Total 28 pathogenic variants reported for Zimmermann-Laband syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) SNV
Germline		 Chr1:210804149 Pathogenic Temple-Baraitser syndrome
Zimmermann-Laband syndrome 1
Temple-Baraitser syndrome
Zimmermann-Laband syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA215045 rs_727502819

4 SubmittersRCV000149910RCV000185590RCV000677640RCV001781489
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) SNV
Germline		 Chr1:210804143 Pathogenic/Likely pathogenic Zimmermann-Laband syndrome 1
Condition: not provided
Inborn genetic diseases
See cases
Temple-Baraitser syndrome
Zimmermann-Laband syndrome 1
Temple-Baraitser syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA215108 rs_730882175

10 SubmittersRCV000190321RCV000498687RCV000623955RCV001420320RCV002464134RCV002498803
NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu) SNV
Germline		 Chr1:210919955 Pathogenic Zimmermann-Laband syndrome 1 No Assertion Criteria Provided
 CA215105 rs_730882173

1 SubmittersRCV000190320
NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val) SNV
Germline		 Chr1:210919967 Pathogenic Zimmermann-Laband syndrome 1 No Assertion Criteria Provided
 CA215095 rs_730882176

2 SubmittersRCV000185592
NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg) SNV
Germline		 Chr1:210919979 Pathogenic Zimmermann-Laband syndrome 1 No Assertion Criteria Provided
 CA215102 rs_730882174

2 SubmittersRCV000190319
NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr) SNV
Germline		 Chr1:210920047 Pathogenic Zimmermann-Laband syndrome 1 No Assertion Criteria Provided
 CA215111 rs_730882172

1 SubmittersRCV000190322
NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) SNV
Germline		 Chr8:20220320 Pathogenic Zimmermann-Laband syndrome 2
Zimmermann-Laband syndrome 1		 No Assertion Criteria Provided
 CA215100 rs_730882177

2 SubmittersRCV000185603RCV000190318
NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) SNV
Germline		 Chr8:20220382 Pathogenic Autosomal dominant deafness - onychodystrophy syndrome
Neurodevelopmental delay
Condition: not provided
Autosomal dominant deafness - onychodystrophy syndrome
Zimmermann-Laband syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA215098 rs_794729667

5 SubmittersRCV000185602RCV002273974RCV003128591RCV005042398
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) SNV
Germline		 Chr1:210920032 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Intellectual disability, severe
Abnormal facial shape
Seizure
Zimmermann-Laband syndrome 1
Temple-Baraitser syndrome
Seizure
KCNH1-related disorder
Intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602773 rs_886041300

16 SubmittersRCV000354221RCV000624249RCV001003573RCV001251120RCV001262681RCV002274967RCV004547654RCV005625494
NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln) SNV
Germline		 Chr8:20216454 Likely pathogenic Zimmermann-Laband syndrome 2 Criteria Provided
Single Submitter
 CA370473147 rs_1135401772

1 SubmittersRCV000496102
NM_001693.4(ATP6V1B2):c.1465A>T (p.Lys489Ter) SNV
Germline		 Chr8:20220331 Pathogenic Zimmermann-Laband syndrome with epileptic encephalopathy Criteria Provided
Single Submitter
 CA370473956 rs_1585256207

1 SubmittersRCV000984015
NM_002249.6(KCNN3):c.1306A>T (p.Ser436Cys) SNV
Germline		 Chr1:154772117 Pathogenic Zimmermann-Laband syndrome 3 No Assertion Criteria Provided
 CA343066724 rs_1571259807

1 SubmittersRCV000991125
NM_002249.6(KCNN3):c.805A>G (p.Lys269Glu) SNV
Germline		 Chr1:154869160 Pathogenic Zimmermann-Laband syndrome 3 No Assertion Criteria Provided
 CA342632275 rs_1571353663

1 SubmittersRCV000991126
NM_002249.6(KCNN3):c.1049G>A (p.Gly350Asp) SNV
Germline		 Chr1:154772374 Pathogenic Zimmermann-Laband syndrome 3 No Assertion Criteria Provided
 CA343067350 rs_1571260285

