ClinVar for Gene (Select 23043) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069092	NM_015028.4(TNIK):c.508+5G>C	TNIK	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3056765	NM_015028.4(TNIK):c.1609-14_1609-10dup	TNIK	Duplication (intron variant)	TNIK-related condition	GBenign
Select item 3051400	NM_015028.4(TNIK):c.2285-8T>C	TNIK	Single nucleotide variant (intron variant)	TNIK-related condition	GLikely benign
Select item 3051398	NM_015028.4(TNIK):c.1722T>C (p.Ser574=)	TNIK	Single nucleotide variant (synonymous variant +1 more)	TNIK-related condition	GLikely benign
Select item 3050630	NM_015028.4(TNIK):c.949+3T>G	TNIK	Single nucleotide variant (intron variant)	TNIK-related condition	GLikely benign
Select item 3045335	NM_015028.4(TNIK):c.181-12_181-10del	TNIK	Deletion (intron variant)	TNIK-related condition	GLikely benign
Select item 3044625	NM_015028.4(TNIK):c.1609-17_1609-10dup	TNIK	Duplication (intron variant)	TNIK-related condition	GLikely benign
Select item 3034548	NM_015028.4(TNIK):c.1896C>T (p.Arg632=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related condition	GLikely benign
Select item 3034468	NM_015028.4(TNIK):c.1609-14_1609-10del	TNIK	Deletion (intron variant)	TNIK-related condition	GLikely benign
Select item 3025256	NM_015028.4(TNIK):c.1881C>T (p.Asn627=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690243	NM_015028.4(TNIK):c.1633C>T (p.Arg545Trp)	TNIK (R516W +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654276	NM_015028.4(TNIK):c.1272C>T (p.Arg424=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related condition +1 more	GLikely benign
Select item 2654275	NM_015028.4(TNIK):c.1818C>T (p.Thr606=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633049	NM_015028.4(TNIK):c.3809G>A (p.Arg1270Gln)	TNIK (R1178Q +7 more)	Single nucleotide variant (missense variant)	TNIK-related condition	GUncertain significance
Select item 2615477	NM_015028.4(TNIK):c.2755G>C (p.Asp919His)	TNIK (D890H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612136	NM_015028.4(TNIK):c.251C>T (p.Thr84Ile)	TNIK (T84I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603324	NM_015028.4(TNIK):c.2574C>G (p.Ser858Arg)	TNIK (S774R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569214	NM_015028.4(TNIK):c.1055G>T (p.Arg352Met)	LOC123230410, TNIK (R352M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542472	NM_015028.4(TNIK):c.2647C>T (p.His883Tyr)	TNIK (H820Y +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538715	NM_015028.4(TNIK):c.2762A>G (p.Asn921Ser)	TNIK (N829S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524783	NM_015028.4(TNIK):c.1442A>G (p.Glu481Gly)	TNIK (E452G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522924	NM_015028.4(TNIK):c.2365C>T (p.Arg789Trp)	TNIK (R789W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521315	NM_015028.4(TNIK):c.2099G>A (p.Gly700Glu)	TNIK (G616E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512280	NM_015028.4(TNIK):c.3428G>A (p.Gly1143Asp)	TNIK (G1106D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508229	NM_015028.4(TNIK):c.866T>C (p.Ile289Thr)	TNIK (I289T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498941	NM_015028.4(TNIK):c.2952G>A (p.Thr984=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2496285	NM_015028.4(TNIK):c.2996C>T (p.Ala999Val)	TNIK (A936V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481830	NM_015028.4(TNIK):c.271A>C (p.Lys91Gln)	TNIK (K91Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461646	NM_015028.4(TNIK):c.1957A>T (p.Ile653Phe)	TNIK (I624F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445959	NM_015028.4(TNIK):c.2215C>T (p.Gln739Ter)	TNIK (Q655* +3 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2381862	NM_015028.4(TNIK):c.2135G>A (p.Arg712Gln)	TNIK (R683Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347062	NM_015028.4(TNIK):c.2575G>A (p.Asp859Asn)	TNIK (D859N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338491	NM_015028.4(TNIK):c.2992G>A (p.Ala998Thr)	TNIK (A906T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309226	NM_015028.4(TNIK):c.2551C>T (p.His851Tyr)	TNIK (H814Y +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293541	NM_015028.4(TNIK):c.1907C>T (p.Pro636Leu)	TNIK (P552L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267085	NM_015028.4(TNIK):c.3794T>C (p.Val1265Ala)	TNIK (V1181A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260423	NM_015028.4(TNIK):c.2479A>G (p.Thr827Ala)	TNIK (T735A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260422	NM_015028.4(TNIK):c.2456C>A (p.Thr819Lys)	TNIK (T727K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258780	NM_015028.4(TNIK):c.2973A>C (p.Glu991Asp)	TNIK (E936D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251856	NM_015028.4(TNIK):c.2641G>A (p.Gly881Arg)	TNIK (G789R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246673	NM_015028.4(TNIK):c.2291G>A (p.Ser764Asn)	TNIK (S709N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246518	NM_015028.4(TNIK):c.4058A>G (p.Asn1353Ser)	TNIK (N1290S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240676	NM_015028.4(TNIK):c.2462G>A (p.Arg821His)	TNIK (R729H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225207	NM_015028.4(TNIK):c.2669C>T (p.Ala890Val)	TNIK (A806V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211895	NM_015028.4(TNIK):c.1558C>G (p.His520Asp)	TNIK (H520D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210555	NM_015028.4(TNIK):c.1203G>C (p.Gln401His)	TNIK, LOC123230410 (Q401H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1690467	NM_015028.4(TNIK):c.1333-5T>C	TNIK	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1342236	NM_015028.4(TNIK):c.63C>T (p.Pro21=)	TNIK	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal recessive 54	GBenign
