ClinVar for MedGen (Select 86948) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336795	NM_181458.4(PAX3):c.265A>G (p.Arg89Gly)	PAX3 (R89G)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3	GLikely pathogenic
Select item 1696489	NM_181458.4(PAX3):c.683C>T (p.Ala228Val)	PAX3 (A227V +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +2 more	GUncertain significance
Select item 1306788	NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro)	LOC126806529, PAX3 (S345P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3 +4 more	GUncertain significance
Select item 1064867	NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)	PAX3 (Q276* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 3	GPathogenic
Select item 1027898	NM_181458.4(PAX3):c.467G>C (p.Arg156Pro)	PAX3 (R155P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3 +1 more	GUncertain significance
Select item 547736	NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)	PAX3 (C82W)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3 +2 more	GLikely pathogenic
Select item 504788	NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)	PAX3 (S180R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 504786	NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)	PAX3 (E194K +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome +6 more	GConflicting classifications of pathogenicity
Select item 503680	NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)	PAX3 (R223* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1 +2 more	GPathogenic
Select item 488032	NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)	PAX3 (G48C)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 279964	NM_181458.4(PAX3):c.812G>A (p.Arg271His)	PAX3 (R271H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 195432	NM_181458.4(PAX3):c.129T>C (p.Gly43=)	PAX3	Single nucleotide variant (synonymous variant)	Waardenburg syndrome type 1 +5 more	GBenign
Select item 4216	NM_181458.4(PAX3):c.268T>C (p.Tyr90His)	PAX3 (Y90H)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3	GPathogenic
Select item 4215	NM_181458.4(PAX3):c.386_398del (p.Phe129fs)	PAX3 (F128fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 3	GPathogenic
Select item 4214	NM_181458.4(PAX3):c.139A>C (p.Asn47His)	PAX3 (N47H)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3	GPathogenic
Select item 4212	NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)	PAX3 (S84F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic