ClinVar for MedGen (Select 902184) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068943	NM_007363.5(NONO):c.332_348+280del	NONO	Deletion (splice donor variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 3024253	NM_007363.5(NONO):c.809G>T (p.Arg270Leu)	NONO (R181L +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 34	GUncertain significance
Select item 2429175	NM_007363.5(NONO):c.276_288del (p.Lys92fs)	NONO (K3fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 1805981	NM_007363.5(NONO):c.298_307del (p.Ala100fs)	NONO (A100fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 1704653	NM_007363.5(NONO):c.154+1GT[2]	NONO	Microsatellite (splice donor variant +1 more)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 1700215	NM_007363.5(NONO):c.201_202dup (p.Lys68fs)	NONO (K68fs)	Microsatellite (frameshift variant +1 more)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 1700214	NM_007363.5(NONO):c.279_282del (p.Phe94fs)	NONO (F5fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 1679353	NM_007363.5(NONO):c.1242del (p.Gly415fs)	NONO (G326fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 1596235	NM_007363.5(NONO):c.154+11G>C	NONO	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1526229	NM_007363.5(NONO):c.315_318del (p.His106fs)	NONO (H106fs +1 more)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 1341844	NM_007363.5(NONO):c.107C>T (p.Pro36Leu)	NONO (P36L)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 34	GUncertain significance
Select item 1319296	NM_007363.5(NONO):c.81_95del (p.23HHQQQ[1])	NONO	Deletion (inframe_deletion +1 more)	Syndromic X-linked intellectual disability 34 +1 more	GUncertain significance
Select item 1217289	NM_007363.5(NONO):c.322_348+280del	NONO	Deletion (splice donor variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 873448	NM_007363.5(NONO):c.651-1G>C	NONO	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 833999	NM_007363.5(NONO):c.457C>T (p.Arg153Ter)	NONO (R64* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 812179	NM_007363.5(NONO):c.1191_1192del (p.Asn397fs)	NONO (N308fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 807452	NM_007363.5(NONO):c.107del (p.Pro36fs)	NONO (P36fs)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 691621	NM_007363.5(NONO):c.550C>T (p.Arg184Ter)	NONO (R184* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 438778	NM_007363.5(NONO):c.731dup (p.Asn244fs)	NONO (N155fs +1 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 427778	NM_007363.5(NONO):c.1171G>T (p.Gly391Cys)	NONO (G391C +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 235099	NM_007363.5(NONO):c.1171+1G>T	NONO	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 222083	NM_007363.5(NONO):c.1093C>T (p.Arg365Ter)	NONO (R365* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 222082	NM_007363.5(NONO):c.1394dup (p.Asn466fs)	NONO (N377fs +1 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 222081	NM_007363.5(NONO):c.1131G>A (p.Ala377=)	NONO	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GPathogenic

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Items: 24