TAOK1-related disorder	GBenign
Select item 3038440	NM_020791.4(TAOK1):c.1204-7_1204-6del	TAOK1	Deletion (intron variant)	TAOK1-related disorder	GLikely benign
Select item 3324378	NM_020791.4(TAOK1):c.1208A>G (p.Glu403Gly)	TAOK1 (E403G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490624	NM_020791.4(TAOK1):c.1213A>T (p.Asn405Tyr)	TAOK1 (N405Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329510	NM_020791.4(TAOK1):c.1256C>A (p.Pro419Gln)	TAOK1 (P419Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804066	NM_020791.4(TAOK1):c.1263_1264dup (p.Pro422fs)	TAOK1 (P422fs)	Microsatellite (frameshift variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
Select item 3173775	NM_020791.4(TAOK1):c.1280G>A (p.Arg427His)	TAOK1 (R427H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2629754	NM_020791.4(TAOK1):c.1289C>T (p.Ser430Leu)	TAOK1 (S430L)	Single nucleotide variant (missense variant)	TAOK1-related disorder	GUncertain significance
Select item 3049147	NM_020791.4(TAOK1):c.1298G>A (p.Arg433His)	TAOK1 (R433H)	Single nucleotide variant (missense variant)	TAOK1-related disorder	GLikely benign
Select item 1299338	NM_020791.4(TAOK1):c.1303C>T (p.Arg435Ter)	TAOK1 (R435*)	Single nucleotide variant (nonsense)	Global developmental delay +5 more	GPathogenic/Likely pathogenic
Select item 1307834	NM_020791.4(TAOK1):c.1324C>T (p.Arg442Trp)	TAOK1 (R442W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1328889	NM_020791.4(TAOK1):c.1371C>G (p.Asp457Glu)	TAOK1 (D457E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3173777	NM_020791.4(TAOK1):c.1390dup (p.Met464fs)	TAOK1 (M464fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2632425	NM_020791.4(TAOK1):c.1414C>T (p.Arg472Ter)	TAOK1 (R472*)	Single nucleotide variant (nonsense)	TAOK1-related disorder	GLikely pathogenic
Select item 3373514	NM_020791.4(TAOK1):c.1415G>A (p.Arg472Gln)	TAOK1 (R472Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701871	NM_020791.4(TAOK1):c.1436dup (p.Met479fs)	TAOK1 (M479fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1676779	NM_020791.4(TAOK1):c.1477C>T (p.Arg493Cys)	TAOK1 (R493C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3338495	NM_020791.4(TAOK1):c.1525G>A (p.Ala509Thr)	TAOK1 (A509T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059233	NM_020791.4(TAOK1):c.1563C>T (p.Ala521=)	TAOK1	Single nucleotide variant (synonymous variant)	TAOK1-related disorder	GBenign

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