ClinVar for MedGen (Select 1782278) - ClinVar - NCBI

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Items: 16

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25849191.	NM_001257096.2(PAX1):c.395G>A (p.Arg132Gln) GRCh37: Chr20:21687184 GRCh38: Chr20:21706546	PAX1	R132Q	Otofaciocervical syndrome 2	Uncertain significance	criteria provided, single submitter
Select item 24345792.	NM_001257096.2(PAX1):c.1117T>G (p.Ser373Ala) GRCh37: Chr20:21689917 GRCh38: Chr20:21709279	PAX1	S373A	Otofaciocervical syndrome 2	Uncertain significance (Jan 13, 2019)	criteria provided, single submitter
Select item 21435013.	NM_001257096.2(PAX1):c.197dup (p.Ala67fs) GRCh37: Chr20:21686545-21686546 GRCh38: Chr20:21705907-21705908	PAX1	A67fs	Otofaciocervical syndrome 2, not provided	Conflicting interpretations of pathogenicity (Jul 18, 2022)	criteria provided, conflicting interpretations
Select item 20524474.	NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter) GRCh37: Chr20:21686508 GRCh38: Chr20:21705870	PAX1	S53*	Otofaciocervical syndrome 2, not provided	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 18068355.	NM_001257096.2(PAX1):c.1212dup (p.Gly405fs) GRCh37: Chr20:21690006-21690007 GRCh38: Chr20:21709368-21709369	PAX1	G405fs	Otofaciocervical syndrome 2, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2022)	criteria provided, conflicting interpretations
Select item 18060616.	NM_001257096.2(PAX1):c.967T>C (p.Trp323Arg) GRCh37: Chr20:21689246 GRCh38: Chr20:21708608	PAX1	W323R	Otofaciocervical syndrome 2, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14197687.	NM_001257096.2(PAX1):c.1175C>G (p.Pro392Arg) GRCh37: Chr20:21689975 GRCh38: Chr20:21709337	PAX1	P392R	not provided, Otofaciocervical syndrome 2	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12137648.	NM_001257096.2(PAX1):c.811C>G (p.Pro271Ala) GRCh37: Chr20:21687600 GRCh38: Chr20:21706962	PAX1	P271A	Otofaciocervical syndrome 2, not provided	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11710189.	NM_001257096.2(PAX1):c.439G>C (p.Val147Leu) GRCh37: Chr20:21687228 GRCh38: Chr20:21706590	PAX1	V147L	Otofaciocervical syndrome 2	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 117101710.	NM_001257096.2(PAX1):c.463_465del (p.Asn155del) GRCh37: Chr20:21687250-21687252 GRCh38: Chr20:21706612-21706614	PAX1	N155del	Otofaciocervical syndrome 2	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 103102611.	NM_001257096.2(PAX1):c.986C>G (p.Thr329Arg) GRCh37: Chr20:21689265 GRCh38: Chr20:21708627	PAX1	T329R	Otofaciocervical syndrome 2	Uncertain significance (Dec 7, 2019)	criteria provided, single submitter
Select item 103102512.	NM_001257096.2(PAX1):c.95C>T (p.Ala32Val) GRCh37: Chr20:21686445 GRCh38: Chr20:21705807	PAX1	A32V	not provided, Otofaciocervical syndrome 2	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82816013.	NM_001257096.2(PAX1):c.1181C>T (p.Pro394Leu) GRCh37: Chr20:21689981 GRCh38: Chr20:21709343	PAX1	P394L	Otofaciocervical syndrome 2, Inborn genetic diseases, not provided	Uncertain significance (Jan 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80055314.	NM_001257096.2(PAX1):c.1104C>A (p.Cys368Ter) GRCh37: Chr20:21689904 GRCh38: Chr20:21709266	PAX1	C368*	Otofaciocervical syndrome 2	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 52260415.	NM_001257096.2(PAX1):c.1169_1173dup (p.Pro392fs) GRCh37: Chr20:21689967-21689968 GRCh38: Chr20:21709329-21709330	PAX1	P392fs	Otofaciocervical syndrome 2	Likely pathogenic (Jan 1, 2017)	criteria provided, single submitter
Select item 8902616.	NM_001257096.2(PAX1):c.497G>T (p.Gly166Val) GRCh37: Chr20:21687286 GRCh38: Chr20:21706648	PAX1	G166V	not provided	Pathogenic (Sep 7, 2022)	criteria provided, single submitter