ClinVar for MedGen (Select 1782278) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584919	NM_001257096.2(PAX1):c.395G>A (p.Arg132Gln)	PAX1 (R132Q)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 2	GUncertain significance
Select item 2434579	NM_001257096.2(PAX1):c.1117T>G (p.Ser373Ala)	PAX1 (S373A)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 2	GUncertain significance
Select item 2143501	NM_001257096.2(PAX1):c.197dup (p.Ala67fs)	PAX1 (A67fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2052447	NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)	PAX1 (S53*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806835	NM_001257096.2(PAX1):c.1212dup (p.Gly405fs)	PAX1 (G405fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806061	NM_001257096.2(PAX1):c.967T>C (p.Trp323Arg)	PAX1 (W323R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1419768	NM_001257096.2(PAX1):c.1175C>G (p.Pro392Arg)	PAX1 (P392R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1213764	NM_001257096.2(PAX1):c.811C>G (p.Pro271Ala)	PAX1 (P271A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1171018	NM_001257096.2(PAX1):c.439G>C (p.Val147Leu)	PAX1 (V147L)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 2	GPathogenic
Select item 1171017	NM_001257096.2(PAX1):c.463_465del (p.Asn155del)	PAX1 (N155del)	Deletion (inframe_deletion)	Otofaciocervical syndrome 2	GPathogenic
Select item 1031026	NM_001257096.2(PAX1):c.986C>G (p.Thr329Arg)	PAX1 (T329R)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 2	GUncertain significance
Select item 1031025	NM_001257096.2(PAX1):c.95C>T (p.Ala32Val)	PAX1 (A32V)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 2 +1 more	GUncertain significance
Select item 828160	NM_001257096.2(PAX1):c.1181C>T (p.Pro394Leu)	PAX1 (P394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 800553	NM_001257096.2(PAX1):c.1104C>A (p.Cys368Ter)	PAX1 (C368*)	Single nucleotide variant (nonsense)	Otofaciocervical syndrome 2	GPathogenic
Select item 522604	NM_001257096.2(PAX1):c.1169_1173dup (p.Pro392fs)	PAX1 (P392fs)	Duplication (frameshift variant)	Otofaciocervical syndrome 2	GLikely pathogenic
Select item 89026	NM_001257096.2(PAX1):c.497G>T (p.Gly166Val)	PAX1 (G166V)	Single nucleotide variant (missense variant)	not provided	GPathogenic