Related gene-specific medical variations for Gene (Select 867) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3224655	NM_005188.4(CBL):c.81G>A (p.Gly27=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224653	NM_005188.4(CBL):c.48C>T (p.Gly16=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224645	NM_005188.4(CBL):c.157A>G (p.Lys53Glu)	CBL, LOC130006895 (K53E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3137960	NM_005188.4(CBL):c.71G>T (p.Gly24Val)	CBL, LOC130006895 (G24V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3027325	NM_005188.4(CBL):c.105G>T (p.Pro35=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020677	NM_005188.4(CBL):c.93C>T (p.Asp31=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2913627	NM_005188.4(CBL):c.174G>A (p.Lys58=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2899645	NM_005188.4(CBL):c.32C>A (p.Ala11Asp)	CBL, LOC130006895 (A11D)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2851790	NM_005188.4(CBL):c.114C>G (p.His38Gln)	CBL, LOC130006895 (H38Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2805478	NM_005188.4(CBL):c.37G>A (p.Gly13Ser)	CBL, LOC130006895 (G13S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2789287	NM_005188.4(CBL):c.182A>G (p.Lys61Arg)	CBL, LOC130006895 (K61R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2779607	NM_005188.4(CBL):c.173A>G (p.Lys58Arg)	CBL, LOC130006895 (K58R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2778386	NM_005188.4(CBL):c.158A>G (p.Lys53Arg)	CBL, LOC130006895 (K53R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2760841	NM_005188.4(CBL):c.32C>T (p.Ala11Val)	CBL, LOC130006895 (A11V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2754388	NM_005188.4(CBL):c.141G>A (p.Pro47=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2731985	NM_005188.4(CBL):c.96C>T (p.Ala32=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2726764	NM_005188.4(CBL):c.107ACC[5] (p.His41_His42del)	CBL, LOC130006895	Microsatellite (inframe_deletion)	RASopathy	GUncertain significance
Select item 2721670	NM_005188.4(CBL):c.84C>T (p.Leu28=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2719792	NM_005188.4(CBL):c.49T>C (p.Ser17Pro)	CBL, LOC130006895 (S17P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2716704	NM_005188.4(CBL):c.85A>G (p.Met29Val)	CBL, LOC130006895 (M29V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2716343	NM_005188.4(CBL):c.160A>G (p.Lys54Glu)	CBL, LOC130006895 (K54E)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2699339	NM_005188.4(CBL):c.83T>C (p.Leu28Pro)	CBL, LOC130006895 (L28P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2688721	NM_005188.4(CBL):c.2252-1G>C	CBL	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2680397	NM_005188.4(CBL):c.434C>G (p.Ser145Cys)	CBL (S145C)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2665021	NM_005188.4(CBL):c.195+6902A>G	CBL	Single nucleotide variant (intron variant)	CBL-related disorder	GUncertain significance
Select item 2582415	NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)	CBL (I885T)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 2575960	NM_005188.4(CBL):c.1178T>A (p.Ile393Asn)	CBL (I393N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2573024	NM_005188.4(CBL):c.509C>T (p.Pro170Leu)	CBL (P170L)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 2567305	NM_005188.4(CBL):c.136C>A (p.His46Asn)	CBL, LOC130006895 (H46N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2525642	NM_005188.4(CBL):c.59C>T (p.Ser20Leu)	CBL, LOC130006895 (S20L)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2482600	NM_005188.4(CBL):c.115C>T (p.His39Tyr)	CBL, LOC130006895 (H39Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452996	NM_005188.4(CBL):c.31G>T (p.Ala11Ser)	CBL, LOC130006895 (A11S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2439777	NM_005188.4(CBL):c.1470A>G (p.Gln490=)	CBL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2439776	NM_005188.4(CBL):c.2680G>T (p.Glu894Ter)	CBL (E894*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2439775	NM_005188.4(CBL):c.2659A>G (p.Met887Val)	CBL (M887V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439774	NM_005188.4(CBL):c.*6886G>A	CBL	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2439773	NM_005188.4(CBL):c.1091_1095+4del	CBL	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2414588	NM_005188.4(CBL):c.26C>T (p.Ser9Phe)	CBL, LOC130006895 (S9F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2188734	NM_005188.4(CBL):c.82C>T (p.Leu28Phe)	CBL, LOC130006895 (L28F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2175645	NM_005188.4(CBL):c.117C>T (p.His39=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2170880	NM_005188.4(CBL):c.127C>T (p.Leu43Phe)	CBL, LOC130006895 (L43F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2144546	NM_005188.4(CBL):c.185T>A (p.Leu62His)	CBL, LOC130006895 (L62H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2117185	NM_005188.4(CBL):c.54G>T (p.Gly18=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2084240	NM_005188.4(CBL):c.150G>C (p.Thr50=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2062901	NM_005188.4(CBL):c.143C>T (p.Pro48Leu)	CBL, LOC130006895 (P48L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2041560	NM_005188.4(CBL):c.136C>T (p.His46Tyr)	CBL, LOC130006895 (H46Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2023341	NM_005188.4(CBL):c.102G>A (p.Gln34=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2023193	NM_005188.4(CBL):c.121_129dup (p.Leu43_Ser44insHisHisLeu)	CBL, LOC130006895	Duplication (inframe_insertion)	RASopathy	GUncertain significance
