ClinVar for MedGen (Select 61651) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 998310	NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu)	PAX7 (P112L)	Single nucleotide variant (missense variant)	Alveolar rhabdomyosarcoma +2 more	GConflicting classifications of pathogenicity
Select item 998176	NM_000546.6(TP53):c.97-6_129del	TP53	Deletion (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 689508	NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)	PAX7 (R74*)	Single nucleotide variant (nonsense)	Myopathy, congenital, progressive, with scoliosis +1 more	GLikely pathogenic
Select item 504788	NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)	PAX3 (S180R +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3 +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)	not specified +6 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)	Alveolar rhabdomyosarcoma +4 more	GPathogenic

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