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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9818	NM_000044.6:c.171GCA[10_36]	AR, LOC109504725	Microsatellite	Kennedy disease	GPathogenic
Select item 9813	NM_000044.6(AR):c.1789G>A (p.Ala597Thr)	AR (A597T +2 more)	Single nucleotide variant (missense variant)	Kennedy disease +2 more	GPathogenic
Select item 9820	NM_000044.6(AR):c.1823G>A (p.Arg608Gln)	AR (R608Q +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +2 more	GPathogenic/Likely pathogenic
Select item 9861	NM_000044.6(AR):c.1937C>A (p.Ala646Asp)	AR (A114D +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 9836	NM_000044.6(AR):c.2164G>A (p.Ala722Thr)	AR (A190T +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 9849	NM_000044.6(AR):c.2180G>T (p.Arg727Leu)	AR (R195L +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GConflicting classifications of pathogenicity
Select item 9817	NM_000044.6(AR):c.2191G>A (p.Val731Met)	AR (V199M +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GConflicting classifications of pathogenicity
Select item 9857	NM_000044.6(AR):c.2231G>T (p.Gly744Val)	AR (G212V +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GPathogenic
Select item 9804	NM_000044.6(AR):c.2323C>T (p.Arg775Cys)	AR (R775C +1 more)	Single nucleotide variant (missense variant)	Kennedy disease +2 more	GPathogenic
Select item 9819	NM_000044.6(AR):c.2324G>A (p.Arg775His)	AR (R243H +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GPathogenic
Select item 9807	NM_000044.6(AR):c.2391G>A (p.Trp797Ter)	AR (W265* +1 more)	Single nucleotide variant (nonsense)	Androgen resistance syndrome +1 more	GPathogenic
Select item 9846	NM_000044.6(AR):c.2395C>G (p.Gln799Glu)	AR (Q267E +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 9830	NM_000044.6(AR):c.2521C>T (p.Arg841Cys)	AR (R309C +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GPathogenic
Select item 9829	NM_000044.6(AR):c.2522G>A (p.Arg841His)	AR (R309H +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GPathogenic
Select item 9823	NM_000044.6(AR):c.2567G>A (p.Arg856His)	AR (R856H +1 more)	Single nucleotide variant (missense variant)	Kennedy disease +2 more	GPathogenic/Likely pathogenic
Select item 9806	NM_000044.6(AR):c.2599G>A (p.Val867Met)	AR (V335M +1 more)	Single nucleotide variant (missense variant)	Kennedy disease +5 more	GPathogenic
Select item 9850	NM_000044.6(AR):c.2667C>T (p.Ser889=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +2 more	GPathogenic