Total 74 pathogenic variants reported for Nail-patella syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys) SNV
Germline		 Chr9:126693589 Pathogenic/Likely pathogenic Nail-patella syndrome
Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254041 rs_121909486

3 SubmittersRCV000007415RCV001380261RCV005049319
NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter) SNV
Germline		 Chr9:126693243 Pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254044 rs_121909487

4 SubmittersRCV000007416RCV001388091
NM_001174147.2(LMX1B):c.353G>T (p.Cys118Phe) SNV
Germline		 Chr9:126690862 Pathogenic Nail-patella syndrome No Assertion Criteria Provided
 CA254048 rs_121909488

1 SubmittersRCV000007418
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter) SNV
Germline		 Chr9:126615487 Pathogenic Nail-patella syndrome
Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254051 rs_121909489

4 SubmittersRCV000007420RCV000760427RCV005049320
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter) SNV
Germline		 Chr9:126693273 Pathogenic/Likely pathogenic Nail-patella syndrome
Condition: not provided
Inborn genetic diseases
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254055 rs_121909490

6 SubmittersRCV000007421RCV000414681RCV004639120RCV006449352
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln) SNV
Germline		 Chr9:126693250 Pathogenic Nail-patella syndrome
Condition: not provided
LMX1B-related disorder
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254059 rs_121909491

8 SubmittersRCV000007422RCV001388092RCV004748508RCV005042000
NM_001174147.2(LMX1B):c.741+1G>A SNV
Germline		 Chr9:126693324 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 CA374913723 rs_1427331961

2 SubmittersRCV000007423
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter) SNV
Germline		 Chr9:126693527 Pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254062 rs_121909492

5 SubmittersRCV000007425RCV001380260
NM_001174147.2(LMX1B):c.306C>G (p.Tyr102Ter) SNV
Germline		 Chr9:126615549 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 CA339745 rs_864621969

1 SubmittersRCV000205274
NM_001174147.2(LMX1B):c.886+18C>T SNV
Germline		 Chr9:126693830 Conflicting classifications of pathogenicity not specified
Nail-patella syndrome
Condition: not provided
LMX1B-related disorder		 Criteria Provided
Conflicting Classifications
 CA5242462 rs_529668402

3 SubmittersRCV000248735RCV001269304RCV002058112RCV005222854
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) SNV
Germline		 Chr9:126693563 Pathogenic Condition: not provided
Nail-patella syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588465 rs_886039576

3 SubmittersRCV000255008RCV000763188
NM_001174147.2(LMX1B):c.57G>A (p.Thr19=) SNV
Germline		 Chr9:126614506 Conflicting classifications of pathogenicity Nail-patella syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5242204 rs_376265443

2 SubmittersRCV000319964RCV002061315
NM_001174147.2(LMX1B):c.972G>C (p.Gln324His) SNV
Germline		 Chr9:126695924 Conflicting classifications of pathogenicity Nail-patella syndrome
Nail-patella syndrome
Nail-patella-like renal disease
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10628911 rs_886063418

4 SubmittersRCV000337652RCV002488822RCV003556371RCV005589830
NM_001174147.2(LMX1B):c.742-15C>G SNV
Germline		 Chr9:126693509 Conflicting classifications of pathogenicity Nail-patella syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5242422 rs_566334716

2 SubmittersRCV000295647RCV002524584
NM_001174147.2(LMX1B):c.176G>T (p.Cys59Phe) SNV
Germline		 Chr9:126615419 Pathogenic Nail-patella syndrome No Assertion Criteria Provided
 CA374909920 rs_1554721879

1 SubmittersRCV000505642
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter) SNV
Germline		 Chr9:126693318 Pathogenic Condition: not provided
Nail-patella syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374913712 rs_1554728698

7 SubmittersRCV000579157RCV000763187RCV006362477
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) SNV
Germline		 Chr9:126693319 Pathogenic Condition: not provided
Nephrotic syndrome
Nail-patella syndrome
Nail-patella-like renal disease
Nail-patella syndrome
Nail-patella-like renal disease
LMX1B-related disorder
Inherited focal segmental glomerulosclerosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA500006 rs_1191455921

14 SubmittersRCV000594256RCV001328157RCV001281185RCV001807647RCV002476296RCV003915707RCV003994037
NM_001174147.2(LMX1B):c.741+1G>T SNV
Germline		 Chr9:126693324 Pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA374913725 rs_1427331961

