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

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 1290495	NC_000007.14:g.144397037C>T	NOBOX	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1283697	NC_000007.14:g.144397163A>C	NOBOX	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 359131	NM_001080413.3(NOBOX):c.1991A>G (p.Lys664Arg)	NOBOX (K664R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +2 more	GBenign
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 1201840	NM_001080413.3(NOBOX):c.1775-84G>A	NOBOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248530	NM_001080413.3(NOBOX):c.1775-149T>C	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381954	NM_001080413.3(NOBOX):c.1774+18G>A	NOBOX	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 1226872	NM_001080413.3(NOBOX):c.1470-51G>A	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292737	NM_001080413.3(NOBOX):c.1469+163A>G	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138535	NM_001080413.3(NOBOX):c.1444G>A (p.Gly482Ser)	NOBOX (G482S)	Single nucleotide variant (missense variant)	not specified +2 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 1257081	NM_001080413.3(NOBOX):c.1240+34G>A	NOBOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222892	NM_001080413.3(NOBOX):c.1155-23G>A	NOBOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1308604	NM_001080413.3(NOBOX):c.1066C>T (p.Arg356Trp)	NOBOX (R356W)	Single nucleotide variant (missense variant)	not provided	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 167873	NM_001080413.3(NOBOX):c.907C>T (p.Arg303Ter)	NOBOX (R303*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1305107	NM_001080413.3(NOBOX):c.895A>G (p.Ser299Gly)	NOBOX (S299G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 359148	NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu)	NOBOX (P121L)	Single nucleotide variant (missense variant)	not provided +1 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 1290694	NM_001080413.3(NOBOX):c.292+66A>G	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264476	NM_001080413.3(NOBOX):c.292+40C>T	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3367255	NM_001080413.3(NOBOX):c.272G>A (p.Gly91Glu)	NOBOX (G91E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167874	NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp)	NOBOX (G91W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1307604	NM_001080413.3(NOBOX):c.265G>T (p.Val89Leu)	NOBOX (V89L)	Single nucleotide variant (missense variant)	not provided	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 1181868	NM_001080413.3(NOBOX):c.210+265G>A	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198961	NM_001080413.3(NOBOX):c.210+171G>A	NOBOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276072	NM_001080413.3(NOBOX):c.210+147C>T	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274407	NM_001080413.3(NOBOX):c.210+140A>G	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 359155	NM_001080413.3(NOBOX):c.131G>T (p.Arg44Leu)	NOBOX (R44L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1260367	NM_001080413.3(NOBOX):c.85+264G>A	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 359159	NM_001080413.3(NOBOX):c.66T>C (p.Asp22=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5 +2 more	GBenign
Select item 138536	NM_001080413.3(NOBOX):c.42T>C (p.Gly14=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5 +2 more	GBenign
Select item 1222264	NC_000007.14:g.144410460G>A	NOBOX	Single nucleotide variant	not provided	GBenign
Select item 1238493	NC_000007.14:g.144410509T>C	NOBOX	Single nucleotide variant	not provided	GBenign

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Items: 41