"GeneDx"[submitter] AND "LOC109504725"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 151774	GRCh38/hg38 Xq12(chrX:67532311-68353901)x1	AR, LOC109504725 +2 more	Copy number loss	See cases	GPathogenic
Select item 2580093	NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGln)	LOC109504725, AR	Insertion (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 1200448	NM_000044.6(AR):c.171GCA[34] (p.Gln70_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
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 1168151	NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not provided +2 more	GBenign
Select item 507868	NM_000044.6(AR):c.171GCA[30] (p.Gln74_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	Androgen resistance syndrome +2 more	GBenign/Likely benign
Select item 464797	NM_000044.6(AR):c.171GCA[26] (p.Gln78_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 464795	NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup)	LOC109504725, AR	Microsatellite (inframe_insertion +1 more)	not specified +3 more	GBenign
Select item 464794	NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup)	LOC109504725, AR	Microsatellite (inframe_insertion +1 more)	Kennedy disease +2 more	GBenign/Likely benign
Select item 464788	NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln)	AR, LOC109504725	Insertion (inframe_insertion +1 more)	Androgen resistance syndrome +2 more	GConflicting classifications of pathogenicity
Select item 434257	NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not specified +3 more	GBenign/Likely benign
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 420189	NM_000044.6(AR):c.171GCA[33] (p.Gln71_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 290422	NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	not provided +4 more	GBenign
Select item 1276845	NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GBenign
Select item 533380	NM_000044.6(AR):c.171GCA[15] (p.Gln73_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	Androgen resistance syndrome +2 more	GBenign/Likely benign
Select item 516217	NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	Androgen resistance syndrome +6 more	GLikely benign
Select item 509114	NM_000044.6(AR):c.171GCA[12] (p.Gln70_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 464798	NM_000044.6(AR):c.171GCA[22] (p.Gln80del)	AR, LOC109504725 (Q80del)	Microsatellite (inframe_deletion +1 more)	Kennedy disease +5 more	GBenign
Select item 464796	NM_000044.6(AR):c.171GCA[19] (p.Gln77_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	Kennedy disease +2 more	GBenign
Select item 434262	NM_000044.6(AR):c.171GCA[16] (p.Gln74_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	Androgen resistance syndrome +3 more	GBenign/Likely benign
Select item 434254	NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	Hypospadias 1, X-linked +6 more	GBenign/Likely benign
Select item 418806	NM_000044.6(AR):c.171GCA[17] (p.Gln75_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	not specified +3 more	GBenign/Likely benign
Select item 210223	NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1298367	NM_000044.6(AR):c.175C>T (p.Gln59Ter)	AR, LOC109504725 (Q59*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 279683	NM_000044.6(AR):c.220C>T (p.Gln74Ter)	LOC109504725, AR (Q74*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1257319	NM_000044.6(AR):c.231_232insGCAGCAGCA (p.Gln77_Gln78insAlaAlaAla)	AR, LOC109504725	Insertion (inframe_insertion +1 more)	not provided	GBenign

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Items: 29