ClinVar (all) for Orgtrack (Select 505453) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225172	NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter)	CTNNB1 (H720* +1 more)	Duplication (nonsense)	Exudative vitreoretinopathy 7 +1 more	GPathogenic
Select item 225171	NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys)	CTNNB1 (R710C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225170	NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs)	CTNNB1, LOC126806659 (E472fs +1 more)	Insertion (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome +1 more	GPathogenic
Select item 192239	NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter)	DRAM2 (W165* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 192238	NM_001349884.2(DRAM2):c.131G>A (p.Ser44Asn)	DRAM2 (S44N)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GPathogenic
Select item 192237	NM_001349884.2(DRAM2):c.362A>T (p.His121Leu)	DRAM2 (H121L +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GPathogenic
Select item 192236	NM_001349884.2(DRAM2):c.217_225del (p.Val73_Tyr75del)	DRAM2	Deletion (inframe_deletion +3 more)	Retinal dystrophy	GPathogenic
Select item 192235	NM_001349884.2(DRAM2):c.79T>C (p.Tyr27His)	DRAM2 (Y27H)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GPathogenic
Select item 192234	NM_001349884.2(DRAM2):c.61GCT[1] (p.Ala22del)	DRAM2 (A22del)	Microsatellite (inframe_deletion +2 more)	Retinal dystrophy	GPathogenic
Select item 192233	NM_001349884.2(DRAM2):c.140del (p.Gly47fs)	DRAM2 (G47fs)	Deletion (frameshift variant +2 more)	Retinal dystrophy	GPathogenic