3 SubmittersRCV000625602RCV001860462
NM_001174147.2(LMX1B):c.305A>G (p.Tyr102Cys) SNV
Germline		 Chr9:126615548 Likely pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA374910210 rs_1564143881

2 SubmittersRCV000714975RCV001868340
NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly) SNV
Germline		 Chr9:126693527 Likely pathogenic Nail-patella syndrome
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374913769 rs_121909492

2 SubmittersRCV000824858RCV005047122
NM_001174147.2(LMX1B):c.709T>C (p.Ser237Pro) SNV
Germline		 Chr9:126693291 Pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA374913638 rs_1588307152

2 SubmittersRCV000856584RCV005414543
NM_001174147.2(LMX1B):c.886+8G>A SNV
Germline		 Chr9:126693820 Conflicting classifications of pathogenicity Condition: not provided
Nail-patella syndrome
LMX1B-related disorder		 Criteria Provided
Conflicting Classifications
 CA5242460 rs_774459476

3 SubmittersRCV000887695RCV001165952RCV003975594
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) SNV
Germline		 Chr9:126693566 Pathogenic/Likely pathogenic Condition: not provided
Nail-patella syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374913884 rs_1588307464

4 SubmittersRCV000999211RCV001809884
NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg) SNV
Germline		 Chr9:126693578 Likely pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 CA374913910 rs_1588307482

1 SubmittersRCV000995798
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter) SNV
Germline		 Chr9:126615412 Pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374909902 rs_1588257904

3 SubmittersRCV001027509RCV003558646
NM_001174147.2(LMX1B):c.793G>C (p.Val265Leu) SNV
Germline		 Chr9:126693575 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 CA374913905 rs_1588307477

1 SubmittersRCV001027511
NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe) SNV
Germline		 Chr9:126693575 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 CA374913906 rs_1588307477

1 SubmittersRCV001027512
NM_001174147.2(LMX1B):c.819+1G>A SNV
Germline		 Chr9:126693602 Pathogenic Nail-patella syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA374913973 rs_1588307501

2 SubmittersRCV001027514
NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro) SNV
Germline		 Chr9:126693528 Pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA374913771 rs_1056252582

2 SubmittersRCV001029968RCV005622050
NM_001174147.2(LMX1B):c.375C>T (p.Thr125=) SNV
Germline		 Chr9:126690884 Conflicting classifications of pathogenicity Nail-patella syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA199810146 rs_921576454

2 SubmittersRCV001168067RCV002557444
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met) SNV
Germline		 Chr9:126691044 Conflicting classifications of pathogenicity Nail-patella syndrome
Nail-patella syndrome
Nail-patella-like renal disease
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5242332 rs_181422024

4 SubmittersRCV001168837RCV002491481RCV002559620RCV005056979
NM_001174147.2(LMX1B):c.720C>T (p.Val240=) SNV
Germline		 Chr9:126693302 Conflicting classifications of pathogenicity Nail-patella syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA467136575 rs_1203103557

2 SubmittersRCV001168838RCV002068034
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=) SNV
Germline		 Chr9:126695885 Conflicting classifications of pathogenicity Nail-patella syndrome
Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease
LMX1B-related disorder		 Criteria Provided
Conflicting Classifications
 CA5242488 rs_145052881

6 SubmittersRCV001165953RCV001438749RCV002491476RCV003945889
NM_001174147.2(LMX1B):c.*950G>C SNV
Germline		 Chr9:126697401 Conflicting classifications of pathogenicity Nail-patella syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA199818322 rs_568763153

2 SubmittersRCV001168962RCV003326547
NM_001174147.2(LMX1B):c.820-13G>A SNV
Germline		 Chr9:126693733 Conflicting classifications of pathogenicity Nail-patella syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA199813985 rs_914683099

3 SubmittersRCV001165951RCV002068010RCV006269309
NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser) SNV
Germline		 Chr9:126693579 Likely pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 CA374913914 rs_2030220818

1 SubmittersRCV001253358
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) SNV
Germline		 Chr9:126693288 Pathogenic Nail-patella syndrome
Condition: not provided
Nail-patella-like renal disease
Nail-patella syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374913624 rs_1588307140

5 SubmittersRCV001254094RCV001388093RCV002485994
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter) SNV
Germline		 Chr9:126615568 Pathogenic Condition: not provided
Nail-patella-like renal disease
Nail-patella syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374910261 rs_1835287406

