"GeneDx"[submitter] AND "LOC100506235"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 1801904	NM_001190274.2(FBXO11):c.160_161insCTCCGCCGCCGCCGCCGCAGC (p.Gln53_Gln54insProProProProProProGln)	FBXO11, LOC100506235	Insertion (non-coding transcript variant)	not provided	GUncertain significance
Select item 1302054	NM_001190274.2(FBXO11):c.137C>G (p.Pro46Arg)	FBXO11, LOC100506235 (P46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368836	NM_001190274.2(FBXO11):c.99_107del (p.32PPQ[1])	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	not provided	GUncertain significance
Select item 2662060	NM_001190274.2(FBXO11):c.97C>T (p.Pro33Ser)	FBXO11, LOC100506235 (P33S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1308251	NM_001190274.2(FBXO11):c.92C>T (p.Pro31Leu)	FBXO11, LOC100506235 (P31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808845	NM_001190274.2(FBXO11):c.31C>T (p.Pro11Ser)	FBXO11, LOC100506235 (P11S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3365143	NM_001190274.2(FBXO11):c.14G>C (p.Arg5Pro)	FBXO11, LOC100506235 (R5P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance