"Ambry Genetics"[submitter] AND "AR"[gene] -

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2249245	NM_000044.6(AR):c.101T>A (p.Ile34Asn)	AR (I34N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550429	NM_000044.6(AR):c.127G>C (p.Glu43Gln)	AR (E43Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 958035	NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)	AR	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 422605	NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not provided +6 more	GBenign/Likely benign
Select item 2389041	NM_000044.6(AR):c.179A>T (p.Gln60Leu)	AR, LOC109504725 (Q60L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2388907	NM_000044.6(AR):c.191A>T (p.Gln64Leu)	AR, LOC109504725 (Q64L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611349	NM_000044.6(AR):c.493T>A (p.Ser165Thr)	AR (S165T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543510	NM_000044.6(AR):c.796G>C (p.Asp266His)	AR (D266H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128180	NM_000044.6(AR):c.865G>A (p.Glu289Lys)	AR (E289K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523949	NM_000044.6(AR):c.866A>G (p.Glu289Gly)	AR (E289G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533273	NM_000044.6(AR):c.974T>C (p.Leu325Pro)	AR (L325P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128179	NM_000044.6(AR):c.1024C>T (p.Pro342Ser)	AR (P342S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515300	NM_000044.6(AR):c.1025C>A (p.Pro342Gln)	AR (P342Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309298	NM_000044.6(AR):c.1084C>G (p.Arg362Gly)	AR (R362G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061771	NM_000044.6(AR):c.1223A>G (p.Tyr408Cys)	AR (Y408C)	Single nucleotide variant (missense variant +1 more)	Male infertility +1 more	GUncertain significance
Select item 2469054	NM_000044.6(AR):c.1235C>A (p.Ala412Glu)	AR (A412E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2217128	NM_000044.6(AR):c.1246G>A (p.Gly416Ser)	AR (G416S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555801	NM_000044.6(AR):c.1331G>C (p.Gly444Ala)	AR (G444A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205265	NM_000044.6(AR):c.1364G>A (p.Gly455Asp)	AR (G455D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2943857	NM_000044.6(AR):c.1413C>T (p.Gly471=)	AR	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2242864	NM_000044.6(AR):c.1429G>C (p.Ala477Pro)	AR (A477P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 464790	NM_000044.6(AR):c.1536G>A (p.Val512=)	AR	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3309309	NM_000044.6(AR):c.1954C>G (p.Pro652Ala)	AR (P120A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330120	NM_000044.6(AR):c.2000G>A (p.Gly667Asp)	AR (G667D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2923898	NM_000044.6(AR):c.2017A>G (p.Ile673Val)	AR (I141V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 279689	NM_000044.6(AR):c.2659A>G (p.Met887Val)	AR (M887V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity

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Items: 26