2 SubmittersRCV001269974RCV002499464
NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr) SNV
Germline		 Chr9:126690862 Conflicting classifications of pathogenicity Nail-patella syndrome
Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Conflicting Classifications
 CA374912130 rs_121909488

3 SubmittersRCV001289550RCV003558794RCV005040130
NM_001174147.2(LMX1B):c.874C>T (p.Arg292Trp) SNV
Germline		 Chr9:126693800 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Conflicting Classifications
 CA199814043 rs_560914000

3 SubmittersRCV001303429RCV002539523RCV005040148
NM_001174147.2(LMX1B):c.451C>T (p.Arg151Cys) SNV
Germline		 Chr9:126690960 Conflicting classifications of pathogenicity Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Conflicting Classifications
 CA5242314 rs_149434820

2 SubmittersRCV001323586RCV002504503
NM_001174147.2(LMX1B):c.958G>A (p.Val320Met) SNV
Germline		 Chr9:126695910 Conflicting classifications of pathogenicity Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5242495 rs_778847250

3 SubmittersRCV001338895RCV003333156RCV003333157RCV005361541
NM_001174147.2(LMX1B):c.1153G>A (p.Val385Met) SNV
Germline		 Chr9:126696395 Conflicting classifications of pathogenicity Condition: not provided
Focal segmental glomerulosclerosis
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Conflicting Classifications
 CA5242574 rs_750526845

3 SubmittersRCV002027722RCV002294502RCV005042696
NM_001174147.2(LMX1B):c.1201G>A (p.Ala401Thr) SNV
Germline		 Chr9:126696443 Conflicting classifications of pathogenicity Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5242589 rs_761796969

3 SubmittersRCV001863920RCV002478130RCV002547951
NM_001174147.2(LMX1B):c.915G>A (p.Met305Ile) SNV
Germline		 Chr9:126695867 Conflicting classifications of pathogenicity Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Conflicting Classifications
 CA374914906 rs_2118997138

2 SubmittersRCV001884881RCV004728912
NM_001174147.2(LMX1B):c.445C>T (p.Gln149Ter) SNV
Germline		 Chr9:126690954 Pathogenic Condition: not provided
Nail-patella syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374912492 rs_2118987040

2 SubmittersRCV001999709RCV005415479
NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter) SNV
Germline		 Chr9:126695901 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 CA374915012 rs_2490694993

1 SubmittersRCV002470420
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=) SNV
Germline		 Chr9:126693565 Conflicting classifications of pathogenicity Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Conflicting Classifications
 CA5242427 rs_371560611

3 SubmittersRCV003134088RCV005047429
NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter) SNV
Germline		 Chr9:126615502 Pathogenic Nail-patella syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374910103 rs_2490518285

2 SubmittersRCV003228792RCV005662629
NM_001174147.2(LMX1B):c.437G>A (p.Cys146Tyr) SNV
Germline		 Chr9:126690946 Conflicting classifications of pathogenicity Condition: not provided
Nail-patella syndrome		 Criteria Provided
Conflicting Classifications
 CA374912457 rs_2490682650

2 SubmittersRCV003557480RCV005871211
NM_001174147.2(LMX1B):c.755T>A (p.Leu252Gln) SNV
Germline		 Chr9:126693537 Likely pathogenic Nail-patella syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004732504
NM_001174147.2(LMX1B):c.794T>G (p.Val265Gly) SNV
Germline		 Chr9:126693576 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004813517
NM_001174147.2(LMX1B):c.746G>A (p.Arg249Gln) SNV
Germline		 Chr9:126693528 Pathogenic Nail-patella syndrome
Nail-patella-like renal disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005043831RCV005105320
NM_001174147.2(LMX1B):c.929C>T (p.Thr310Met) SNV
Germline		 Chr9:126695881 Conflicting classifications of pathogenicity Nail-patella syndrome
Nail-patella-like renal disease
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV005043834RCV005105321RCV005594875
NM_001174147.2(LMX1B):c.640A>T (p.Lys214Ter) SNV
Germline		 Chr9:126693222 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005205664
NM_001174147.2(LMX1B):c.411C>A (p.His137Gln) SNV
Unknown		 Chr9:126690920 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005638815
NM_001174147.2(LMX1B):c.-226G>A SNV
Germline		 Chr9:126614224 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005882352
NM_001174147.2(LMX1B):c.432C>A (p.Cys144Ter) SNV
Germline		 Chr9:126690941 Likely pathogenic Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Single Submitter

1 SubmittersRCV006455011