ClinVar for MedGen (Select 934712) - ClinVar - NCBI

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Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 20636281.	NM_031307.4(PUS3):c.476G>A (p.Arg159His) GRCh37: Chr11:125765587 GRCh38: Chr11:125895692	HYLS1, PUS3	R159H	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, not provided	Uncertain significance (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18025682.	NM_031307.4(PUS3):c.[497G>A;896T>G] GRCh37: Chr11:125765566 Chr11:125765167 GRCh38: Chr11:125895671 Chr11:125895272	HYLS1, PUS3, HYLS1, PUS3	R166Q, I299S, I91S	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	Uncertain significance (Nov 29, 2022)	criteria provided, single submitter
Select item 14473063.	NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys) GRCh37: Chr11:125765968 GRCh38: Chr11:125896073	HYLS1, PUS3	Y71C	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 13249734.	NM_031307.4(PUS3):c.17_18del (p.Thr6fs) GRCh37: Chr11:125766162-125766163 GRCh38: Chr11:125896267-125896268	HYLS1, PUS3	T6fs	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	Likely pathogenic (Jun 24, 2021)	criteria provided, single submitter
Select item 11685035.	NM_031307.4(PUS3):c.7T>G (p.Tyr3Asp) GRCh37: Chr11:125766173 GRCh38: Chr11:125896278	HYLS1, PUS3	Y3D	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11685026.	NM_031307.4(PUS3):c.136G>T (p.Ala46Ser) GRCh37: Chr11:125766044 GRCh38: Chr11:125896149	HYLS1, PUS3	A46S	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11685017.	NM_031307.4(PUS3):c.1380G>C (p.Glu460Asp) GRCh37: Chr11:125763746 GRCh38: Chr11:125893851	HYLS1, PUS3	E252D, E460D	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9317518.	NM_031307.4(PUS3):c.366_367del (p.Ala123fs) GRCh37: Chr11:125765813-125765814 GRCh38: Chr11:125895918-125895919	HYLS1, PUS3	A123fs	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	Pathogenic/Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9317509.	NM_031307.4(PUS3):c.1082T>A (p.Met361Lys) GRCh37: Chr11:125764044 GRCh38: Chr11:125894149	PUS3, HYLS1	M153K, M361K	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	Uncertain significance (Jan 3, 2019)	criteria provided, single submitter
Select item 93037710.	NM_031307.4(PUS3):c.1048C>T (p.Gln350Ter) GRCh37: Chr11:125764078 GRCh38: Chr11:125894183	HYLS1, PUS3	Q350, Q142	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	Likely pathogenic (Mar 25, 2019)	criteria provided, single submitter
Select item 69202911.	NM_031307.4(PUS3):c.1A>G (p.Met1Val) GRCh37: Chr11:125766179 GRCh38: Chr11:125896284	HYLS1, PUS3	M1V	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, not provided	Pathogenic/Likely pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63259412.	NM_031307.4(PUS3):c.497G>A (p.Arg166Gln) GRCh37: Chr11:125765566 GRCh38: Chr11:125895671	HYLS1, PUS3	R166Q	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, not provided	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63259313.	NM_031307.4(PUS3):c.578G>A (p.Arg193Gln) GRCh37: Chr11:125765485 GRCh38: Chr11:125895590	HYLS1, PUS3	R193Q	not provided	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 61923514.	NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs) GRCh37: Chr11:125763944-125763945 GRCh38: Chr11:125894049-125894050	HYLS1, PUS3	S394fs, S186fs	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25316915.	NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) GRCh37: Chr11:125763823 GRCh38: Chr11:125893928	HYLS1, PUS3	R435, R227	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	Pathogenic (Jun 30, 2021)	criteria provided, single submitter