Related gene-specific medical variations for Gene (Select 873) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263653	NM_001757.4(CBR1):c.16C>G (p.His6Asp)	CBR1, CBR1-AS1 +1 more (H6D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138027	NM_001757.4(CBR1):c.757T>A (p.Tyr253Asn)	CBR1, CBR1-AS1 (Y253N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138026	NM_001757.4(CBR1):c.730C>T (p.Pro244Ser)	CBR1, CBR1-AS1 (P244S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138025	NM_001757.4(CBR1):c.590C>T (p.Thr197Met)	CBR1, CBR1-AS1 (T197M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138024	NM_001757.4(CBR1):c.505G>C (p.Val169Leu)	CBR1, CBR1-AS1 (V169L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138023	NM_001757.4(CBR1):c.325G>T (p.Val109Leu)	CBR1, CBR1-AS1 (V109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138022	NM_001757.4(CBR1):c.146A>G (p.Gln49Arg)	CBR1, CBR1-AS1 +1 more (Q49R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2622577	NM_001757.4(CBR1):c.124C>G (p.Arg42Gly)	CBR1, CBR1-AS1 +1 more (R42G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2600231	NM_001757.4(CBR1):c.823G>A (p.Glu275Lys)	CBR1, CBR1-AS1 (E275K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2557412	NM_001757.4(CBR1):c.155C>T (p.Ala52Val)	CBR1, CBR1-AS1 +1 more (A52V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2487638	NM_001757.4(CBR1):c.625G>A (p.Ala209Thr)	CBR1, CBR1-AS1 (A209T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2458498	NM_001757.4(CBR1):c.241T>G (p.Tyr81Asp)	CBR1, CBR1-AS1 (Y81D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2402605	NM_001757.4(CBR1):c.242A>G (p.Tyr81Cys)	CBR1, CBR1-AS1 (Y81C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2359279	NM_001757.4(CBR1):c.767T>C (p.Leu256Pro)	CBR1, CBR1-AS1 (L256P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341672	NM_001757.4(CBR1):c.182A>C (p.Gln61Pro)	CBR1, CBR1-AS1 +1 more (Q61P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2339592	NM_001757.4(CBR1):c.691G>A (p.Val231Met)	CBR1, CBR1-AS1 (V231M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2338072	NM_001757.4(CBR1):c.794A>G (p.His265Arg)	CBR1, CBR1-AS1 (H265R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2316840	NM_001757.4(CBR1):c.356G>A (p.Arg119Gln)	CBR1, CBR1-AS1 (R119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302554	NM_001757.4(CBR1):c.661A>G (p.Ile221Val)	CBR1, CBR1-AS1 (I221V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2293549	NM_001757.4(CBR1):c.764C>T (p.Ala255Val)	CBR1, CBR1-AS1 (A255V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2274717	NM_001757.4(CBR1):c.331A>G (p.Met111Val)	CBR1, CBR1-AS1 (M111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211224	NM_001757.4(CBR1):c.475C>T (p.Arg159Cys)	CBR1, CBR1-AS1 (R159C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 721199	NM_001757.4(CBR1):c.583G>A (p.Gly195Arg)	CBR1, CBR1-AS1 (G195R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 714831	NM_001757.4(CBR1):c.591G>A (p.Thr197=)	CBR1, CBR1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Links from Gene

Items: 24