TNIK — 195 ClinVar variants
All ClinVar germline TNIK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →
1 Pathogenic · 14 Benign · 3 Benign/Likely benign · 55 Likely benign · 122 Uncertain significance
Full TNIK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 105
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TNIK p.Arg914Gln
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 54
-
TNIK p.Asn1353Ser
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 54
-
TNIK p.Gly910Glu
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 54
- TNIK p.Ile653Phe Uncertain significance Multiple submitters
-
TNIK p.Lys913Gln
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 54
- TNIK p.Ala223Thr Uncertain significance Single submitter
- TNIK p.Ala532Val Uncertain significance Single submitter
- TNIK p.Ala607Ser Uncertain significance Single submitter
- TNIK p.Ala607Thr Uncertain significance Single submitter
- TNIK p.Ala890Glu Uncertain significance Single submitter
- TNIK p.Ala890Val Uncertain significance Single submitter
- TNIK p.Ala998Pro Uncertain significance Single submitter
- TNIK p.Ala998Thr Uncertain significance Single submitter
- TNIK p.Ala999Val Uncertain significance Single submitter
- TNIK p.Arg1031Gln Uncertain significance Single submitter
- TNIK p.Arg1086Ser Uncertain significance Single submitter
-
TNIK p.Arg1270Gln
Uncertain significance
Single submitter
TNIK-related disorder
- TNIK p.Arg1305Pro Uncertain significance Single submitter
- TNIK p.Arg252Trp Uncertain significance Single submitter
- TNIK p.Arg432His Uncertain significance Single submitter
- TNIK p.Arg477Leu Uncertain significance Single submitter
- TNIK p.Arg507Gln Uncertain significance Single submitter
- TNIK p.Arg542Lys Uncertain significance Single submitter
- TNIK p.Arg580Gln Uncertain significance Single submitter
- TNIK p.Arg652His Uncertain significance Single submitter
- TNIK p.Arg658Gln Uncertain significance Single submitter
- TNIK p.Arg712Trp Uncertain significance Single submitter
- TNIK p.Arg761Gln Uncertain significance Single submitter
- TNIK p.Arg80Gln Uncertain significance Single submitter
- TNIK p.Arg80Trp Uncertain significance Single submitter
- TNIK p.Arg821His Uncertain significance Single submitter
- TNIK p.Asn1015Ser Uncertain significance Single submitter
- TNIK p.Asn1047Ser Uncertain significance Single submitter
- TNIK p.Asn1084Ser Uncertain significance Single submitter
- TNIK p.Asn921Ser Uncertain significance Single submitter
- TNIK p.Cys234Ser Uncertain significance Single submitter
- TNIK p.Gln723Glu Uncertain significance Single submitter
- TNIK p.Glu267Asp Uncertain significance Single submitter
- TNIK p.Glu481Gly Uncertain significance Single submitter
- TNIK p.Glu782Gln Uncertain significance Single submitter
- TNIK p.Glu837Gly Uncertain significance Single submitter
- TNIK p.Glu991Asp Uncertain significance Single submitter
- TNIK p.Gly1143Asp Uncertain significance Single submitter
- TNIK p.Gly692Ser Uncertain significance Single submitter
- TNIK p.Gly881Arg Uncertain significance Single submitter
- TNIK p.His851Tyr Uncertain significance Single submitter
- TNIK p.His883Tyr Uncertain significance Single submitter
- TNIK p.Ile289Thr Uncertain significance Single submitter
- TNIK p.Ile66Ser Uncertain significance Single submitter
- TNIK p.Ile90Thr Uncertain significance Single submitter
- TNIK p.Leu718Ser Uncertain significance Single submitter
- TNIK p.Leu772Pro Uncertain significance Single submitter
- TNIK p.Lys91Gln Uncertain significance Single submitter
