Related gene-specific medical variations for Gene (Select 874) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263654	NM_001236.4(CBR3):c.256G>A (p.Val86Ile)	CBR3, CBR3-AS1 (V86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138037	NM_001236.4(CBR3):c.820G>A (p.Val274Met)	CBR3, CBR3-AS1 (V274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138036	NM_001236.4(CBR3):c.815A>G (p.Lys272Arg)	CBR3, CBR3-AS1 (K272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138035	NM_001236.4(CBR3):c.631C>T (p.Arg211Cys)	CBR3, CBR3-AS1 (R211C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138034	NM_001236.4(CBR3):c.5C>G (p.Ser2Trp)	CBR3, CBR3-AS1 (S2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138033	NM_001236.4(CBR3):c.547G>A (p.Val183Met)	CBR3, CBR3-AS1 (V183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138032	NM_001236.4(CBR3):c.541A>C (p.Asn181His)	CBR3, CBR3-AS1 (N181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138031	NM_001236.4(CBR3):c.50T>C (p.Ile17Thr)	CBR3, CBR3-AS1 (I17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138030	NM_001236.4(CBR3):c.364T>A (p.Cys122Ser)	CBR3, CBR3-AS1 (C122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138029	NM_001236.4(CBR3):c.161G>A (p.Gly54Asp)	CBR3, CBR3-AS1 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138028	NM_001236.4(CBR3):c.106A>C (p.Thr36Pro)	CBR3, CBR3-AS1 (T36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611095	NM_001236.4(CBR3):c.270C>A (p.Asn90Lys)	CBR3, CBR3-AS1 (N90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525864	NM_001236.4(CBR3):c.188A>G (p.Asp63Gly)	CBR3, CBR3-AS1 (D63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512801	NM_001236.4(CBR3):c.380C>T (p.Pro127Leu)	CBR3, CBR3-AS1 (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459068	NM_001236.4(CBR3):c.324G>T (p.Glu108Asp)	CBR3, CBR3-AS1 (E108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400734	NM_001236.4(CBR3):c.52G>A (p.Gly18Ser)	CBR3, CBR3-AS1 (G18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374011	NM_001236.4(CBR3):c.605C>A (p.Thr202Lys)	CBR3, CBR3-AS1 (T202K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2283461	NM_001236.4(CBR3):c.674C>T (p.Ala225Val)	CBR3, CBR3-AS1 (A225V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2277137	NM_001236.4(CBR3):c.448T>C (p.Cys150Arg)	CBR3, CBR3-AS1 (C150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274807	NM_001236.4(CBR3):c.153G>C (p.Gln51His)	CBR3, CBR3-AS1 (Q51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272281	NM_001236.4(CBR3):c.362T>C (p.Met121Thr)	CBR3, CBR3-AS1 (M121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260592	NM_001236.4(CBR3):c.118G>A (p.Val40Met)	CBR3, CBR3-AS1 (V40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248364	NM_001236.4(CBR3):c.784A>G (p.Thr262Ala)	CBR3, CBR3-AS1 (T262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223804	NM_001236.4(CBR3):c.614C>G (p.Ser205Trp)	CBR3, CBR3-AS1 (S205W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 816163	GRCh37/hg19 21q22.12(chr21:37445791-37509955)x1	CBR3	Copy number loss	not provided	GLikely benign
Select item 773089	NM_001236.4(CBR3):c.370G>A (p.Glu124Lys)	CBR3, CBR3-AS1 (E124K)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 27