1 SubmittersRCV000991127
NM_172362.3(KCNH1):c.1559G>A (p.Arg520Gln) SNV
Germline		 Chr1:210804070 Likely pathogenic Zimmermann-Laband syndrome 1 Criteria Provided
Single Submitter
 CA344874391 rs_1684483227

1 SubmittersRCV001337057
NM_002249.6(KCNN3):c.1606G>A (p.Ala536Thr) SNV
Germline		 Chr1:154726011 Pathogenic Zimmermann-Laband syndrome 3 Criteria Provided
Single Submitter
 CA343069280 rs_2101782564

1 SubmittersRCV001374389
NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg) SNV
Germline		 Chr1:210683769 Conflicting classifications of pathogenicity Condition: not provided
Temple-Baraitser syndrome
Zimmermann-Laband syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1379648 rs_752232888

5 SubmittersRCV001581013RCV001837020RCV005350627
NM_001693.4(ATP6V1B2):c.1121A>G (p.Glu374Gly) SNV
Germline		 Chr8:20216455 Pathogenic ATP6V1B2 related neurodevelopmental disorders
Zimmermann-Laband syndrome 2		 Criteria Provided
Single Submitter
 CA370473150 rs_2128886555

1 SubmittersRCV001813609RCV003314019
NM_172362.3(KCNH1):c.2392G>A (p.Val798Ile) SNV
Germline		 Chr1:210683859 Conflicting classifications of pathogenicity Condition: not provided
Temple-Baraitser syndrome
Zimmermann-Laband syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1379676 rs_761754626

3 SubmittersRCV001951979RCV005016843RCV005361828
NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr) SNV
Germline		 Chr1:210684089 Conflicting classifications of pathogenicity Condition: not provided
Zimmermann-Laband syndrome 1
Temple-Baraitser syndrome
Inborn genetic diseases
KCNH1-related disorder		 Criteria Provided
Conflicting Classifications
 CA1379742 rs_140043333

5 SubmittersRCV002132119RCV003224614RCV003025435RCV004741234
NM_172362.3(KCNH1):c.1123G>C (p.Gly375Arg) SNV
Germline		 Chr1:210919979 Pathogenic Zimmermann-Laband syndrome 1 Criteria Provided
Single Submitter
 CA344873885 rs_730882174

1 SubmittersRCV003223540
NM_001693.4(ATP6V1B2):c.124C>T (p.Gln42Ter) SNV
Germline		 Chr8:20197530 Likely pathogenic Zimmermann-Laband syndrome 2 Criteria Provided
Single Submitter
 CA370470827 rs_2486443112

1 SubmittersRCV003314528
NM_002249.6(KCNN3):c.2141T>C (p.Ile714Thr) SNV
Germline		 Chr1:154708031 Conflicting classifications of pathogenicity Inborn genetic diseases
Zimmermann-Laband syndrome 3
not specified		 Criteria Provided
Conflicting Classifications
 CA1131905 rs_76925601

3 SubmittersRCV004406345RCV005392780RCV005435405
NM_001693.4(ATP6V1B2):c.487C>G (p.Arg163Gly) SNV
Germline		 Chr8:20211200 Likely pathogenic Zimmermann-Laband syndrome 2 Criteria Provided
Single Submitter
 rs_2486461841

1 SubmittersRCV004594896
NM_001693.4(ATP6V1B2):c.1192C>G (p.Leu398Val) SNV
Germline		 Chr8:20217250 Pathogenic Zimmermann-Laband syndrome 2 No Assertion Criteria Provided

1 SubmittersRCV004764393
NM_001693.4(ATP6V1B2):c.1443G>A (p.Trp481Ter) SNV
Germline		 Chr8:20220309 Pathogenic Zimmermann-Laband syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004789756
NM_001693.4(ATP6V1B2):c.1057A>T (p.Ile353Phe) SNV
Germline		 Chr8:20214947 Likely pathogenic Zimmermann-Laband syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005603987