Select item 1342235	NM_015028.4(TNIK):c.744C>T (p.Asn248=)	TNIK	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 54	GBenign
Select item 1342234	NM_015028.4(TNIK):c.2316C>T (p.Leu772=)	TNIK	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 54	GBenign
Select item 1342233	NM_015028.4(TNIK):c.2331G>C (p.Ala777=)	TNIK	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 54	GBenign
Select item 1341778	NM_015028.4(TNIK):c.2737A>C (p.Lys913Gln)	TNIK (K821Q +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1335546	NM_015028.4(TNIK):c.3843A>G (p.Glu1281=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1229404	NM_015028.4(TNIK):c.1419+19A>G	TNIK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1098862	NM_015028.4(TNIK):c.2682C>T (p.Ser894=)	TNIK	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 54	GBenign
Select item 1098861	NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr)	TNIK (A907T +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 54	GBenign
Select item 1031855	NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu)	TNIK (G818E +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 1031854	NM_015028.4(TNIK):c.2724G>T (p.Thr908=)	TNIK	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 1029340	NM_015028.4(TNIK):c.2869A>G (p.Met957Val)	TNIK (M928V +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 798634	NM_015028.4(TNIK):c.552G>A (p.Arg184=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792822	NM_015028.4(TNIK):c.153A>G (p.Ala51=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related condition +1 more	GBenign
Select item 791959	NM_015028.4(TNIK):c.750G>A (p.Ala250=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790263	NM_015028.4(TNIK):c.1533G>A (p.Arg511=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789939	NM_015028.4(TNIK):c.1609-9G>T	TNIK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 783409	NM_015028.4(TNIK):c.3012C>T (p.Ser1004=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related condition +2 more	GBenign/Likely benign
Select item 769283	NM_015028.4(TNIK):c.3449-7A>T	TNIK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 760206	NM_015028.4(TNIK):c.1396C>T (p.Leu466=)	TNIK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751002	NM_015028.4(TNIK):c.1005A>G (p.Ser335=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750611	NM_015028.4(TNIK):c.2724G>A (p.Thr908=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747587	NM_015028.4(TNIK):c.3525G>A (p.Pro1175=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related condition +1 more	GBenign/Likely benign
Select item 747501	NM_015028.4(TNIK):c.2559G>A (p.Gly853=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747130	NM_015028.4(TNIK):c.3280C>T (p.Leu1094=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743996	NM_015028.4(TNIK):c.1312A>C (p.Arg438=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741952	NM_015028.4(TNIK):c.1167C>T (p.Ala389=)	TNIK, LOC123230410	Single nucleotide variant (synonymous variant)	TNIK-related condition +1 more	GLikely benign
Select item 740304	NM_015028.4(TNIK):c.2025A>G (p.Arg675=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737750	NM_015028.4(TNIK):c.3834A>G (p.Gln1278=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737099	NM_015028.4(TNIK):c.2994C>T (p.Ala998=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736623	NM_015028.4(TNIK):c.418-10A>G	TNIK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 734166	NM_015028.4(TNIK):c.3225G>A (p.Gly1075=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727720	NM_015028.4(TNIK):c.123+10T>C	TNIK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 726226	NM_015028.4(TNIK):c.949+8G>A	TNIK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 721291	NM_015028.4(TNIK):c.2772T>A (p.Ala924=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709853	NM_015028.4(TNIK):c.2720A>C (p.Glu907Ala)	TNIK (E852A +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 446077	NM_015028.4(TNIK):c.124-18A>G	TNIK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445516	NM_015028.4(TNIK):c.417+11A>C	TNIK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 377187	NM_015028.4(TNIK):c.3707G>A (p.Gly1236Asp)	TNIK (G1144D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 243022	NM_015028.4(TNIK):c.538C>T (p.Arg180Ter)	TNIK (R180*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 54	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic

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