ClinVar for MedGen (Select 1615526) - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442149	NM_014285.7(EXOSC2):c.611G>A (p.Trp204Ter)	EXOSC2 (W174* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	GLikely pathogenic
Select item 1153205	NM_014285.7(EXOSC2):c.260G>A (p.Arg87Gln)	EXOSC2 (R87Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032616	NM_014285.7(EXOSC2):c.803T>G (p.Ile268Ser)	EXOSC2 (I268S +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	GUncertain significance
Select item 862968	NM_014285.7(EXOSC2):c.616T>C (p.Tyr206His)	EXOSC2 (Y206H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 623660	NM_014285.7(EXOSC2):c.673-1G>T	EXOSC2	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 446203	NM_014285.7(EXOSC2):c.593G>A (p.Gly198Asp)	EXOSC2 (G198D +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	GPathogenic
Select item 446202	NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val)	EXOSC2, LOC130002815 (G30V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity