867[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 1216256	NC_000011.10:g.119206253C>T	CBL, LOC130006894	Single nucleotide variant	not provided	GLikely benign
Select item 368941	NM_005188.3(CBL):c.-157A>G	CBL, LOC130006894	Single nucleotide variant	Noonan-like syndrome	GLikely benign
Select item 302763	NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG	CBL, FRA11B +1 more	Insertion	not provided +2 more	GUncertain significance
Select item 302762	NM_005188.3(CBL):c.-126_-125insTGGCGG	CBL, FRA11B +1 more	Insertion	Noonan-like syndrome +1 more	GUncertain significance
Select item 302761	NM_005188.3(CBL):c.-127_-125GGC[15]	CBL, FRA11B +1 more	Microsatellite	Noonan-like syndrome	GUncertain significance
Select item 302760	NM_005188.3(CBL):c.-127_-125GGC[14]	CBL, FRA11B +1 more	Microsatellite	Noonan-like syndrome +1 more	GConflicting classifications of pathogenicity
Select item 302759	NM_005188.3(CBL):c.-127_-125GGC[13]	CBL, FRA11B +1 more	Microsatellite	Noonan syndrome and Noonan-related syndrome +2 more	GConflicting classifications of pathogenicity
Select item 302758	NM_005188.3(CBL):c.-127_-125GGC[12]	CBL, FRA11B +1 more	Microsatellite	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1262807	NC_000011.10:g.119206291GGC[10]	CBL, FRA11B +1 more	Microsatellite	not provided	GBenign
Select item 302765	NM_005188.3(CBL):c.-126_-125insTGG	CBL, FRA11B +1 more	Insertion	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302764	NM_005188.3(CBL):c.-127_-125GGC[8]	CBL, FRA11B +1 more	Microsatellite	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302767	NM_005188.3(CBL):c.-125C>T	CBL, FRA11B +1 more	Single nucleotide variant	CBL-related disorder +1 more	GBenign
Select item 302766	NM_005188.4(CBL):c.-125_-116delinsT	CBL, FRA11B +1 more	Indel	Noonan-like syndrome +2 more	GUncertain significance
Select item 302768	NM_005188.3(CBL):c.-124G>T	CBL, FRA11B +1 more	Single nucleotide variant	CBL-related disorder	GUncertain significance
Select item 302769	NM_005188.3(CBL):c.-122C>T	CBL, FRA11B +1 more	Single nucleotide variant	CBL-related disorder +1 more	GUncertain significance
Select item 1214031	NC_000011.10:g.119206302C>T	CBL, FRA11B +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 302770	NM_005188.3(CBL):c.-113C>T	CBL, FRA11B +1 more	Single nucleotide variant	CBL-related disorder	GUncertain significance
Select item 302771	NM_005188.3(CBL):c.-106G>A	CBL, FRA11B +1 more	Single nucleotide variant	CBL-related disorder	GBenign
Select item 3029692	NM_005188.3(CBL):c.-95_-94insGAC	CBL, FRA11B +1 more	Insertion	CBL-related disorder	GUncertain significance
Select item 302772	NM_005188.3(CBL):c.-96G>A	CBL, FRA11B +1 more	Single nucleotide variant	CBL-related disorder +1 more	GBenign/Likely benign
Select item 878914	NM_005188.3(CBL):c.-83C>T	CBL, LOC130006894	Single nucleotide variant	CBL-related disorder	GUncertain significance
Select item 302773	NM_005188.4(CBL):c.-79C>T	CBL, LOC130006894	Single nucleotide variant (5 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 1291108	NM_005188.4(CBL):c.-44AGCCG[3]	CBL	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 302774	NM_005188.4(CBL):c.-41C>T	CBL	Single nucleotide variant (5 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 1262370	NM_005188.4(CBL):c.-26G>C	CBL	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 928886	NM_005188.4(CBL):c.-5A>G	CBL	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1756606	NM_005188.4(CBL):c.6C>T (p.Ala2=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 477714	NM_005188.4(CBL):c.6C>G (p.Ala2=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 1463879	NM_005188.4(CBL):c.8G>T (p.Gly3Val)	CBL, LOC130006895 (G3V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 179790	NM_005188.4(CBL):c.12C>T (p.Asn4=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1334223	NM_005188.4(CBL):c.16A>C (p.Lys6Gln)	CBL, LOC130006895 (K6Q)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	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 543978	NM_005188.4(CBL):c.23G>A (p.Ser8Asn)	CBL, LOC130006895 (S8N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 2414588	NM_005188.4(CBL):c.26C>T (p.Ser9Phe)	CBL, LOC130006895 (S9F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1618495	NM_005188.4(CBL):c.30G>A (p.Gly10=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
