Total 53 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 Nail-patella syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA254041 rs_121909486

2 SubmittersRCV000007415RCV001380261
NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter) SNV
Germline		 Chr9:126693243 Pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA254044 rs_121909487

2 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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254051 rs_121909489

3 SubmittersRCV000007420RCV000760427
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter) SNV
Germline		 Chr9:126693273 Pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254055 rs_121909490

3 SubmittersRCV000007421RCV000414681
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln) SNV
Germline		 Chr9:126693250 Pathogenic Nail-patella syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254059 rs_121909491

6 SubmittersRCV000007422RCV001388092
NM_001174147.2(LMX1B):c.741+1G>A SNV
Germline		 Chr9:126693324 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 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

4 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		 Criteria Provided
Conflicting Classifications
 CA5242462 rs_529668402

3 SubmittersRCV000248735RCV001269304RCV002058112
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) SNV
Germline		 Chr9:126693563 Conflicting classifications of pathogenicity Condition: not provided
Nail-patella syndrome		 Criteria Provided
Conflicting Classifications
 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.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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374913712 rs_1554728698

5 SubmittersRCV000579157RCV000763187
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) SNV
Germline		 Chr9:126693319 Pathogenic Condition: not provided
Nail-patella syndrome
Nephrotic syndrome
Nail-patella-like renal disease
Nail-patella syndrome
Nail-patella-like renal disease
Inherited focal segmental glomerulosclerosis
LMX1B-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA500006 rs_1191455921

12 SubmittersRCV000594256RCV001281185RCV001328157RCV001807647RCV002476296RCV003994037RCV003915707
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
 rs_1564143881

2 SubmittersRCV000714975RCV001868340
NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly) SNV
Germline		 Chr9:126693527 Likely pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 rs_121909492

1 SubmittersRCV000824858
NM_001174147.2(LMX1B):c.709T>C (p.Ser237Pro) SNV
Unknown		 Chr9:126693291 Pathogenic Nail-patella syndrome No Assertion Criteria Provided
 rs_1588307152

1 SubmittersRCV000856584
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
 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
 rs_1588307464

2 SubmittersRCV000999211RCV001809884
NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg) SNV
Germline		 Chr9:126693578 Likely pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 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
 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
 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
 rs_1588307477

1 SubmittersRCV001027512
NM_001174147.2(LMX1B):c.819+1G>A SNV
Germline		 Chr9:126693602 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 rs_1588307501

1 SubmittersRCV001027514
NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro) SNV
Germline		 Chr9:126693528 Pathogenic Nail-patella syndrome No Assertion Criteria Provided
 rs_1056252582

1 SubmittersRCV001029968
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
 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		 Criteria Provided
Conflicting Classifications
 rs_181422024

3 SubmittersRCV001168837RCV002491481RCV002559620
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
 rs_1203103557

2 SubmittersRCV001168838RCV002068034
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
 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		 Criteria Provided
Conflicting Classifications
 rs_914683099

2 SubmittersRCV001165951RCV002068010
NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser) SNV
Germline		 Chr9:126693579 Likely pathogenic Nail-patella syndrome Criteria Provided
Single Submitter
 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
 rs_1588307140

5 SubmittersRCV001254094RCV001388093RCV002485994
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter) SNV
Germline		 Chr9:126615568 Pathogenic Condition: not provided
Nail-patella syndrome
Nail-patella-like renal disease		 Criteria Provided
Multiple Submitters
No Conflicts
 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		 Criteria Provided
Conflicting Classifications
 rs_121909488

2 SubmittersRCV001289550RCV003558794
NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter) SNV
Germline		 Chr9:126695901 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002470420
NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter) SNV
Unknown		 Chr9:126615502 Pathogenic Nail-patella syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003228792