Total 26 pathogenic variants reported for Syndromic microphthalmia type 5

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_021728.4(OTX2):c.289C>G (p.Arg97Gly)	SNV Germline	Chr14:56802340	Pathogenic	Syndromic microphthalmia type 5	No Assertion Criteria Provided	CA120500	rs_104894464	1 SubmittersRCV000010124
NM_021728.4(OTX2):c.561T>A (p.Tyr187Ter)	SNV Germline	Chr14:56802068	Pathogenic	Syndromic microphthalmia type 5	Criteria Provided Single Submitter	CA120503	rs_104894465	2 SubmittersRCV000010126
NM_021728.4(OTX2):c.437C>G (p.Ser146Ter)	SNV Germline	Chr14:56802192	Pathogenic	Syndromic microphthalmia type 5	No Assertion Criteria Provided	CA213015	rs_786205879	1 SubmittersRCV000022925
NM_021728.4(OTX2):c.586G>T (p.Gly196Ter)	SNV Germline	Chr14:56802043	Pathogenic	Syndromic microphthalmia type 5 Anophthalmia-microphthalmia syndrome	Criteria Provided Single Submitter	CA128838	rs_397514463	2 SubmittersRCV000022927 RCV001857357
NM_021728.4(OTX2):c.294A>T (p.Arg98Ser)	SNV Germline	Chr14:56802335	Pathogenic	Syndromic microphthalmia type 5	No Assertion Criteria Provided	CA390052170	rs_1566623392	1 SubmittersRCV000022928
NM_021728.4(OTX2):c.289C>T (p.Arg97Ter)	SNV Germline	Chr14:56802340	Pathogenic	Syndromic microphthalmia type 5 Condition: not provided	Criteria Provided Single Submitter	CA199646	rs_104894464	2 SubmittersRCV000170471 RCV001558575
NM_021728.4(OTX2):c.259G>A (p.Glu87Lys)	SNV Germline	Chr14:56804202	Likely pathogenic	Syndromic microphthalmia type 5 Condition: not provided	Criteria Provided Single Submitter	CA199649	rs_786205224	2 SubmittersRCV000170472 RCV000494571
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)	SNV Germline	Chr14:56801988	Conflicting classifications of pathogenicity	Condition: not provided Anophthalmia-microphthalmia syndrome Syndromic microphthalmia type 5 Pituitary hormone deficiency, combined, 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7200447	rs_150982073	5 SubmittersRCV000338364 RCV000536545 RCV000989231 RCV001111279 RCV003165764
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)	SNV Germline	Chr14:56802204	Conflicting classifications of pathogenicity	Syndromic microphthalmia type 5 Pituitary hormone deficiency, combined, 6 Anophthalmia-microphthalmia syndrome Condition: not provided 46,XY partial gonadal dysgenesis Male infertility with azoospermia or oligozoospermia due to single gene mutation Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7200481	rs_199761861	7 SubmittersRCV000989232 RCV001113289 RCV001215155 RCV001840779 RCV002254530 RCV003991583 RCV004818099
NM_021728.4(OTX2):c.278G>T (p.Trp93Leu)	SNV Germline	Chr14:56802351	Likely pathogenic	Syndromic microphthalmia type 5	Criteria Provided Single Submitter	CA390052207	rs_2139529394	1 SubmittersRCV001806358
NM_021728.4(OTX2):c.591T>G (p.Tyr197Ter)	SNV Germline	Chr14:56802038	Pathogenic	Syndromic microphthalmia type 5 OTX2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390051536	rs_747279627	3 SubmittersRCV003153234 RCV004725665 RCV005254743
NM_021728.4(OTX2):c.150G>C (p.Arg50Ser)	SNV Unknown	Chr14:56804311	Likely pathogenic	Syndromic microphthalmia type 5	Criteria Provided Single Submitter	CA390052505	rs_1246931412	1 SubmittersRCV003985210
NM_021728.4(OTX2):c.761C>G (p.Ser254Ter)	SNV Germline	Chr14:56801868	Likely pathogenic	Syndromic microphthalmia type 5	Criteria Provided Single Submitter			1 SubmittersRCV005884586