PRDM12 — 278 ClinVar variants
All ClinVar germline PRDM12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
10 Pathogenic · 5 Likely pathogenic · 9 Conflicting · 18 Benign · 6 Benign/Likely benign · 97 Likely benign · 133 Uncertain significance
Full PRDM12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PRDM12 p.Met262Arg
Pathogenic
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PRDM12 p.Cys248Gly
Conflicting
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ser327Thr
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PRDM12 p.Ala332Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Arg147His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Asn134Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Asn141Ser
Uncertain significance
Multiple submitters
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Asn207Ser
Uncertain significance
Multiple submitters
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Asn43Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Asn43Ser
Uncertain significance
Multiple submitters
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Glu228Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Gly181Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.His333Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.His341Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.His343Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Ile180Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Leu347Pro
Uncertain significance
Multiple submitters
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Leu6Ile
Uncertain significance
Multiple submitters
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Met191Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Pro345His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Ser183Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Ser58Thr
Uncertain significance
Multiple submitters
congenital insensitivity to pain-hypohidrosis syndrome
- PRDM12 p.Ala10Val Uncertain significance Single submitter
-
PRDM12 p.Ala167Thr
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ala329Val
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ala336Val
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ala346Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Ala348Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Ala356Val
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ala359Val
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Arg158Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PRDM12 p.Arg263Ser Uncertain significance Single submitter
-
PRDM12 p.Arg297Leu
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Arg322Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Asn174Lys
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Asp221Ala
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Cys166Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Gln305Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PRDM12 p.Gln331Arg Uncertain significance Single submitter
-
PRDM12 p.Glu172Gly
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Glu219Lys
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Glu26Asp
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Gly16Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Gly211Glu
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Gly214Ser
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Gly217Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Gly21Glu
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Gly295Asp
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
- PRDM12 p.His265Gln Uncertain significance Single submitter
-
PRDM12 p.His265Pro
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.His289Arg
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.His317Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.His333Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.His341Gln
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ile189Thr
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Leu11Met
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Leu330Pro
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Leu337Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Leu347Val
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Leu362Gln
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Leu6Phe
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Lys14Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Lys223Gln
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
- PRDM12 p.Lys53Arg Uncertain significance Single submitter
-
PRDM12 p.Lys53Asn
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Met365Ile
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Met365Val
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Pro20Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Pro20Gln
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Pro20Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PRDM12 p.Pro270Ser Uncertain significance Single submitter
-
PRDM12 p.Pro325Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Pro326Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Pro335Thr
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Pro338His
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Pro338Ser
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Pro345Ala
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Pro345Leu
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ser159Asn
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ser256Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Ser320Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Ser327Gly
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ser334Leu
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Ser54Asn
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Thr145Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Thr145Pro
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Thr328Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Thr328Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Thr328Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Thr61Ile
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
- PRDM12 p.Tyr186Cys Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
-
PRDM12 p.Arg158Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Asn277Lys
Uncertain significance
Multiple submitters
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Glu142Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Gly16Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRDM12 p.Ala188Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Ala350Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PRDM12 p.Arg259Gly Uncertain significance Single submitter
-
PRDM12 p.Arg263His
Conflicting
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Arg279Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Arg40Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Gln318Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Glu75Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Gly144Ala
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Gly203Arg
Conflicting
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Gly3Val
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Lys319Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Lys319Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Lys60Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Met243Ile
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
-
PRDM12 p.Met262Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Phe36Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRDM12 p.Pro7Leu
Uncertain significance
Single submitter
congenital insensitivity to pain-hypohidrosis syndrome
- PRDM12 p.Val246Leu Uncertain significance Single submitter
-
PRDM12 p.Asp31Tyr
Pathogenic
No assertion criteria
congenital insensitivity to pain-hypohidrosis syndrome
All PRDM12 variants
Pathogenic 10
- c.224-1G>A Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Glu172Asp Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Glu172Ter Single submitter Inborn genetic diseases
