C1839259[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417975	NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	Partial androgen insensitivity syndrome +4 more	GUncertain significance
Select item 417977	NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	AR, LOC109504725	Microsatellite	Kennedy disease	GPathogenic
Select item 417976	NM_000044.4(AR):c.172_174CAG(36_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	LOC109504725, AR	Microsatellite	Kennedy disease	Grisk factor
Select item 417974	NM_000044.4(AR):c.172_174CAG(7_34) (p.Gln66_Gln80del)	AR, LOC109504725	Microsatellite	Kennedy disease	GBenign
Select item 155758	NM_000044.6(AR):c.639G>A (p.Glu213=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +3 more	GBenign

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