- TNIK p.Met904Arg Uncertain significance Single submitter
-
TNIK p.Met957Val
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 54
- TNIK p.Pro206Ser Uncertain significance Single submitter
- TNIK p.Pro531Ser Uncertain significance Single submitter
- TNIK p.Pro578Ser Uncertain significance Single submitter
- TNIK p.Pro582Ala Uncertain significance Single submitter
- TNIK p.Pro582Ser Uncertain significance Single submitter
- TNIK p.Pro583Leu Uncertain significance Single submitter
- TNIK p.Pro636Ala Uncertain significance Single submitter
- TNIK p.Pro636Leu Uncertain significance Single submitter
- TNIK p.Pro736Ser Uncertain significance Single submitter
- TNIK p.Ser1004Gly Uncertain significance Single submitter
- TNIK p.Ser764Asn Uncertain significance Single submitter
- TNIK p.Ser764Ile Uncertain significance Single submitter
- TNIK p.Thr1003Ser Uncertain significance Single submitter
- TNIK p.Thr47Met Uncertain significance Single submitter
- TNIK p.Thr735Pro Uncertain significance Single submitter
- TNIK p.Thr819Lys Uncertain significance Single submitter
- TNIK p.Thr84Ile Uncertain significance Single submitter
- TNIK p.Thr969Ile Uncertain significance Single submitter
- TNIK p.Thr984Met Uncertain significance Single submitter
- TNIK p.Val1265Ala Uncertain significance Single submitter
- TNIK p.Val1276Met Uncertain significance Single submitter
- TNIK p.Val537Ile Uncertain significance Single submitter
- TNIK p.Val760Ala Uncertain significance Single submitter
- TNIK p.Val950Ala Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
-
TNIK p.Arg545Trp
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 54
-
TNIK p.Arg632Cys
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 54
- TNIK p.Arg290Gln Uncertain significance Single submitter
- TNIK p.Arg410Ser Uncertain significance Single submitter
- TNIK p.Arg411Gln Uncertain significance Single submitter
- TNIK p.Arg424Cys Uncertain significance Single submitter
- TNIK p.Arg540Gln Uncertain significance Single submitter
- TNIK p.Arg632Ser Uncertain significance Single submitter
- TNIK p.Arg712Gly Uncertain significance Single submitter
- TNIK p.Arg789Gly Uncertain significance Single submitter
- TNIK p.Arg789Trp Uncertain significance Single submitter
- TNIK p.Asn544Lys Uncertain significance Single submitter
- TNIK p.Asp1260Asn Uncertain significance Single submitter
- TNIK p.Gln409His Uncertain significance Single submitter
- TNIK p.Gln490Glu Uncertain significance Single submitter
- TNIK p.Glu842Gln Uncertain significance Single submitter
- TNIK p.Gly1236Asp Uncertain significance Single submitter
- TNIK p.His520Asp Uncertain significance Single submitter
- TNIK p.Ile800Thr Uncertain significance Single submitter
- TNIK p.Pro861Thr Uncertain significance Single submitter
- TNIK p.Ser142Asn Uncertain significance Single submitter
- TNIK p.Ser764Arg Uncertain significance Single submitter
- TNIK p.Ser858Arg Uncertain significance Single submitter
- TNIK p.Thr827Ala Uncertain significance Single submitter
- TNIK p.Thr984Lys Uncertain significance Single submitter
- TNIK p.Val1334Ile Uncertain significance Single submitter
All TNIK variants
Pathogenic 1
- p.Arg180Ter Single submitter intellectual disability, autosomal recessive 54
Benign 14
- c.1419+19A>G Multiple submitters intellectual disability, autosomal recessive 54
- c.3449-7A>T Multiple submitters
- p.Ala777= Multiple submitters intellectual disability, autosomal recessive 54
- p.Ala999Thr Multiple submitters intellectual disability, autosomal recessive 54
