Related gene-specific medical variations for Gene (Select 55717) - ClinVar - NCBI

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

Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359598	NM_018117.12(WDR11):c.1370C>T (p.Thr457Met)	WDR11 (T457M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062082	NM_018117.12(WDR11):c.859A>G (p.Thr287Ala)	WDR11 (T287A)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GUncertain significance
Select item 3061804	NM_018117.12(WDR11):c.3220_3223del (p.Asp1074fs)	WDR11 (D1074fs)	Microsatellite (frameshift variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GLikely pathogenic
Select item 2684624	GRCh37/hg19 10q26.12(chr10:122658596-123040478)x3	WDR11	Copy number gain	not provided	GUncertain significance
Select item 2684623	GRCh37/hg19 10q26.12(chr10:122438141-122802506)x3	WDR11	Copy number gain	not provided	GUncertain significance
Select item 2672169	NM_018117.12(WDR11):c.926A>G (p.Asn309Ser)	WDR11 (N309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672168	NM_018117.12(WDR11):c.3571G>A (p.Gly1191Ser)	WDR11 (G1191S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584672	NM_018117.12(WDR11):c.3050T>A (p.Leu1017Gln)	WDR11 (L1017Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GUncertain significance
Select item 1344755	NM_018117.12(WDR11):c.16G>A (p.Val6Met)	WDR11 (V6M)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1340743	GRCh37/hg19 10q26.12(chr10:122366341-122639170)x3	WDR11	Copy number gain	not provided	GUncertain significance
Select item 931103	NM_018117.12(WDR11):c.373C>T (p.Gln125Ter)	WDR11 (Q125*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 68838	NM_018117.12(WDR11):c.1183C>T (p.Arg395Trp)	WDR11 (R395W)	Single nucleotide variant (missense variant)	not provided	Gnot provided