ClinVar for MedGen (Select 86948) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16964891.	NM_181458.4(PAX3):c.683C>T (p.Ala228Val) GRCh37: Chr2:223096906 GRCh38: Chr2:222232187	PAX3	A227V, A228V	Craniofacial-deafness-hand syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 3	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 13067882.	NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro) GRCh37: Chr2:223084996 GRCh38: Chr2:222220277	LOC126806529, PAX3	S345P, S346P	not provided, Alveolar rhabdomyosarcoma, Waardenburg syndrome type 3, Waardenburg syndrome type 1, Craniofacial-deafness-hand syndrome	Uncertain significance (Dec 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10648673.	NM_181458.4(PAX3):c.829C>T (p.Gln277Ter) GRCh37: Chr2:223086070 GRCh38: Chr2:222221351	PAX3	Q276, Q277	Waardenburg syndrome type 3	Pathogenic	criteria provided, single submitter
Select item 5477364.	NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) GRCh37: Chr2:223161772 GRCh38: Chr2:222297053	PAX3	C82W	Waardenburg syndrome type 3, Rare genetic deafness, not provided	Likely pathogenic (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5047885.	NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) GRCh37: Chr2:223158932 GRCh38: Chr2:222294213	PAX3	S180R, S179R	not specified, Waardenburg syndrome type 3, Alveolar rhabdomyosarcoma, Waardenburg syndrome type 1, Craniofacial-deafness-hand syndrome	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 5047866.	NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) GRCh37: Chr2:223158892 GRCh38: Chr2:222294173	PAX3	E194K, E193K	not provided, Waardenburg syndrome type 1, Craniofacial-deafness-hand syndrome, Alveolar rhabdomyosarcoma, Waardenburg syndrome type 3, Waardenburg syndrome, not specified, Craniofacial-deafness-hand syndrome	Conflicting interpretations of pathogenicity (May 25, 2022)	criteria provided, conflicting interpretations
Select item 5036807.	NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) GRCh37: Chr2:223096922 GRCh38: Chr2:222232203	PAX3	R223, R222	Waardenburg syndrome type 1, Waardenburg syndrome type 3, not provided	Pathogenic (May 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4880328.	NM_181458.4(PAX3):c.142G>T (p.Gly48Cys) GRCh37: Chr2:223161876 GRCh38: Chr2:222297157	PAX3	G48C	Waardenburg syndrome type 1, Waardenburg syndrome type 3	Conflicting interpretations of pathogenicity (Dec 14, 2021)	criteria provided, conflicting interpretations
Select item 2799649.	NM_181458.4(PAX3):c.812G>A (p.Arg271His) GRCh37: Chr2:223086087 GRCh38: Chr2:222221368	PAX3	R271H, R270H	Craniofacial-deafness-hand syndrome, Waardenburg syndrome type 1, Alveolar rhabdomyosarcoma, Waardenburg syndrome type 3, not provided, Waardenburg syndrome type 1	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19543210.	NM_181458.4(PAX3):c.129T>C (p.Gly43=) GRCh37: Chr2:223161889 GRCh38: Chr2:222297170	PAX3		Waardenburg syndrome, not specified, not provided, Waardenburg syndrome type 1, Waardenburg syndrome type 3, Craniofacial-deafness-hand syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 421611.	NM_181458.4(PAX3):c.268T>C (p.Tyr90His) GRCh37: Chr2:223161750 GRCh38: Chr2:222297031	PAX3	Y90H	Waardenburg syndrome type 3	Pathogenic (Sep 15, 2003)	no assertion criteria provided
Select item 421512.	NM_181458.4(PAX3):c.386_398del (p.Phe129fs) GRCh37: Chr2:223160300-223160312 GRCh38: Chr2:222295581-222295593	PAX3	F128fs, F129fs	Waardenburg syndrome type 3	Pathogenic (Oct 1, 2001)	no assertion criteria provided
Select item 421413.	NM_181458.4(PAX3):c.139A>C (p.Asn47His) GRCh37: Chr2:223161879 GRCh38: Chr2:222297160	PAX3	N47H	Waardenburg syndrome type 3	Pathogenic (Mar 1, 1993)	no assertion criteria provided
Select item 421214.	NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) GRCh37: Chr2:223161767 GRCh38: Chr2:222297048	PAX3	S84F	Waardenburg syndrome type 1	Pathogenic (Aug 1, 2020)	criteria provided, single submitter