Total 25 pathogenic variants reported for LCAT deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000229.2(LCAT):c.508T>C (p.Trp170Arg) SNV
Germline		 Chr16:67942686 Pathogenic LCAT deficiency No Assertion Criteria Provided
 CA116412 rs_267607211

1 SubmittersRCV000003841
NM_000229.2(LCAT):c.951G>A (p.Met317Ile) SNV
Germline		 Chr16:67940276 Pathogenic LCAT deficiency No Assertion Criteria Provided
 CA116414 rs_121908048

1 SubmittersRCV000003842
NM_000229.2(LCAT):c.756C>A (p.Asn252Lys) SNV
Germline		 Chr16:67940471 Pathogenic LCAT deficiency No Assertion Criteria Provided
 CA116417 rs_121908049

1 SubmittersRCV000003844
NM_000229.2(LCAT):c.827T>A (p.Met276Lys) SNV
Germline		 Chr16:67940400 Pathogenic LCAT deficiency No Assertion Criteria Provided
 CA116421 rs_121908054

1 SubmittersRCV000003850
NM_000229.2(LCAT):c.698T>C (p.Leu233Pro) SNV
Germline		 Chr16:67942413 Pathogenic LCAT deficiency No Assertion Criteria Provided
 CA116422 rs_28942087

1 SubmittersRCV000003851
NM_000229.2(LCAT):c.475C>T (p.Arg159Trp) SNV
Germline		 Chr16:67942719 Likely pathogenic LCAT deficiency
Condition: not provided		 Criteria Provided
Single Submitter
 CA116423 rs_28940887

2 SubmittersRCV000003853RCV002512727
NM_000229.2(LCAT):c.1034C>T (p.Thr345Met) SNV
Germline		 Chr16:67940193 Pathogenic LCAT deficiency No Assertion Criteria Provided
 CA116425 rs_28940888

1 SubmittersRCV000003855
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter) SNV
Germline		 Chr16:67942967 Pathogenic LCAT deficiency
Fish-eye disease
Norum disease		 Criteria Provided
Single Submitter
 CA116426 rs_121908055

2 SubmittersRCV000003856RCV002496248
NM_000229.2(LCAT):c.159C>T (p.Pro53=) SNV
Germline		 Chr16:67943208 Conflicting classifications of pathogenicity LCAT deficiency
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8121152 rs_556480808

3 SubmittersRCV000335202RCV002402032RCV002521060
NM_000229.2(LCAT):c.748+13C>G SNV
Germline		 Chr16:67942350 Conflicting classifications of pathogenicity LCAT deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8120989 rs_750086555

2 SubmittersRCV000374532RCV002522886
NM_000229.2(LCAT):c.981A>C (p.Gly327=) SNV
Germline		 Chr16:67940246 Conflicting classifications of pathogenicity LCAT deficiency
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8120922 rs_139453193

3 SubmittersRCV000338613RCV002374539RCV002522885
NM_000229.2(LCAT):c.997G>A (p.Val333Met) SNV
Germline		 Chr16:67940230 Pathogenic LCAT deficiency Criteria Provided
Single Submitter
 rs_776035233

1 SubmittersRCV000782355
NM_000229.2(LCAT):c.1210A>G (p.Met404Val) SNV
Germline		 Chr16:67940017 Pathogenic LCAT deficiency Criteria Provided
Single Submitter
 rs_779114194

1 SubmittersRCV000782356
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) SNV
Germline		 Chr16:67942921 Likely pathogenic LCAT deficiency
Norum disease
Fish-eye disease
Norum disease		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_140068549

3 SubmittersRCV000779196RCV002501012RCV004820865
NM_000229.2(LCAT):c.1173G>A (p.Val391=) SNV
Germline		 Chr16:67940054 Conflicting classifications of pathogenicity LCAT deficiency
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_775419267

2 SubmittersRCV001120750RCV004629458
NM_000229.2(LCAT):c.1113G>A (p.Thr371=) SNV
Germline		 Chr16:67940114 Conflicting classifications of pathogenicity LCAT deficiency
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_368689576

2 SubmittersRCV001120752RCV002436713
NM_000229.2(LCAT):c.861C>T (p.His287=) SNV
Germline		 Chr16:67940366 Conflicting classifications of pathogenicity LCAT deficiency
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_767628388

2 SubmittersRCV001115811RCV002375027
NM_000229.2(LCAT):c.618C>T (p.Leu206=) SNV
Germline		 Chr16:67942493 Conflicting classifications of pathogenicity Cardiovascular phenotype
LCAT deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_372699306

4 SubmittersRCV002355115RCV001115813RCV002556283
NM_000229.2(LCAT):c.597C>T (p.Val199=) SNV
Germline		 Chr16:67942514 Conflicting classifications of pathogenicity LCAT deficiency
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_5922

5 SubmittersRCV001115814RCV001729797RCV002355116
NM_000229.2(LCAT):c.552C>T (p.Leu184=) SNV
Germline		 Chr16:67942559 Conflicting classifications of pathogenicity LCAT deficiency
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_773303978

3 SubmittersRCV001115815RCV002348563RCV003769149
NM_000229.2(LCAT):c.495C>T (p.Ala165=) SNV
Germline		 Chr16:67942699 Conflicting classifications of pathogenicity LCAT deficiency
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_139146229

4 SubmittersRCV001115816RCV002339406RCV002556284
NM_000229.2(LCAT):c.493G>A (p.Ala165Thr) SNV
Germline		 Chr16:67942701 Likely pathogenic LCAT deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004587690