C0423110[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523383	NM_000969.5(RPL5):c.74-1G>C	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	Atrial septal defect +16 more	GPathogenic
Select item 224122	NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)	RIT1 (K23Q +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 8 +7 more	GConflicting classifications of pathogenicity
Select item 411584	NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1, SYNGAP1-AS1 (R687*)	Single nucleotide variant (nonsense)	Pointed chin +15 more	GPathogenic/Likely pathogenic
Select item 13978	NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	BRAF (E501G +7 more)	Single nucleotide variant (missense variant)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 13271	NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	FGFR2 (S347C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +25 more	GPathogenic/Likely pathogenic
Select item 17326	NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	COL1A1 (G593S)	Single nucleotide variant (missense variant)	Skeletal dysplasia +28 more	GPathogenic/Likely pathogenic
Select item 523272	GRCh37/hg19 22q11.21(chr22:18900000-20500000)	DGCR2, DGCR6L +29 more	Copy number gain	Pedal edema +3 more	GUncertain significance
Select item 523544	NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA	COL4A5	Deletion	Hematuria +3 more	GPathogenic
Select item 11823	NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	MECP2 (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Lubs type +15 more	GPathogenic/Likely pathogenic