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 2899645	NM_005188.4(CBL):c.32C>A (p.Ala11Asp)	CBL, LOC130006895 (A11D)	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 1729948	NM_005188.4(CBL):c.32C>G (p.Ala11Gly)	CBL, LOC130006895 (A11G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1145334	NM_005188.4(CBL):c.33C>T (p.Ala11=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1658189	NM_005188.4(CBL):c.36G>A (p.Gly12=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
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 1941463	NM_005188.4(CBL):c.39C>T (p.Gly13=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
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 302775	NM_005188.4(CBL):c.41G>A (p.Gly14Asp)	CBL, LOC130006895 (G14D)	Single nucleotide variant (missense variant)	CBL-related disorder +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 3224653	NM_005188.4(CBL):c.48C>T (p.Gly16=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
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 1956420	NM_005188.4(CBL):c.51C>T (p.Ser17=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2117185	NM_005188.4(CBL):c.54G>T (p.Gly18=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
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 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 1589283	NM_005188.4(CBL):c.60G>C (p.Ser20=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
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
Select item 543968	NM_005188.4(CBL):c.66G>A (p.Ser22=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1756064	NM_005188.4(CBL):c.68G>C (p.Gly23Ala)	CBL, LOC130006895 (G23A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 1757658	NM_005188.4(CBL):c.71G>C (p.Gly24Ala)	CBL, LOC130006895 (G24A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1334224	NM_005188.4(CBL):c.77T>C (p.Ile26Thr)	CBL, LOC130006895 (I26T)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
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 3224655	NM_005188.4(CBL):c.81G>A (p.Gly27=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2699339	NM_005188.4(CBL):c.83T>C (p.Leu28Pro)	CBL, LOC130006895 (L28P)	Single nucleotide variant (missense variant)	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 2716704	NM_005188.4(CBL):c.85A>G (p.Met29Val)	CBL, LOC130006895 (M29V)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 3263628	NM_005188.4(CBL):c.86T>G (p.Met29Arg)	CBL, LOC130006895 (M29R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3020677	NM_005188.4(CBL):c.93C>T (p.Asp31=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 488171	NM_005188.4(CBL):c.93C>A (p.Asp31Glu)	CBL, LOC130006895 (D31E)	Single nucleotide variant (missense variant)	RASopathy +3 more	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 2731985	NM_005188.4(CBL):c.96C>T (p.Ala32=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
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 2023341	NM_005188.4(CBL):c.102G>A (p.Gln34=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
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 1426449	NM_005188.4(CBL):c.107ACC[11] (p.His39_His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	RASopathy	GUncertain significance
Select item 477693	NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 40400	NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	not specified +7 more	GBenign/Likely benign
Select item 2726764	NM_005188.4(CBL):c.107ACC[5] (p.His41_His42del)	CBL, LOC130006895	Microsatellite (inframe_deletion)	RASopathy	GUncertain significance
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 434591	NM_005188.4(CBL):c.107ACC[4] (p.His40_His42del)	CBL, LOC130006895	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 180808	NM_005188.4(CBL):c.107ACC[6] (p.His42del)	CBL, LOC130006895 (H42del)	Microsatellite (inframe_deletion)	Juvenile myelomonocytic leukemia +2 more	GBenign/Likely benign
Select item 1625023	NM_005188.4(CBL):c.108C>T (p.His36=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	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 2851790	NM_005188.4(CBL):c.114C>G (p.His38Gln)	CBL, LOC130006895 (H38Q)	Single nucleotide variant (missense variant)	RASopathy	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 3338479	NM_005188.4(CBL):c.116A>C (p.His39Pro)	CBL, LOC130006895 (H39P)	Single nucleotide variant (missense variant)	Hereditary cancer	GUncertain significance
Select item 3336021	NM_005188.4(CBL):c.118_129dup (p.Leu43_Ser44insHisHisHisLeu)	CBL, LOC130006895	Duplication (inframe_insertion)	not specified	GUncertain significance

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