C0039585[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705334	NM_000044.6(AR):c.1181_1200dup (p.Ala401fs)	AR (A401fs)	Duplication (frameshift variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 2572551	NM_000044.6(AR):c.1693G>C (p.Asp565His)	AR (D33H +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GUncertain significance
Select item 1196591	NM_000044.6(AR):c.1762G>C (p.Ala588Pro)	AR (A56P +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1687577	NM_000044.6(AR):c.1768+1G>A	AR	Single nucleotide variant (splice donor variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 434266	NM_000044.6(AR):c.1846C>T (p.Arg616Cys)	AR (R616C +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GPathogenic/Likely pathogenic
Select item 1705712	NM_000044.6(AR):c.1933G>T (p.Glu645Ter)	AR (E113* +1 more)	Single nucleotide variant (nonsense)	Androgen resistance syndrome	GLikely pathogenic
Select item 838128	NM_000044.6(AR):c.2047C>T (p.Pro683Ser)	AR (P683S +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GUncertain significance
Select item 9829	NM_000044.6(AR):c.2522G>A (p.Arg841His)	AR (R309H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 279690	NM_000044.6(AR):c.2668G>A (p.Val890Met)	AR (V890M +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GPathogenic
Select item 1333387	NM_000044.6(AR):c.2710G>T (p.Val904Leu)	AR (V372L +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic/Likely pathogenic