ClinVar for MedGen (Select 1637490) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373957	NM_015100.4(POGZ):c.402_409dup (p.His137fs)	POGZ (H137fs +1 more)	Duplication (frameshift variant +1 more)	Short metacarpal +6 more	GLikely pathogenic
Select item 183284	NM_152316.3(ARL14EP):c.653G>A (p.Gly218Glu)	ARL14EP (G218E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2530	NM_144596.4(TTC8):c.489G>A (p.Thr163=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy +6 more	GConflicting classifications of pathogenicity

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