Select item 1982079	NM_005188.4(CBL):c.149C>T (p.Thr50Met)	CBL, LOC130006895 (T50M)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1978970	NM_005188.4(CBL):c.1A>G (p.Met1Val)	CBL, LOC130006895 (M1V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1956420	NM_005188.4(CBL):c.51C>T (p.Ser17=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1941463	NM_005188.4(CBL):c.39C>T (p.Gly13=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1937823	NM_005188.4(CBL):c.106C>A (p.His36Asn)	CBL, LOC130006895 (H36N)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1782288	NM_005188.4(CBL):c.18G>T (p.Lys6Asn)	CBL, LOC130006895 (K6N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1770107	NM_005188.4(CBL):c.132C>T (p.Ser44=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1757658	NM_005188.4(CBL):c.71G>C (p.Gly24Ala)	CBL, LOC130006895 (G24A)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 1756606	NM_005188.4(CBL):c.6C>T (p.Ala2=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1756064	NM_005188.4(CBL):c.68G>C (p.Gly23Ala)	CBL, LOC130006895 (G23A)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1752714	NM_005188.4(CBL):c.121C>T (p.His41Tyr)	CBL, LOC130006895 (H41Y)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1729948	NM_005188.4(CBL):c.32C>G (p.Ala11Gly)	CBL, LOC130006895 (A11G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1700195	NM_005188.4(CBL):c.1007+2T>A	CBL	Single nucleotide variant (splice donor variant)	CBL-related disorder	GLikely pathogenic
Select item 1696465	NM_005188.4(CBL):c.1192C>T (p.His398Tyr)	CBL (H398Y)	Single nucleotide variant (missense variant)	Epilepsy, early-onset	GUncertain significance
Select item 1658189	NM_005188.4(CBL):c.36G>A (p.Gly12=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1631477	NM_005188.4(CBL):c.129C>T (p.Leu43=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1625023	NM_005188.4(CBL):c.108C>T (p.His36=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1618495	NM_005188.4(CBL):c.30G>A (p.Gly10=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1589283	NM_005188.4(CBL):c.60G>C (p.Ser20=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1548648	NM_005188.4(CBL):c.123C>T (p.His41=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1520470	NM_005188.4(CBL):c.127C>A (p.Leu43Ile)	CBL, LOC130006895 (L43I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1516231	NM_005188.4(CBL):c.55G>A (p.Gly19Ser)	CBL, LOC130006895 (G19S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1496821	NM_005188.4(CBL):c.156C>A (p.Asp52Glu)	CBL, LOC130006895 (D52E)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1482039	NM_005188.4(CBL):c.184C>G (p.Leu62Val)	CBL, LOC130006895 (L62V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1470114	NM_005188.4(CBL):c.98T>A (p.Phe33Tyr)	CBL, LOC130006895 (F33Y)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1463879	NM_005188.4(CBL):c.8G>T (p.Gly3Val)	CBL, LOC130006895 (G3V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1445262	NM_005188.4(CBL):c.124C>T (p.His42Tyr)	CBL, LOC130006895 (H42Y)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1430170	NM_005188.4(CBL):c.25T>C (p.Ser9Pro)	CBL, LOC130006895 (S9P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1426449	NM_005188.4(CBL):c.107ACC[11] (p.His39_His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	RASopathy	GUncertain significance
Select item 1409329	NM_005188.4(CBL):c.94G>A (p.Ala32Thr)	CBL, LOC130006895 (A32T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1334224	NM_005188.4(CBL):c.77T>C (p.Ile26Thr)	CBL, LOC130006895 (I26T)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GUncertain significance
Select item 1334223	NM_005188.4(CBL):c.16A>C (p.Lys6Gln)	CBL, LOC130006895 (K6Q)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 1184332	NM_005188.4(CBL):c.444-6862G>A	CBL	Single nucleotide variant (intron variant)	CBL-related disorder	GUncertain significance
Select item 1145334	NM_005188.4(CBL):c.33C>T (p.Ala11=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GLikely benign
Select item 983355	NM_005188.4(CBL):c.2086G>C (p.Glu696Gln)	CBL (E696Q)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 931971	NM_005188.4(CBL):c.680C>G (p.Thr227Ser)	CBL (T227S)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 931865	NM_005188.4(CBL):c.461T>C (p.Leu154Pro)	CBL (L154P)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 931288	NM_005188.4(CBL):c.508C>T (p.Pro170Ser)	CBL (P170S)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 930804	NM_005188.4(CBL):c.2444A>C (p.Glu815Ala)	CBL (E815A)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 928600	NM_005188.4(CBL):c.118C>G (p.His40Asp)	CBL, LOC130006895 (H40D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 863546	NM_005188.4(CBL):c.184C>T (p.Leu62Phe)	CBL, LOC130006895 (L62F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 702491	NM_005188.4(CBL):c.126C>T (p.His42=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 663579	NM_005188.4(CBL):c.108C>G (p.His36Gln)	CBL, LOC130006895 (H36Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 566860	NM_005188.4(CBL):c.40G>A (p.Gly14Ser)	CBL, LOC130006895 (G14S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 544015	NM_005188.4(CBL):c.120C>T (p.His40=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 543993	NM_005188.4(CBL):c.80G>T (p.Gly27Val)	CBL, LOC130006895 (G27V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 543984	NM_005188.4(CBL):c.127_129dup (p.Leu43dup)	CBL, LOC130006895	Duplication (inframe_insertion)	RASopathy	GUncertain significance
Select item 543978	NM_005188.4(CBL):c.23G>A (p.Ser8Asn)	CBL, LOC130006895 (S8N)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 543972	NM_005188.4(CBL):c.43_44delinsCC (p.Ser15Pro)	CBL, LOC130006895 (S15P)	Indel (missense variant)	RASopathy	GUncertain significance
Select item 543968	NM_005188.4(CBL):c.66G>A (p.Ser22=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 523667	NM_005188.4(CBL):c.1099_1101del (p.Gln367del)	CBL (Q367del)	Deletion (inframe_deletion)	CBL-related disorder	GUncertain significance
Select item 513893	NM_005188.4(CBL):c.60G>T (p.Ser20=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign

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