ClinVar for MedGen (Select 82785) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068454	NM_000044.6(AR):c.2201A>G (p.Gln734Arg)	AR (Q202R +2 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GUncertain significance
Select item 2507021	NM_000044.6(AR):c.2317G>A (p.Glu773Lys)	AR (E241K +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GLikely pathogenic
Select item 2442021	NM_000044.6(AR):c.2339G>A (p.Arg780Gln)	AR (R248Q +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GUncertain significance
Select item 1699192	NM_000044.6(AR):c.2056G>C (p.Val686Leu)	AR (V154L +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GLikely pathogenic
Select item 1687240	NM_000044.6(AR):c.667G>A (p.Asp223Asn)	AR (D223N)	Single nucleotide variant (missense variant +1 more)	Partial androgen insensitivity syndrome	GUncertain significance
Select item 1488550	NM_000044.6(AR):c.7G>A (p.Val3Met)	AR (V3M)	Single nucleotide variant (missense variant +1 more)	Partial androgen insensitivity syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1338786	NM_000044.6(AR):c.1616+22263G>A	AR	Single nucleotide variant (intron variant)	Partial androgen insensitivity syndrome	GUncertain significance
Select item 1333500	NM_000044.6(AR):c.2078A>T (p.Asn693Ile)	AR (N161I +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1189467	NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	Androgen resistance syndrome +5 more	GLikely benign
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	GConflicting classifications of pathogenicity
Select item 804018	NM_000044.6(AR):c.528C>A (p.Ser176Arg)	AR (S176R)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 516217	NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	not provided +7 more	GBenign/Likely benign
Select item 492780	NM_000044.6(AR):c.1153G>T (p.Ala385Ser)	AR (A385S)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +4 more	GUncertain significance
Select item 464798	NM_000044.6(AR):c.171GCA[22] (p.Gln80del)	AR, LOC109504725 (Q80del)	Microsatellite (inframe_deletion +1 more)	Partial androgen insensitivity syndrome +5 more	GBenign
Select item 464786	NM_000044.6(AR):c.1370GCG[18] (p.Gly473dup)	AR	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GBenign
Select item 448902	NM_000044.6(AR):c.1768+2T>C	AR	Single nucleotide variant (splice donor variant +1 more)	Partial androgen insensitivity syndrome	GLikely pathogenic
Select item 434265	NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup)	AR	Microsatellite (inframe_insertion +1 more)	Kennedy disease +7 more	GBenign/Likely benign
Select item 434254	NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	Kennedy disease +6 more	GBenign/Likely benign
Select item 422605	NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	Androgen resistance syndrome +5 more	GBenign/Likely benign
Select item 417975	NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	Androgen resistance syndrome +4 more	GUncertain significance
Select item 402390	NM_000044.6(AR):c.173A>T (p.Gln58Leu)	LOC109504725, AR (Q58L)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 290422	NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not specified +4 more	GBenign
Select item 280062	NM_000044.6(AR):c.2314A>C (p.Asn772His)	AR (N772H +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 216890	NM_000044.6(AR):c.1174C>T (p.Pro392Ser)	AR (P392S)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +5 more	GConflicting classifications of pathogenicity
Select item 37084	NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)	GLI2 (D1520N +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 9861	NM_000044.6(AR):c.1937C>A (p.Ala646Asp)	AR (A114D +1 more)	Single nucleotide variant (missense variant)	Male infertility +5 more	GConflicting classifications of pathogenicity
Select item 9860	NM_000044.6(AR):c.2222C>G (p.Ser741Cys)	AR (S209C +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GPathogenic
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 9851	NM_000044.6(AR):c.2449+5G>T	AR	Single nucleotide variant (intron variant)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9847	NM_000044.6(AR):c.2423T>C (p.Met808Thr)	AR (M276T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 9845	NM_000044.6(AR):c.521T>G (p.Leu174Ter)	AR (L174*)	Single nucleotide variant (nonsense +1 more)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9844	NM_000044.6(AR):c.1769-11T>A	AR (C559S)	Single nucleotide variant (missense variant +1 more)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9841	NM_000044.6(AR):c.4G>A (p.Glu2Lys)	AR (E2K)	Single nucleotide variant (missense variant +1 more)	Partial androgen insensitivity syndrome	GPathogenic
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)	Androgen resistance syndrome +2 more	GPathogenic/Likely pathogenic
Select item 9822	NM_000044.6(AR):c.2599G>T (p.Val867Leu)	AR (V335L +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	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 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 9810	NM_000044.6(AR):c.2291A>G (p.Tyr764Cys)	AR (Y232C +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9806	NM_000044.6(AR):c.2599G>A (p.Val867Met)	AR (V335M +1 more)	Single nucleotide variant (missense variant)	AR-related disorder +5 more	GPathogenic

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Links from MedGen

Items: 43