"Ambry Genetics"[submitter] AND "CBR3-AS1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2400734	NM_001236.4(CBR3):c.52G>A (p.Gly18Ser)	CBR3, CBR3-AS1 (G18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260592	NM_001236.4(CBR3):c.118G>A (p.Val40Met)	CBR3-AS1, CBR3 (V40M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274807	NM_001236.4(CBR3):c.153G>C (p.Gln51His)	CBR3-AS1, CBR3 (Q51H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525864	NM_001236.4(CBR3):c.188A>G (p.Asp63Gly)	CBR3, CBR3-AS1 (D63G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611095	NM_001236.4(CBR3):c.270C>A (p.Asn90Lys)	CBR3, CBR3-AS1 (N90K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459068	NM_001236.4(CBR3):c.324G>T (p.Glu108Asp)	CBR3, CBR3-AS1 (E108D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272281	NM_001236.4(CBR3):c.362T>C (p.Met121Thr)	CBR3, CBR3-AS1 (M121T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512801	NM_001236.4(CBR3):c.380C>T (p.Pro127Leu)	CBR3, CBR3-AS1 (P127L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277137	NM_001236.4(CBR3):c.448T>C (p.Cys150Arg)	CBR3-AS1, CBR3 (C150R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289168	NM_001236.4(CBR3):c.596T>G (p.Leu199Trp)	CBR3, CBR3-AS1 (L199W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374011	NM_001236.4(CBR3):c.605C>A (p.Thr202Lys)	CBR3-AS1, CBR3 (T202K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223804	NM_001236.4(CBR3):c.614C>G (p.Ser205Trp)	CBR3-AS1, CBR3 (S205W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283461	NM_001236.4(CBR3):c.674C>T (p.Ala225Val)	CBR3-AS1, CBR3 (A225V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248364	NM_001236.4(CBR3):c.784A>G (p.Thr262Ala)	CBR3-AS1, CBR3 (T262A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance