Total 26 pathogenic variants reported for Temtamy syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) SNV
Germline		 Chr12:6944122 Pathogenic/Likely pathogenic Temtamy syndrome
Global developmental delay
Abnormal corpus callosum morphology
Microphthalmia, isolated, with coloboma
Seizure
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130935 rs_587776954

20 SubmittersRCV000034852RCV000162118RCV000254835
NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln) SNV
Germline		 Chr12:6944575 Pathogenic Temtamy syndrome No Assertion Criteria Provided
 CA130937 rs_587776955

1 SubmittersRCV000034853
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter) SNV
Germline		 Chr12:6944607 Pathogenic/Likely pathogenic Temtamy syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170711 rs_587777698

4 SubmittersRCV000143978RCV000414658
NM_138425.4(C12orf57):c.86C>T (p.Ala29Val) SNV
Germline		 Chr12:6944509 Conflicting classifications of pathogenicity not specified
Temtamy syndrome
Condition: not provided
C12orf57-related disorder		 Criteria Provided
Conflicting Classifications
 CA205285 rs_139938808

5 SubmittersRCV000192454RCV000545285RCV001788063RCV003927767
NM_138425.4(C12orf57):c.240G>A (p.Lys80=) SNV
Germline		 Chr12:6945781 Conflicting classifications of pathogenicity not specified
Temtamy syndrome		 Criteria Provided
Conflicting Classifications
 CA205092 rs_781825705

2 SubmittersRCV000192338RCV001516657
NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg) SNV
Germline		 Chr12:6945798 Conflicting classifications of pathogenicity not specified
Temtamy syndrome
Condition: not provided
Clear cell carcinoma of kidney
Melanoma
Hepatocellular carcinoma		 Criteria Provided
Conflicting Classifications
 CA207427 rs_139068225

7 SubmittersRCV000193738RCV000532469RCV004692791RCV005892247RCV005892248RCV005892246
NM_138425.4(C12orf57):c.53-2A>G SNV
Germline		 Chr12:6944474 Pathogenic 6 conditions
Temtamy syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA383744288 rs_1114167293

4 SubmittersRCV000491421RCV000985183
NM_138425.4(C12orf57):c.53-3C>T SNV
Germline		 Chr12:6944473 Conflicting classifications of pathogenicity Temtamy syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6421243 rs_191711101

2 SubmittersRCV000557321RCV004800458
NM_138425.4(C12orf57):c.53-1G>A SNV
Germline		 Chr12:6944475 Likely pathogenic Temtamy syndrome Criteria Provided
Single Submitter
 CA232436881 rs_374836404

1 SubmittersRCV000642298
NM_138425.4(C12orf57):c.43C>T (p.Gln15Ter) SNV
Germline		 Chr12:6944164 Pathogenic/Likely pathogenic Condition: not provided
Temtamy syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA383744229 rs_1565574197

2 SubmittersRCV000760547RCV001067030
NM_138425.4(C12orf57):c.52+1G>T SNV
Germline		 Chr12:6944174 Likely pathogenic Temtamy syndrome Criteria Provided
Single Submitter
 CA383744265 rs_782640048

1 SubmittersRCV000819515
NM_138425.4(C12orf57):c.363C>T (p.Gly121=) SNV
Germline		 Chr12:6945904 Conflicting classifications of pathogenicity Temtamy syndrome Criteria Provided
Conflicting Classifications
 CA6421365 rs_782694267

2 SubmittersRCV000977021
NM_138425.4(C12orf57):c.154C>T (p.Gln52Ter) SNV
Germline		 Chr12:6944577 Pathogenic Temtamy syndrome Criteria Provided
Single Submitter
 CA383744598 rs_1555146046

1 SubmittersRCV003087824
NM_138425.4(C12orf57):c.19C>T (p.Gln7Ter) SNV
Germline		 Chr12:6944140 Pathogenic Temtamy syndrome Criteria Provided
Single Submitter
 CA6421174 rs_782502903

1 SubmittersRCV002740276
NM_138425.4(C12orf57):c.52+1G>C SNV
Germline		 Chr12:6944174 Likely pathogenic Temtamy syndrome Criteria Provided
Single Submitter
 CA383744264 rs_782640048

1 SubmittersRCV002801087
NM_138425.4(C12orf57):c.3G>A (p.Met1Ile) SNV
Germline		 Chr12:6944124 Pathogenic Temtamy syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA232436455 rs_782784989

2 SubmittersRCV003388703RCV004572962
NM_138425.4(C12orf57):c.2T>G (p.Met1Arg) SNV
Germline		 Chr12:6944123 Pathogenic/Likely pathogenic Temtamy syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005083288
NM_138425.4(C12orf57):c.145A>T (p.Lys49Ter) SNV
Germline		 Chr12:6944568 Pathogenic Temtamy syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006629691