Total 15 pathogenic variants reported for Microcephaly 17, primary, autosomal recessive 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) SNV
Germline		 Chr3:129533711 Pathogenic/Likely pathogenic Retinitis pigmentosa 4
Retinitis pigmentosa
Condition: not provided
Blurred vision
Peripheral visual field loss
Night blindness
Retinal dystrophy
Microcephaly 17, primary, autosomal recessive
RHO-related disorder
Retinal disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256662 rs_29001566

20 SubmittersRCV000013888RCV000504743RCV000490027RCV000626702RCV001075874RCV003989284RCV004755732RCV006253541
NM_001206999.2(CIT):c.1111+1G>A SNV
Germline		 Chr12:119822819 Pathogenic Autosomal recessive primary microcephaly
Microcephaly 17, primary, autosomal recessive		 Criteria Provided
Single Submitter
 CA10586147 rs_879255522

3 SubmittersRCV000239414RCV000240615
NM_001206999.2(CIT):c.317G>T (p.Gly106Val) SNV
Germline		 Chr12:119857620 Pathogenic Microcephaly 17, primary, autosomal recessive No Assertion Criteria Provided
 CA10586337 rs_886037892

1 SubmittersRCV000240608
NM_001206999.2(CIT):c.376A>C (p.Lys126Gln) SNV
Germline		 Chr12:119857561 Pathogenic Microcephaly 17, primary, autosomal recessive No Assertion Criteria Provided
 CA10586338 rs_886037893

1 SubmittersRCV000240614
NM_001206999.2(CIT):c.689A>T (p.Asp230Val) SNV
Germline		 Chr12:119832835 Pathogenic Microcephaly 17, primary, autosomal recessive No Assertion Criteria Provided
 CA10586339 rs_886037894

1 SubmittersRCV000240618
NM_001206999.2(CIT):c.753+3A>T SNV
Germline		 Chr12:119832768 Pathogenic Microcephaly 17, primary, autosomal recessive No Assertion Criteria Provided
 CA10586340 rs_886037895

1 SubmittersRCV000240619
NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser) SNV
Germline		 Chr12:119728602 Conflicting classifications of pathogenicity Microcephaly 17, primary, autosomal recessive
Condition: not provided
CIT-related disorder
Intellectual disability
not specified		 Criteria Provided
Conflicting Classifications
 CA6821487 rs_145731510

6 SubmittersRCV000787946RCV000903019RCV003938159RCV005626210RCV005438031
NM_001206999.2(CIT):c.658C>T (p.Arg220Ter) SNV
Germline		 Chr12:119834087 Pathogenic Condition: not provided
Microcephaly 17, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6822345 rs_202076791

2 SubmittersRCV001091856RCV005410926
NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp) SNV
Germline		 Chr12:119857570 Likely pathogenic Microcephaly 17, primary, autosomal recessive Criteria Provided
Single Submitter
 CA386549189 rs_2138306726

1 SubmittersRCV001375663
NM_001206999.2(CIT):c.957+1G>T SNV
Germline		 Chr12:119825164 Pathogenic Microcephaly 17, primary, autosomal recessive Criteria Provided
Single Submitter
 CA386542777 rs_1968060326

1 SubmittersRCV001808106
NM_001206999.2(CIT):c.938A>G (p.Asn313Ser) SNV
Germline		 Chr12:119825184 Conflicting classifications of pathogenicity Microcephaly 17, primary, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6822257 rs_747401094

2 SubmittersRCV003144988RCV004614407
NM_001206999.2(CIT):c.1555C>T (p.Arg519Ter) SNV
Germline		 Chr12:119782628 Likely pathogenic Microcephaly 17, primary, autosomal recessive Criteria Provided
Single Submitter
 CA386546927 rs_1964403206

1 SubmittersRCV004547318
NM_001206999.2(CIT):c.142C>T (p.Arg48Ter) SNV
Germline		 Chr12:119869156 Pathogenic Microcephaly 17, primary, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005418825