- p.Asn248= Multiple submitters intellectual disability, autosomal recessive 54
- p.Leu772= Multiple submitters intellectual disability, autosomal recessive 54
- p.Pro21= Multiple submitters intellectual disability, autosomal recessive 54
- p.Ser894= Multiple submitters intellectual disability, autosomal recessive 54
- c.123+10T>C Single submitter
- c.123+22398dup Single submitter
- c.418-10A>G Single submitter
- p.Ala51= Single submitter
- p.Pro1175= Single submitter
- c.1609-14_1609-10dup No assertion criteria TNIK-related disorder
Benign/Likely benign 3
- p.Ala250= Multiple submitters
- p.Gly853= Multiple submitters
- p.Ser1004= Multiple submitters intellectual disability, autosomal recessive 54
Likely benign 55
- c.1609-9G>T Multiple submitters
- p.Ala924= Multiple submitters
- p.Ala998= Multiple submitters
- p.Arg511= Multiple submitters
- p.Arg675= Multiple submitters
- p.Glu907Ala Multiple submitters
- p.Gly1075= Multiple submitters
- c.123+22396_123+22398del Single submitter
- c.124-18A>G Single submitter
- c.1609-11_1609-10dup Single submitter
- c.1609-12_1609-10del Single submitter
- c.1609-12_1609-10dup Single submitter
- c.1609-13_1609-10del Single submitter
- c.1609-14_1609-10del Single submitter
- c.1609-4G>T Single submitter
- c.180+13A>T Single submitter
- c.2120+16G>A Single submitter
- c.2285-8T>C Single submitter
- c.3169+17T>C Single submitter
- c.3448+12G>T Single submitter
- c.417+11A>C Single submitter
- c.639+19G>C Single submitter
- c.949+8G>A Single submitter
- p.Arg1305= Single submitter
- p.Arg184= Single submitter
- p.Arg240= Single submitter
- p.Arg424= Single submitter
- p.Arg438= Single submitter
- p.Arg712= Single submitter
- p.Asn627= Single submitter
- p.Asn872= Single submitter
- p.Gln1278= Single submitter
- p.Glu1281= Single submitter
- p.Glu840Asp Single submitter
- p.Gly1269= Single submitter
- p.Gly220= Single submitter
- p.His520= Single submitter
- p.Ile787= Single submitter
- p.Leu1094= Single submitter
- p.Leu1097= Single submitter
- p.Leu466= Single submitter
- p.Leu619= Single submitter
- p.Leu811= Single submitter
- p.Lys530= Single submitter
- p.Pro781= Single submitter
- p.Ser1338= Single submitter
- p.Ser335= Single submitter
- p.Thr222= Single submitter
- p.Thr606= Single submitter
- p.Thr984= Single submitter
- c.1609-17_1609-10dup No assertion criteria TNIK-related disorder
- c.181-12_181-10del No assertion criteria TNIK-related disorder
- c.949+3T>G No assertion criteria TNIK-related disorder
- p.Arg632= No assertion criteria TNIK-related disorder
- p.Ser574= No assertion criteria TNIK-related disorder
Uncertain significance 122
- p.Arg545Trp Multiple submitters intellectual disability, autosomal recessive 54 ⚠
- p.Arg632Cys Multiple submitters intellectual disability, autosomal recessive 54 ⚠
- p.Arg914Gln Multiple submitters intellectual disability, autosomal recessive 54 ⚠
- p.Asn1353Ser Multiple submitters intellectual disability, autosomal recessive 54 ⚠
- p.Gly910Glu Multiple submitters intellectual disability, autosomal recessive 54 ⚠
- p.Ile653Phe Multiple submitters ⚠
- p.Lys913Gln Multiple submitters intellectual disability, autosomal recessive 54 ⚠
- c.1333-5T>C Single submitter
- c.508+5G>C Single submitter
- c.949+7C>A Single submitter intellectual disability, autosomal recessive 54
- p.Ala223Thr Single submitter ⚠
- p.Ala532Val Single submitter ⚠
- p.Ala607Ser Single submitter ⚠
- p.Ala607Thr Single submitter ⚠
- p.Ala806Thr Single submitter
- p.Ala890Glu Single submitter ⚠
- p.Ala890Val Single submitter ⚠
