ClinVar for MedGen (Select 816775) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684597	NM_016518.3(PIPOX):c.5C>T (p.Ala2Val)	PIPOX (A2V)	Single nucleotide variant (missense variant)	Low-frequency hearing loss +1 more	GUncertain significance
Select item 1684596	NM_001388459.1(FRMPD3):c.4068C>G (p.Ser1356Arg)	FRMPD3 (S1221R +2 more)	Single nucleotide variant (missense variant)	Low-frequency hearing loss +1 more	GLikely benign
Select item 1684595	NM_006741.4(PPP1R1A):c.310G>A (p.Ala104Thr)	PPP1R1A (A104T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1684594	NM_018248.3(NEIL3):c.242A>G (p.Lys81Arg)	NEIL3 (K81R)	Single nucleotide variant (missense variant)	Low-frequency hearing loss +1 more	GUncertain significance
Select item 1684593	NM_001012267.3(CENPP):c.849T>A (p.Cys283Ter)	CENPP (C110* +2 more)	Single nucleotide variant (nonsense)	Low-frequency hearing loss +1 more	GLikely pathogenic

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