"Illumina Laboratory Services, Illumina"[submitter] AND "NOBOX"[gene] - ClinVar

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Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359131	NM_001080413.3(NOBOX):c.1991A>G (p.Lys664Arg)	NOBOX (K664R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 911029	NM_001080413.3(NOBOX):c.1980C>G (p.Leu660=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5	GUncertain significance
Select item 359132	NM_001080413.3(NOBOX):c.1938A>G (p.Ser646=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5	GUncertain significance
Select item 359133	NM_001080413.3(NOBOX):c.1900C>A (p.Pro634Thr)	NOBOX (P634T)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 911030	NM_001080413.3(NOBOX):c.1875T>C (p.Phe625=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5	GUncertain significance
Select item 359134	NM_001080413.3(NOBOX):c.1856C>T (p.Pro619Leu)	NOBOX (P619L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GBenign
Select item 911031	NM_001080413.3(NOBOX):c.1849C>T (p.His617Tyr)	NOBOX (H617Y)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 912267	NM_001080413.3(NOBOX):c.1830C>G (p.Phe610Leu)	NOBOX (F610L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 791163	NM_001080413.3(NOBOX):c.1826C>T (p.Pro609Leu)	NOBOX (P609L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +2 more	GConflicting classifications of pathogenicity
Select item 359135	NM_001080413.3(NOBOX):c.1796C>A (p.Pro599His)	NOBOX (P599H)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 716086	NM_001080413.3(NOBOX):c.1775-8C>A	NOBOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 359136	NM_001080413.3(NOBOX):c.1774+11G>A	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GUncertain significance
Select item 359137	NM_001080413.3(NOBOX):c.1751T>G (p.Met584Arg)	NOBOX (M584R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 359138	NM_001080413.3(NOBOX):c.1709C>T (p.Ser570Leu)	NOBOX (S570L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GBenign
Select item 359139	NM_001080413.3(NOBOX):c.1698C>T (p.Ser566=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5	GUncertain significance
Select item 286525	NM_001080413.3(NOBOX):c.1549T>C (p.Phe517Leu)	NOBOX (F517L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 359140	NM_001080413.3(NOBOX):c.1546C>T (p.Pro516Ser)	NOBOX (P516S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 359141	NM_001080413.3(NOBOX):c.1507C>G (p.Leu503Val)	NOBOX (L503V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 908266	NM_001080413.3(NOBOX):c.1483C>A (p.Pro495Thr)	NOBOX (P495T)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GConflicting classifications of pathogenicity
Select item 908267	NM_001080413.3(NOBOX):c.1469+14G>A	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GUncertain significance
Select item 908268	NM_001080413.3(NOBOX):c.1469+13C>T	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GLikely benign
Select item 908269	NM_001080413.3(NOBOX):c.1450T>C (p.Cys484Arg)	NOBOX (C484R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 910207	NM_001080413.3(NOBOX):c.1447C>G (p.Pro483Ala)	NOBOX (P483A)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 138535	NM_001080413.3(NOBOX):c.1444G>A (p.Gly482Ser)	NOBOX (G482S)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 359142	NM_001080413.3(NOBOX):c.1354G>A (p.Asp452Asn)	NOBOX (D452N)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 359143	NM_001080413.3(NOBOX):c.1322C>G (p.Pro441Arg)	NOBOX (P441R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 359144	NM_001080413.3(NOBOX):c.1154+11T>C	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 910208	NM_001080413.3(NOBOX):c.1079G>A (p.Arg360Gln)	NOBOX (R360Q)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GLikely benign
Select item 910209	NM_001080413.3(NOBOX):c.1064G>C (p.Arg355Pro)	NOBOX (R355P)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 1083	NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His)	NOBOX (R355H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911105	NM_001080413.3(NOBOX):c.1048-10C>A	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GUncertain significance
Select item 359145	NM_001080413.3(NOBOX):c.1031G>A (p.Arg344His)	NOBOX (R344H)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 911106	NM_001080413.3(NOBOX):c.908G>A (p.Arg303Gln)	NOBOX (R303Q)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 911107	NM_001080413.3(NOBOX):c.839G>A (p.Arg280His)	NOBOX (R280H)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 911108	NM_001080413.3(NOBOX):c.703T>C (p.Cys235Arg)	NOBOX (C235R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 359146	NM_001080413.3(NOBOX):c.679C>T (p.Arg227Cys)	NOBOX (R227C)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 911109	NM_001080413.3(NOBOX):c.613A>G (p.Lys205Glu)	NOBOX (K205E)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 359147	NM_001080413.3(NOBOX):c.454G>A (p.Gly152Arg)	NOBOX (G152R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 359149	NM_001080413.3(NOBOX):c.362C>G (p.Pro121Arg)	NOBOX (P121R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 359148	NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu)	NOBOX (P121L)	Single nucleotide variant (missense variant)	NOBOX-related condition +2 more	GConflicting classifications of pathogenicity
Select item 167875	NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp)	NOBOX (R117W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 359150	NM_001080413.3(NOBOX):c.293-15G>A	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GBenign
Select item 359151	NM_001080413.3(NOBOX):c.265G>C (p.Val89Leu)	NOBOX (V89L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 359152	NM_001080413.3(NOBOX):c.262C>T (p.Leu88=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 359153	NM_001080413.3(NOBOX):c.211-4G>C	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GUncertain significance
Select item 908329	NM_001080413.3(NOBOX):c.210+11C>T	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GLikely benign
Select item 908330	NM_001080413.3(NOBOX):c.210+7G>C	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GLikely benign
Select item 359154	NM_001080413.3(NOBOX):c.138C>T (p.Tyr46=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5	GLikely benign
Select item 359155	NM_001080413.3(NOBOX):c.131G>T (p.Arg44Leu)	NOBOX (R44L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GBenign/Likely benign
Select item 359156	NM_001080413.3(NOBOX):c.130C>T (p.Arg44Trp)	NOBOX (R44W)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 359157	NM_001080413.3(NOBOX):c.86-8C>T	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GBenign
Select item 359158	NM_001080413.3(NOBOX):c.85+10T>C	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GUncertain significance
Select item 909176	NM_001080413.3(NOBOX):c.68G>A (p.Gly23Asp)	NOBOX (G23D)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GBenign
Select item 359159	NM_001080413.3(NOBOX):c.66T>C (p.Asp22=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 138536	NM_001080413.3(NOBOX):c.42T>C (p.Gly14=)	NOBOX	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

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Items: 55