- p.Ala998Pro Single submitter ⚠
- p.Ala998Thr Single submitter ⚠
- p.Ala999Val Single submitter ⚠
- p.Arg1031Gln Single submitter ⚠
- p.Arg1086Ser Single submitter ⚠
- p.Arg1087Ter Single submitter
- p.Arg1270Gln Single submitter TNIK-related disorder ⚠
- p.Arg1305Pro Single submitter ⚠
- p.Arg252Trp Single submitter ⚠
- p.Arg290Gln Single submitter ⚠
- p.Arg410Ser Single submitter ⚠
- p.Arg411Gln Single submitter ⚠
- p.Arg411Ter Single submitter
- p.Arg424Cys Single submitter ⚠
- p.Arg432Cys Single submitter
- p.Arg432His Single submitter ⚠
- p.Arg477Leu Single submitter ⚠
- p.Arg507Gln Single submitter ⚠
- p.Arg540Gln Single submitter ⚠
- p.Arg542Lys Single submitter ⚠
- p.Arg580Gln Single submitter ⚠
- p.Arg632Ser Single submitter ⚠
- p.Arg652His Single submitter ⚠
- p.Arg658Gln Single submitter ⚠
- p.Arg712Gln Single submitter
- p.Arg712Gly Single submitter ⚠
- p.Arg712Trp Single submitter ⚠
- p.Arg761Gln Single submitter ⚠
- p.Arg789Gly Single submitter ⚠
- p.Arg789Trp Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg80Trp Single submitter ⚠
- p.Arg821His Single submitter ⚠
- p.Asn1015Ser Single submitter ⚠
- p.Asn1047Ser Single submitter ⚠
- p.Asn1084Ser Single submitter ⚠
- p.Asn544Lys Single submitter ⚠
- p.Asn921Ser Single submitter ⚠
- p.Asp1260Asn Single submitter ⚠
- p.Asp859Asn Single submitter
- p.Asp919His Single submitter
- p.Cys234Ser Single submitter ⚠
- p.Gln409His Single submitter ⚠
- p.Gln490Glu Single submitter ⚠
- p.Gln723Glu Single submitter ⚠
- p.Gln739Ter Single submitter
- p.Glu1005Lys Single submitter
- p.Glu1010Gln Single submitter
- p.Glu267Asp Single submitter ⚠
- p.Glu481Gly Single submitter ⚠
- p.Glu782Gln Single submitter ⚠
- p.Glu837Gly Single submitter ⚠
- p.Glu842Gln Single submitter ⚠
- p.Glu991Asp Single submitter ⚠
- p.Gly1143Asp Single submitter ⚠
- p.Gly1236Asp Single submitter ⚠
- p.Gly692Ser Single submitter ⚠
- p.Gly700Glu Single submitter
- p.Gly881Arg Single submitter ⚠
- p.His520Asp Single submitter ⚠
- p.His851Tyr Single submitter ⚠
- p.His883Tyr Single submitter ⚠
- p.Ile289Thr Single submitter ⚠
- p.Ile66Ser Single submitter ⚠
- p.Ile800Thr Single submitter ⚠
- p.Ile90Thr Single submitter ⚠
- p.Leu451fs Single submitter
- p.Leu718Ser Single submitter ⚠
- p.Leu772Pro Single submitter ⚠
- p.Lys91Gln Single submitter ⚠
- p.Met904Arg Single submitter ⚠
- p.Met957Val Single submitter intellectual disability, autosomal recessive 54 ⚠
- p.Pro206Ser Single submitter ⚠
- p.Pro531Ser Single submitter ⚠
- p.Pro578Ser Single submitter ⚠
- p.Pro582Ala Single submitter ⚠
- p.Pro582Ser Single submitter ⚠
- p.Pro583Leu Single submitter ⚠
- p.Pro636Ala Single submitter ⚠
- p.Pro636Leu Single submitter ⚠
- p.Pro736Ser Single submitter ⚠
- p.Pro861Thr Single submitter ⚠
- p.Ser1004Gly Single submitter ⚠
- p.Ser142Asn Single submitter ⚠
- p.Ser764Arg Single submitter ⚠
- p.Ser764Asn Single submitter ⚠
- p.Ser764Ile Single submitter ⚠
- p.Ser832Cys Single submitter
- p.Ser858Arg Single submitter ⚠
- p.Thr1003Ser Single submitter ⚠
- p.Thr47Met Single submitter ⚠
- p.Thr735Pro Single submitter ⚠
- p.Thr819Lys Single submitter ⚠
- p.Thr827Ala Single submitter ⚠
- p.Thr84Ile Single submitter ⚠
- p.Thr908= Single submitter intellectual disability, autosomal recessive 54
- p.Thr969Ile Single submitter ⚠
- p.Thr984Lys Single submitter ⚠
- p.Thr984Met Single submitter ⚠
- p.Val1265Ala Single submitter ⚠
- p.Val1276Met Single submitter ⚠
- p.Val1334Ile Single submitter ⚠
- p.Val537Ile Single submitter ⚠
- p.Val760Ala Single submitter ⚠
- p.Val950Ala Single submitter ⚠