Total 46 pathogenic variants reported for Kindler syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_017671.5(FERMT1):c.385+2T>C SNV
Germline		 Chr20:6115809 Pathogenic Kindler syndrome No Assertion Criteria Provided
 CA408191876 rs_1411462678

1 SubmittersRCV000002832
NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter) SNV
Germline		 Chr20:6107594 Pathogenic Kindler syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA115712 rs_121918292

2 SubmittersRCV000002833RCV000730517
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) SNV
Germline		 Chr20:6107570 Pathogenic Kindler syndrome
Condition: not provided
FERMT1-related disorder		 Criteria Provided
Single Submitter
 CA115714 rs_121918293

6 SubmittersRCV000002836RCV001381403RCV003894788
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter) SNV
Germline		 Chr20:6097619 Pathogenic Kindler syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115716 rs_121918294

4 SubmittersRCV000002837RCV002512685
NM_017671.5(FERMT1):c.1848G>A (p.Trp616Ter) SNV
Unknown		 Chr20:6079448 Likely pathogenic Kindler syndrome No Assertion Criteria Provided
 CA357179 rs_869312731

1 SubmittersRCV000209891
NM_017671.5(FERMT1):c.1198T>C (p.Ser400Pro) SNV
Germline		 Chr20:6089031 Pathogenic Kindler syndrome Criteria Provided
Single Submitter
 CA357195 rs_869312718

1 SubmittersRCV000209936
NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter) SNV
Germline		 Chr20:6097571 Pathogenic Kindler syndrome
Condition: not provided
FERMT1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357163 rs_146180696

4 SubmittersRCV000209869RCV002515570RCV004755812
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) SNV
Germline		 Chr20:6084158 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758082 rs_2232078

5 SubmittersRCV000311451RCV000520612
NM_017671.5(FERMT1):c.780A>G (p.Gln260=) SNV
Germline		 Chr20:6107601 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758355 rs_754424986

2 SubmittersRCV000338551RCV002523172
NM_017671.5(FERMT1):c.1594-6G>A SNV
Germline		 Chr20:6084170 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided
FERMT1-related disorder		 Criteria Provided
Conflicting Classifications
 CA9758084 rs_6053893

3 SubmittersRCV000368430RCV000960313RCV003957747
NM_017671.5(FERMT1):c.1014C>T (p.Ser338=) SNV
Germline		 Chr20:6096977 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758277 rs_138986656

3 SubmittersRCV000316453RCV000884274
NM_017671.5(FERMT1):c.240T>C (p.Tyr80=) SNV
Germline		 Chr20:6115956 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758511 rs_550863008

2 SubmittersRCV000356334RCV002057749
NM_017671.5(FERMT1):c.1944C>T (p.Gly648=) SNV
Germline		 Chr20:6077263 Conflicting classifications of pathogenicity FERMT1-related disorder
Condition: not provided
Kindler syndrome		 Criteria Provided
Conflicting Classifications
 CA9757994 rs_570732725

3 SubmittersRCV003957746RCV002057746RCV000377637
NM_017671.5(FERMT1):c.834C>T (p.Phe278=) SNV
Germline		 Chr20:6107547 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758346 rs_775613961

2 SubmittersRCV000281098RCV002057747
NM_017671.5(FERMT1):c.1371+4A>G SNV
Germline		 Chr20:6087773 Pathogenic Condition: not provided
Kindler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620946 rs_1064793979

2 SubmittersRCV000479041RCV001352795
NM_017671.5(FERMT1):c.1992C>T (p.Leu664=) SNV
Germline		 Chr20:6077215 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9757988 rs_184046854

2 SubmittersRCV001143082RCV002070720
NM_017671.5(FERMT1):c.1599C>T (p.Ala533=) SNV
Germline		 Chr20:6084159 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758083 rs_774007627

2 SubmittersRCV001138761RCV001506876
NM_017671.5(FERMT1):c.978G>A (p.Ser326=) SNV
Germline		 Chr20:6097013 Conflicting classifications of pathogenicity Kindler syndrome
FERMT1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758281 rs_201694674

3 SubmittersRCV001143191RCV003953523RCV002070722
NM_017671.5(FERMT1):c.279G>A (p.Gln93=) SNV
Germline		 Chr20:6115917 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758500 rs_150528781

2 SubmittersRCV001138875RCV002070636
NM_017671.5(FERMT1):c.533-14C>T SNV
Germline		 Chr20:6110525 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758430 rs_749711628

2 SubmittersRCV001138872RCV002070635
NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter) SNV
Germline		 Chr20:6085281 Pathogenic Kindler syndrome Criteria Provided
Single Submitter
 CA408179330 rs_1982142302

1 SubmittersRCV001352796
NM_017671.5(FERMT1):c.1264+1G>A SNV
Germline		 Chr20:6088964 Pathogenic Kindler syndrome Criteria Provided
Single Submitter
 CA408180819 rs_1982268239

1 SubmittersRCV001352794
NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter) SNV
Germline		 Chr20:6115855 Pathogenic Kindler syndrome Criteria Provided
Single Submitter
 CA408192086 rs_1983080839

1 SubmittersRCV001352793
NM_017671.5(FERMT1):c.994C>T (p.Gln332Ter) SNV
Germline		 Chr20:6096997 Pathogenic Kindler syndrome Criteria Provided
Single Submitter
 CA408182653 rs_2123118335

1 SubmittersRCV001526461
NM_017671.5(FERMT1):c.328C>T (p.Arg110Ter) SNV
Germline		 Chr20:6115868 Pathogenic Kindler syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9758489 rs_765716291

3 SubmittersRCV001783270RCV001885161
NM_017671.5(FERMT1):c.1861-1G>A SNV
Germline		 Chr20:6077347 Pathogenic Kindler syndrome Criteria Provided
Single Submitter
 CA9758003 rs_779915885

1 SubmittersRCV001799567
NM_017671.5(FERMT1):c.1718+2T>C SNV
Germline		 Chr20:6084038 Conflicting classifications of pathogenicity Kindler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9758058 rs_760256639

4 SubmittersRCV001808218RCV002541468
NM_017671.5(FERMT1):c.1792G>A (p.Gly598Arg) SNV
Germline		 Chr20:6079504 Conflicting classifications of pathogenicity Condition: not provided
Kindler syndrome		 Criteria Provided
Conflicting Classifications
 CA9758032 rs_142825013

2 SubmittersRCV001877113RCV004720328
NM_017671.5(FERMT1):c.35G>A (p.Trp12Ter) SNV
Unknown		 Chr20:6119520 Pathogenic Kindler syndrome Criteria Provided
Single Submitter
 CA9758565 rs_773429449

1 SubmittersRCV003154181
NM_017671.5(FERMT1):c.1648G>T (p.Glu550Ter) SNV
Germline		 Chr20:6084110 Pathogenic Kindler syndrome Criteria Provided
Single Submitter
 CA408177364 rs_755090824

1 SubmittersRCV003994700
NM_017671.5(FERMT1):c.277C>T (p.Gln93Ter) SNV
Germline		 Chr20:6115919 Pathogenic Kindler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004797385
NM_017671.5(FERMT1):c.1090-1G>A SNV
Germline		 Chr20:6094989 Likely pathogenic Kindler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004821145