ClinVar for MedGen (Select 1384439) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1332833	NM_001145860.2(POP1):c.2087T>A (p.Val696Asp)	POP1 (V696D)	Single nucleotide variant (missense variant)	Anauxetic dysplasia 2	GLikely pathogenic
Select item 1289269	NM_001145860.2(POP1):c.2057+21A>G	POP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1029341	NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter)	POP1 (R513*)	Single nucleotide variant (nonsense)	Anauxetic dysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 417738	NM_001145860.2(POP1):c.1531G>T (p.Asp511Tyr)	POP1 (D511Y)	Single nucleotide variant (missense variant)	Anauxetic dysplasia 2	GPathogenic
Select item 417737	NM_001145860.2(POP1):c.2607del (p.Glu870fs)	POP1 (E870fs)	Deletion (frameshift variant)	Anauxetic dysplasia 2	GPathogenic
Select item 417736	NM_001145860.2(POP1):c.1744C>T (p.Pro582Ser)	POP1 (P582S)	Single nucleotide variant (missense variant)	Anauxetic dysplasia 2	GPathogenic
Select item 393589	NM_001145860.2(POP1):c.1748G>A (p.Gly583Glu)	POP1 (G583E)	Single nucleotide variant (missense variant)	Anauxetic dysplasia 2	GPathogenic
Select item 393588	NM_001145860.2(POP1):c.1573C>T (p.Pro525Ser)	POP1 (P525S)	Single nucleotide variant (missense variant)	Anauxetic dysplasia 2	GPathogenic

ClinVar