- p.Ile189fs Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Met262Arg Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Pro194fs Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Val44fs Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.1041CGC[(15_? No assertion criteria congenital insensitivity to pain-hypohidrosis syndrome
- p.Asp31Tyr No assertion criteria congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.His289Leu No assertion criteria congenital insensitivity to pain-hypohidrosis syndrome
Likely pathogenic 5
- p.Ala152Asp Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala354_Ala359dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Lys60Ter Single submitter PRDM12-related disorder
- p.Phe271Val Single submitter
- p.Trp201fs Single submitter
Conflicting classifications of pathogenicity 9
- p.341HA[3] Single submitter Inborn genetic diseases
- p.Ala356_Ala359dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala357_Ala359dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala359del Single submitter Inborn genetic diseases
- p.Arg168His Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Arg263His Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Cys248Gly Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Gly203Arg Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ser327Thr Single submitter Inborn genetic diseases ⚠
Benign 18
- c.224-85C>T Multiple submitters
- c.570+1GT[9] Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- c.682+162C>T Multiple submitters
- c.682+38A>G Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- c.*49C>T Multiple submitters
- c.*52C>G Multiple submitters
- c.*66G>A Multiple submitters
- p.Ala357_Ala359del Multiple submitters Inborn genetic diseases
- p.Pro216= Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro326= Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- c.223+244C>A Single submitter
- c.570+280G>T Single submitter
- c.570+281A>T Single submitter
- c.682+19dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.683-200del Single submitter
- p.Ala358_Ala359insArg Single submitter
- p.Ala359dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Leu347_Ala348insArg Single submitter
Benign/Likely benign 6
- c.570+1GT[7] Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala354_Ala359del Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala355_Ala359del Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala358_Ala359del Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala358_Ala359dup Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Thr285= Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
Likely benign 97
- c.224-37C>T Multiple submitters
- p.Ala237= Multiple submitters Inborn genetic diseases
- p.Ala332Glu Multiple submitters Inborn genetic diseases
- p.Ala355= Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala356_Ala359del Multiple submitters Inborn genetic diseases
- p.Glu142= Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ile150= Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ile180= Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ser73= Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Tyr202= Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- c.223+170C>T Single submitter
- c.223+18A>G Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.223+9A>G Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.224-14C>T Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.224-15G>T Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.224-254C>T Single submitter
- c.415-12A>G Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.415-13C>A Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.415-15T>G Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.415-176T>G Single submitter
- c.415-200C>A Single submitter
- c.415-20C>T Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.415-279C>G Single submitter
- c.570+17G>T Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.570+1GT[10] Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.570+1GT[3] Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.571-11C>T Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.571-14C>T Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.571-15C>T Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.571-36G>A Single submitter
- c.682+103G>A Single submitter
- c.682+10C>A Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.682+10C>T Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.682+14A>G Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.682+18G>A Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.682+8T>A Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.682+8T>C Single submitter
- c.683-18G>C Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- c.683-294T>C Single submitter
- c.*51C>T Single submitter
- p.Ala19= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala23= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala25= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala329= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala332= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala344= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala353fs Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala354= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala359= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala69= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Arg315= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Asn169= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Asn257= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Asp221= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Asp31= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Cys245= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Cys248= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Gln331= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Gln48= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Glu176= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Glu51= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Glu66= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Gly16= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Gly46= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.His157= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.His265= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.His56= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ile189= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ile192= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Leu198= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Leu218= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Leu24= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Leu286= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Leu337= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Leu362= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro213= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro232= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro270= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro325= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro335= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro338= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro340= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro345= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro59= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ser283= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ser334= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ser71= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Thr145= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Thr294= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Thr328Ala Single submitter Inborn genetic diseases
- p.Thr61= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Thr64= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Tyr299= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Val139= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Val246= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Val27= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Val44= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
