ClinVar for MedGen (Select 96593) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1442005	NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser)	TNFRSF11A (G199S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1285402	NM_003839.4(TNFRSF11A):c.1544C>A (p.Pro515His)	TNFRSF11A (P501H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1031362	NM_003839.4(TNFRSF11A):c.1703G>A (p.Arg568His)	TNFRSF11A (R554H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1031361	NM_003839.4(TNFRSF11A):c.1370G>A (p.Cys457Tyr)	TNFRSF11A (C443Y +1 more)	Single nucleotide variant (missense variant +1 more)	Familial expansile osteolysis	GUncertain significance
Select item 1030713	NM_003839.4(TNFRSF11A):c.338C>T (p.Ala113Val)	TNFRSF11A (A113V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287370	NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)	TNFRSF11A (K240E +1 more)	Single nucleotide variant (missense variant +1 more)	Osteopetrosis +6 more	GConflicting classifications of pathogenicity
Select item 259183	NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=)	TNFRSF11A	Single nucleotide variant (synonymous variant +1 more)	Bone Paget disease +5 more	GBenign/Likely benign
Select item 208143	NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup)	LOC130062628, TNFRSF11A	Duplication (inframe_insertion)	not provided +2 more	GPathogenic
Select item 6299	NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup)	LOC130062628, TNFRSF11A	Duplication (inframe_insertion)	Familial expansile osteolysis	GLikely pathogenic