C0039585[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1488550	NM_000044.6(AR):c.7G>A (p.Val3Met)	AR (V3M)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +5 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)	Hypospadias 1, X-linked +5 more	GLikely 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 516217	NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	AR-related condition +7 more	GBenign/Likely benign
Select item 464798	NM_000044.6(AR):c.171GCA[22] (p.Gln80del)	AR, LOC109504725 (Q80del)	Microsatellite (inframe_deletion +1 more)	Androgen resistance syndrome +5 more	GBenign
Select item 434254	NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del)	AR, LOC109504725	Microsatellite (inframe_deletion +1 more)	Androgen resistance syndrome +6 more	GBenign/Likely benign
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 804018	NM_000044.6(AR):c.528C>A (p.Ser176Arg)	AR (S176R)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +6 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 434265	NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup)	AR	Microsatellite (inframe_insertion +1 more)	AR-related condition +7 more	GBenign/Likely benign
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