Total 25 pathogenic variants reported for Solitary median maxillary central incisor 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000193.4(SHH):c.331A>T (p.Ile111Phe) SNV
Germline		 Chr7:155806527 Pathogenic Solitary median maxillary central incisor syndrome No Assertion Criteria Provided
 CA119987 rs_104894049

1 SubmittersRCV000009440
NM_000193.4(SHH):c.995T>C (p.Val332Ala) SNV
Germline		 Chr7:155803294 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter
 CA119988 rs_104894052

2 SubmittersRCV000009444
NM_000193.4(SHH):c.383G>A (p.Trp128Ter) SNV
Germline		 Chr7:155806475 Pathogenic Holoprosencephaly 3
Solitary median maxillary central incisor syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA119989 rs_104894053

2 SubmittersRCV000009445RCV000009446RCV000263828
NM_000193.4(SHH):c.592T>C (p.Cys198Arg) SNV
Germline		 Chr7:155803697 Pathogenic/Likely pathogenic Condition: not provided
Solitary median maxillary central incisor syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370146729 rs_1131691989

2 SubmittersRCV000493736RCV005252928
NM_000193.4(SHH):c.1040C>T (p.Pro347Leu) SNV
Germline		 Chr7:155803249 Pathogenic/Likely pathogenic Holoprosencephaly 3
SHH-related disorder
Condition: not provided
Solitary median maxillary central incisor syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370145326 rs_886042458

4 SubmittersRCV000656532RCV003117460RCV004719918RCV005253028
NM_000193.4(SHH):c.592T>A (p.Cys198Ser) SNV
Germline		 Chr7:155803697 Likely pathogenic Solitary median maxillary central incisor syndrome
SHH-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370146730 rs_1131691989

3 SubmittersRCV005254787RCV004554093RCV004719327
NM_000193.4(SHH):c.698T>G (p.Leu233Arg) SNV
Germline		 Chr7:155803591 Conflicting classifications of pathogenicity SHH-related disorder
Solitary median maxillary central incisor syndrome		 Criteria Provided
Conflicting Classifications
 CA370146388 rs_2535894379

2 SubmittersRCV004550743RCV005254783
NM_000193.4(SHH):c.812T>C (p.Leu271Pro) SNV
Germline		 Chr7:155803477 Likely pathogenic Holoprosencephaly 3
Solitary median maxillary central incisor syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370146015 rs_2535893958

2 SubmittersRCV003985191RCV005254894
NM_000193.4(SHH):c.587G>A (p.Gly196Glu) SNV
Germline		 Chr7:155803702 Conflicting classifications of pathogenicity Inborn genetic diseases
Solitary median maxillary central incisor syndrome		 Criteria Provided
Conflicting Classifications
 CA4586970 rs_752650571

2 SubmittersRCV004451035RCV005254899
NM_000193.4(SHH):c.329C>A (p.Ala110Asp) SNV
Germline		 Chr7:155806529 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255088
NM_000193.4(SHH):c.428G>A (p.Gly143Asp) SNV
Germline		 Chr7:155806430 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255089
NM_000193.4(SHH):c.554T>C (p.Val185Ala) SNV
Germline		 Chr7:155806304 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255090
NM_000193.4(SHH):c.154G>A (p.Ala52Thr) SNV
Germline		 Chr7:155811969 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255091
NM_000193.4(SHH):c.157G>A (p.Glu53Lys) SNV
Unknown		 Chr7:155811966 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255092
NM_000193.4(SHH):c.431G>T (p.Arg144Leu) SNV
Germline		 Chr7:155806427 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255093
NM_000193.4(SHH):c.551C>T (p.Ser184Leu) SNV
Germline		 Chr7:155806307 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255094
NM_000193.4(SHH):c.18A>T (p.Arg6Ser) SNV
Germline		 Chr7:155812105 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255099
NM_000193.4(SHH):c.1142G>C (p.Arg381Pro) SNV
Germline		 Chr7:155803147 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255107
NM_000193.4(SHH):c.602G>A (p.Gly201Asp) SNV
Unknown		 Chr7:155803687 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255111
NM_000193.4(SHH):c.701T>C (p.Leu234Pro) SNV
Germline		 Chr7:155803588 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255119
NM_000193.4(SHH):c.980T>C (p.Leu327Pro) SNV
Unknown		 Chr7:155803309 Likely pathogenic Solitary median maxillary central incisor syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255121