Related gene-specific medical variations for Gene (Select 269) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1256035	NM_020547.3(AMHR2):c.355A>G (p.Asn119Asp)	AMHR2 (N119D)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256033	NM_020547.3(AMHR2):c.55C>G (p.Pro19Ala)	AMHR2 (P19A)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256005	NM_020547.3(AMHR2):c.515G>A (p.Arg172Gln)	AMHR2 (R172Q)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256004	NM_020547.3(AMHR2):c.775C>T (p.Arg259Ter)	AMHR2 (R259*)	Single nucleotide variant (nonsense)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 689555	NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter)	AMHR2 (R332*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic

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