C4551714[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic
Select item 2358	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2 +10 more	GPathogenic
Select item 523503	NM_014014.5(SNRNP200):c.5489-2A>G	SNRNP200	Single nucleotide variant (splice acceptor variant)	Rod-cone dystrophy	GUncertain significance
Select item 523502	NM_014014.5(SNRNP200):c.3133C>A (p.Pro1045Thr)	SNRNP200 (P1045T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 523376	NM_000539.3(RHO):c.891C>G (p.Ser297Arg)	RHO (S297R)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic
Select item 523414	NM_001142800.2(EYS):c.4152del (p.Pro1385fs)	EYS (P1385fs)	Deletion (frameshift variant)	Visual impairment +4 more	GUncertain significance
Select item 866269	NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)	INPP5E (R467C +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 204593	NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	KIAA0586 (R131fs +3 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +6 more	GPathogenic/Likely pathogenic
Select item 2059	NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	GPHN, RDH12 (T155I)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database