Uncertain significance 133
- p.Ala332Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala339_Pro340insHisSerProAlaLeuProAla Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala348_Ala349insThr Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala353_Ala359del Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala355_Ala359dup Multiple submitters hereditary sensory and autonomic neuropathy
- p.Arg147Cys Multiple submitters Inborn genetic diseases
- p.Arg147His Multiple submitters Inborn genetic diseases ⚠
- p.Arg158Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn134Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn141Ser Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Asn207Ser Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Asn277Lys Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Asn43Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn43Ser Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Glu142Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu170Lys Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome
- p.Glu228Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly16Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly181Ser Multiple submitters Inborn genetic diseases ⚠
- p.His333Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His341Pro Multiple submitters Inborn genetic diseases ⚠
- p.His343Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ile180Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu347Pro Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Leu6Ile Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Met191Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met1Lys Multiple submitters Inborn genetic diseases
- p.Met2Ile Multiple submitters Inborn genetic diseases
- p.Pro345His Multiple submitters Inborn genetic diseases ⚠
- p.Ser183Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser58Thr Multiple submitters congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ala10Val Single submitter ⚠
- p.Ala167Thr Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ala188Thr Single submitter Inborn genetic diseases ⚠
- p.Ala329fs Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala329Val Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ala336Val Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ala346Gly Single submitter Inborn genetic diseases ⚠
- p.Ala348Thr Single submitter Inborn genetic diseases ⚠
- p.Ala349_Ala350insAspAlaAla Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala350Thr Single submitter Inborn genetic diseases ⚠
- p.Ala353_Ala359dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala356Val Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ala359_His360insAla Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala359_His360insSer Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ala359Val Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Arg158Gln Single submitter Inborn genetic diseases ⚠
- p.Arg259Gly Single submitter ⚠
- p.Arg263Ser Single submitter ⚠
- p.Arg279Gly Single submitter Inborn genetic diseases ⚠
- p.Arg297Leu Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Arg322Gln Single submitter Inborn genetic diseases ⚠
- p.Arg40Cys Single submitter Inborn genetic diseases ⚠
- p.Asn174Lys Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Asp221Ala Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Cys166Arg Single submitter Inborn genetic diseases ⚠
- p.Cys273Ter Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Gln305Leu Single submitter Inborn genetic diseases ⚠
- p.Gln318Leu Single submitter Inborn genetic diseases ⚠
- p.Gln331_Leu337dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Gln331Arg Single submitter ⚠
- p.Glu172Gly Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Glu219Lys Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Glu26Asp Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Glu75Lys Single submitter Inborn genetic diseases ⚠
- p.Gly144Ala Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Gly144Ser Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Gly16Ala Single submitter Inborn genetic diseases ⚠
- p.Gly211Glu Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Gly214Ser Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Gly214Val Single submitter Inborn genetic diseases
- p.Gly217Arg Single submitter Inborn genetic diseases ⚠
- p.Gly21Glu Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Gly295Asp Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Gly3Val Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.His227= Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.His265Gln Single submitter ⚠
- p.His265Pro Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.His289Arg Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.His317Leu Single submitter Inborn genetic diseases ⚠
- p.His333_Ala339dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.His333Gln Single submitter Inborn genetic diseases ⚠
- p.His341Gln Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ile189Thr Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Leu11Met Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Leu330Pro Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Leu337Gln Single submitter Inborn genetic diseases ⚠
- p.Leu347del Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Leu347Val Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Leu362Gln Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Leu6Phe Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Lys14Gln Single submitter Inborn genetic diseases ⚠
- p.Lys223Gln Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Lys319Glu Single submitter Inborn genetic diseases ⚠
- p.Lys319Met Single submitter Inborn genetic diseases ⚠
- p.Lys53Arg Single submitter ⚠
- p.Lys53Asn Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Lys60Asn Single submitter Inborn genetic diseases ⚠
- p.Met1Thr Single submitter Inborn genetic diseases
- p.Met243Ile Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Met262Ile Single submitter Inborn genetic diseases ⚠
- p.Met365Ile Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Met365Val Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Phe36Ser Single submitter Inborn genetic diseases ⚠
- p.Pro20Arg Single submitter Inborn genetic diseases ⚠
- p.Pro20Gln Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Pro20Ser Single submitter Inborn genetic diseases ⚠
- p.Pro270Ser Single submitter ⚠
- p.Pro325Leu Single submitter Inborn genetic diseases ⚠
- p.Pro326Ala Single submitter Inborn genetic diseases ⚠
- p.Pro335Thr Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Pro338His Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Pro338Ser Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Pro345_Ala346dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro345_Ala348dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Pro345Ala Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Pro345Leu Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Pro7Leu Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ser159Asn Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ser256_Arg263dup Single submitter congenital insensitivity to pain-hypohidrosis syndrome
- p.Ser256Gly Single submitter Inborn genetic diseases ⚠
- p.Ser320Gly Single submitter Inborn genetic diseases ⚠
- p.Ser327Gly Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ser334Leu Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Ser54Asn Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Thr145Met Single submitter Inborn genetic diseases ⚠
- p.Thr145Pro Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Thr328Ile Single submitter Inborn genetic diseases ⚠
- p.Thr328Pro Single submitter Inborn genetic diseases ⚠
- p.Thr328Ser Single submitter Inborn genetic diseases ⚠
- p.Thr61Ile Single submitter congenital insensitivity to pain-hypohidrosis syndrome ⚠
- p.Tyr186Cys Single submitter ⚠
- p.Val246Leu Single submitter ⚠