"GeneDx"[submitter] AND "LOC130006894"[gene] - ClinVar - NCBI

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Items: 11

	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 1216256	NC_000011.10:g.119206253C>T	CBL, LOC130006894	Single nucleotide variant	not provided	GLikely benign
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 1214031	NC_000011.10:g.119206302C>T	CBL, FRA11B +1 more	Single nucleotide variant	not provided	GLikely benign
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