"TAOK2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1557063	NM_016151.4(TAOK2):c.87T>C (p.Ser29=)	TAOK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3058037	NM_016151.4(TAOK2):c.353-3C>T	TAOK2	Single nucleotide variant (intron variant)	TAOK2-related disorder	GLikely benign
Select item 1911751	NM_016151.4(TAOK2):c.450-7C>T	TAOK2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1536201	NM_016151.4(TAOK2):c.624C>G (p.Val208=)	TAOK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1544997	NM_016151.4(TAOK2):c.1000-5C>T	TAOK2	Single nucleotide variant (intron variant)	TAOK2-related disorder +1 more	GLikely benign
Select item 1166701	NM_016151.4(TAOK2):c.1131C>T (p.Asn377=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder +1 more	GBenign/Likely benign
Select item 1575057	NM_016151.4(TAOK2):c.1140GGA[9] (p.Glu390_Glu392dup)	TAOK2	Microsatellite (inframe_insertion)	not provided +1 more	GLikely benign
Select item 773579	NM_016151.4(TAOK2):c.1140GGA[5] (p.Glu392del)	TAOK2 (E392del)	Microsatellite (inframe_deletion)	TAOK2-related disorder +1 more	GLikely benign
Select item 1614519	NM_016151.4(TAOK2):c.1261-6C>T	TAOK2	Single nucleotide variant (intron variant)	TAOK2-related disorder +1 more	GLikely benign
Select item 1424257	NM_016151.4(TAOK2):c.1322C>T (p.Pro441Leu)	TAOK2 (P441L)	Single nucleotide variant (missense variant)	TAOK2-related disorder +1 more	GLikely benign
Select item 1530250	NM_016151.4(TAOK2):c.1323G>A (p.Pro441=)	TAOK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1167693	NM_016151.4(TAOK2):c.1359C>T (p.Ser453=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder +1 more	GBenign
Select item 709295	NM_016151.4(TAOK2):c.1479C>T (p.Ser493=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder +1 more	GBenign
Select item 784335	NM_016151.4(TAOK2):c.1572G>A (p.Leu524=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder +1 more	GBenign
Select item 1575310	NM_016151.4(TAOK2):c.1848G>A (p.Gln616=)	TAOK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1170586	NM_016151.4(TAOK2):c.2607A>G (p.Thr869=)	TAOK2	Single nucleotide variant (synonymous variant +1 more)	TAOK2-related disorder +1 more	GBenign
Select item 3049699	NM_016151.4(TAOK2):c.2736G>C (p.Gly912=)	TAOK2	Single nucleotide variant (synonymous variant +1 more)	TAOK2-related disorder	GLikely benign
Select item 3047716	NM_016151.4(TAOK2):c.3325C>A (p.Arg1109=)	TAOK2	Single nucleotide variant (synonymous variant +1 more)	TAOK2-related disorder	GLikely benign
Select item 2075865	NM_016151.4(TAOK2):c.3328G>A (p.Gly1110Ser)	TAOK2 (G1110S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1099653	NM_016151.4(TAOK2):c.3385G>A (p.Val1129Ile)	TAOK2 (V1016I +1 more)	Single nucleotide variant (missense variant +1 more)	TAOK2-related disorder +2 more	GLikely benign
Select item 1552818	NM_016151.4(TAOK2):c.3488G>A (p.Arg1163Gln)	TAOK2 (R1050Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1167694	NM_016151.4(TAOK2):c.3632G>A (p.Arg1211His)	TAOK2 (R1098H +1 more)	Single nucleotide variant (missense variant +1 more)	TAOK2-related disorder +1 more	GBenign
Select item 710084	NM_016151.4(TAOK2):c.3677G>A (p.Arg1226His)	TAOK2 (R1113H +1 more)	Single nucleotide variant (missense variant +1 more)	TAOK2-related disorder +1 more	GLikely benign
Select item 3052342	NM_004783.4(TAOK2):c.2391G>A (p.Ala797=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder	GLikely benign
Select item 3035101	NM_004783.4(TAOK2):c.2446-6C>T	TAOK2	Single nucleotide variant (intron variant)	TAOK2-related disorder	GLikely benign
Select item 3045933	NM_004783.4(TAOK2):c.2580G>A (p.Arg860=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder	GLikely benign
Select item 3050116	NM_004783.4(TAOK2):c.2724G>A (p.Ala908=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder	GBenign
Select item 3035451	NM_004783.4(TAOK2):c.2775T>C (p.Ala925=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder	GLikely benign
Select item 3050150	NM_004783.4(TAOK2):c.2938A>T (p.Asn980Tyr)	TAOK2 (N980Y)	Single nucleotide variant (missense variant)	TAOK2-related disorder	GLikely benign
Select item 2631329	NM_004783.4(TAOK2):c.3038del (p.Gly1013fs)	TAOK2 (G1013fs)	Deletion (frameshift variant)	TAOK2-related disorder	GUncertain significance
Select item 3050087	NM_004783.4(TAOK2):c.3108C>T (p.Val1036=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder	GBenign
Select item 3031074	NM_004783.4(TAOK2):c.3135C>T (p.Ser1045=)	TAOK2	Single nucleotide variant (synonymous variant)	TAOK2-related disorder	GLikely benign

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Items: 32