ClinVar for MedGen (Select 1794214) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3251938	NM_020791.4(TAOK1):c.1850del (p.Arg617fs)	TAOK1 (R617fs)	Deletion (frameshift variant +1 more)	Developmental delay with or without intellectual impairment or behavioral abnormalities	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 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 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	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 3027302	NM_020791.4(TAOK1):c.1837C>G (p.Leu613Val)	TAOK1 (L613V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
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 2506558	GRCh37/hg19 17q11.2(chr17:27834915-27870040)	TAOK1	Copy number loss	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
Select item 2502371	NM_020791.4(TAOK1):c.2578C>T (p.Arg860Cys)	TAOK1 (R712C +1 more)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2502349	NM_020791.4(TAOK1):c.1916dup (p.Asn639fs)	TAOK1 (N639fs)	Duplication (frameshift variant +1 more)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
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 2436952	NM_020791.4(TAOK1):c.2431C>G (p.Leu811Val)	TAOK1 (L663V +1 more)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	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 1802146	NM_020791.4(TAOK1):c.1575+1G>A	TAOK1	Single nucleotide variant (splice donor variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
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 1709773	NM_020791.4(TAOK1):c.2716G>A (p.Gly906Arg)	TAOK1 (G758R +1 more)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 1707512	NM_020791.4:c.(832+1_833-1)_(1575+1_1576-1)del	TAOK1	Deletion	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 1703076	NM_020791.4(TAOK1):c.*3451T>A	TAOK1	Single nucleotide variant (3 prime UTR variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	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 1333717	NM_020791.4(TAOK1):c.2203del (p.Arg735fs)	TAOK1 (R587fs +1 more)	Deletion (frameshift variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
Select item 1333401	NM_020791.4(TAOK1):c.2092C>T (p.Arg698Ter)	TAOK1 (R698*)	Single nucleotide variant (nonsense +1 more)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GLikely pathogenic
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 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 1300172	NM_020791.4(TAOK1):c.1643T>C (p.Leu548Pro)	TAOK1 (L548P)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GPathogenic
Select item 1300170	NM_020791.4(TAOK1):c.2366_2367insC (p.Leu790fs)	TAOK1 (L642fs +1 more)	Insertion (frameshift variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GPathogenic
Select item 1184341	NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter)	TAOK1 (R709*)	Single nucleotide variant (nonsense +1 more)	See cases +2 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

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Items: 31