CMBL[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3146208	NM_138809.4(CMBL):c.713T>C (p.Ile238Thr)	CMBL (I238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512766	NM_138809.4(CMBL):c.650G>A (p.Arg217Gln)	CMBL (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780516	NM_138809.4(CMBL):c.574C>T (p.Gln192Ter)	CMBL (Q192*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2391515	NM_138809.4(CMBL):c.563C>T (p.Ser188Phe)	CMBL (S188F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775222	NM_138809.4(CMBL):c.534T>C (p.Asn178=)	CMBL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2247333	NM_138809.4(CMBL):c.530A>C (p.Glu177Ala)	CMBL (E177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485985	NM_138809.4(CMBL):c.508C>T (p.Pro170Ser)	CMBL (P170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726244	NM_138809.4(CMBL):c.489C>T (p.Asp163=)	CMBL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353361	NM_138809.4(CMBL):c.383T>C (p.Ile128Thr)	CMBL (I128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335339	NM_138809.4(CMBL):c.372G>T (p.Gln124His)	CMBL (Q124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146204	NM_138809.4(CMBL):c.337A>G (p.Ile113Val)	CMBL (I113V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337378	NM_138809.4(CMBL):c.328A>T (p.Ile110Phe)	CMBL (I110F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210579	NM_138809.4(CMBL):c.302G>T (p.Arg101Ile)	CMBL (R101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552224	NM_138809.4(CMBL):c.237T>G (p.Phe79Leu)	CMBL (F79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340528	NM_138809.4(CMBL):c.218C>A (p.Thr73Asn)	CMBL (T73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304728	NM_138809.4(CMBL):c.206A>G (p.Asn69Ser)	CMBL (N69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391174	NM_138809.4(CMBL):c.195G>C (p.Met65Ile)	CMBL (M65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292747	NM_138809.4(CMBL):c.187G>C (p.Ala63Pro)	CMBL (A63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594053	NM_138809.4(CMBL):c.172A>G (p.Asn58Asp)	CMBL (N58D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490286	NM_138809.4(CMBL):c.137T>C (p.Ile46Thr)	CMBL (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146207	NM_138809.4(CMBL):c.67C>T (p.Arg23Cys)	CMBL (R23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146206	NM_138809.4(CMBL):c.67C>A (p.Arg23Ser)	CMBL (R23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265715	NM_138809.4(CMBL):c.67C>G (p.Arg23Gly)	CMBL (R23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146205	NM_138809.4(CMBL):c.65G>A (p.Gly22Asp)	CMBL (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24