"PreventionGenetics, part of Exact Sciences"[submitter] AND "TNIK"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633049	NM_015028.4(TNIK):c.3809G>A (p.Arg1270Gln)	TNIK (R1178Q +7 more)	Single nucleotide variant (missense variant)	TNIK-related disorder	GUncertain significance
Select item 747587	NM_015028.4(TNIK):c.3525G>A (p.Pro1175=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related disorder +1 more	GBenign/Likely benign
Select item 783409	NM_015028.4(TNIK):c.3012C>T (p.Ser1004=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related disorder +2 more	GBenign/Likely benign
Select item 3051400	NM_015028.4(TNIK):c.2285-8T>C	TNIK	Single nucleotide variant (intron variant)	TNIK-related disorder	GLikely benign
Select item 3034548	NM_015028.4(TNIK):c.1896C>T (p.Arg632=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related disorder	GLikely benign
Select item 3051398	NM_015028.4(TNIK):c.1722T>C (p.Ser574=)	TNIK	Single nucleotide variant (synonymous variant +1 more)	TNIK-related disorder	GLikely benign
Select item 3056765	NM_015028.4(TNIK):c.1609-14_1609-10dup	TNIK	Duplication (intron variant)	TNIK-related disorder	GBenign
Select item 3044625	NM_015028.4(TNIK):c.1609-17_1609-10dup	TNIK	Duplication (intron variant)	TNIK-related disorder	GLikely benign
Select item 3034468	NM_015028.4(TNIK):c.1609-14_1609-10del	TNIK	Deletion (intron variant)	TNIK-related disorder	GLikely benign
Select item 2654276	NM_015028.4(TNIK):c.1272C>T (p.Arg424=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related disorder +1 more	GLikely benign
Select item 741952	NM_015028.4(TNIK):c.1167C>T (p.Ala389=)	TNIK, LOC123230410	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3050630	NM_015028.4(TNIK):c.949+3T>G	TNIK	Single nucleotide variant (intron variant)	TNIK-related disorder	GLikely benign
Select item 3045335	NM_015028.4(TNIK):c.181-12_181-10del	TNIK	Deletion (intron variant)	TNIK-related disorder	GLikely benign
Select item 792822	NM_015028.4(TNIK):c.153A>G (p.Ala51=)	TNIK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign