A total 17 pathogenic variants reported in gene Rho GTPase activating protein 35 (ARHGAP35)

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004491.5(ARHGAP35):c.2565C>A (p.Tyr855Ter)	SNV Unknown	Chr19:46921240	Likely pathogenic	Martsolf syndrome 1	Criteria Provided Single Submitter	CA309105971	rs_188397648	1 SubmittersRCV002305655
NM_004491.5(ARHGAP35):c.325C>T (p.Arg109Ter)	SNV Unknown	Chr19:46919000	Likely pathogenic	Martsolf syndrome 1	Criteria Provided Single Submitter	CA406502864	rs_1324454897	1 SubmittersRCV002305667
NM_004491.5(ARHGAP35):c.352A>T (p.Lys118Ter)	SNV Unknown	Chr19:46919027	Likely pathogenic	Martsolf syndrome 1	Criteria Provided Single Submitter	CA406503008	rs_2514156784	1 SubmittersRCV002305669
NM_004491.5(ARHGAP35):c.3850C>T (p.Arg1284Trp)	SNV Unknown	Chr19:46988012	Likely pathogenic	Martsolf syndrome 1	Criteria Provided Single Submitter	CA406501236	rs_2122336841	1 SubmittersRCV002305672
NM_004491.5(ARHGAP35):c.1600C>T (p.Gln534Ter)	SNV Germline	Chr19:46920275	Likely pathogenic	Neurodevelopmental disorder	Criteria Provided Single Submitter	CA406506559	rs_2056190516	1 SubmittersRCV002273230
NM_004491.5(ARHGAP35):c.1849C>T (p.Arg617Ter)	SNV Germline	Chr19:46920524	Pathogenic	Bilateral microphthalmos Syndromic microphthalmia	Criteria Provided Multiple Submitters No Conflicts	CA406507618	rs_1063735	2 SubmittersRCV002460354 RCV006605377
NM_004491.5(ARHGAP35):c.3199C>T (p.Gln1067Ter)	SNV Germline	Chr19:46921874	Pathogenic	not specified	Criteria Provided Single Submitter			1 SubmittersRCV005703599