Related gene-specific medical variations for Gene (Select 8792) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2875536	NM_003839.4(TNFRSF11A):c.2T>C (p.Met1Thr)	LOC130062628, TNFRSF11A (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874633	NM_003839.4(TNFRSF11A):c.39G>C (p.Ala13=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851784	NM_003839.4(TNFRSF11A):c.1A>G (p.Met1Val)	LOC130062628, TNFRSF11A (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851193	NM_003839.4(TNFRSF11A):c.20G>A (p.Arg7Gln)	LOC130062628, TNFRSF11A (R7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831649	NM_003839.4(TNFRSF11A):c.21G>C (p.Arg7=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794042	NM_003839.4(TNFRSF11A):c.18_30del (p.Arg7fs)	LOC130062628, TNFRSF11A (R7fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2767008	NM_003839.4(TNFRSF11A):c.17G>T (p.Arg6Leu)	LOC130062628, TNFRSF11A (R6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690242	NM_003839.4(TNFRSF11A):c.781A>G (p.Lys261Glu)	TNFRSF11A (K247E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437132	NM_003839.4(TNFRSF11A):c.1115C>T (p.Pro372Leu)	TNFRSF11A (P358L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127815	NM_003839.4(TNFRSF11A):c.44T>C (p.Leu15Pro)	LOC130062628, TNFRSF11A (L15P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101966	NM_003839.4(TNFRSF11A):c.39GCT[5] (p.Leu17_Cys18insLeu)	LOC130062628, TNFRSF11A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2079979	NM_003839.4(TNFRSF11A):c.24C>T (p.Arg8=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929215	NM_003839.4(TNFRSF11A):c.29C>G (p.Pro10Arg)	LOC130062628, TNFRSF11A (P10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928932	NM_003839.4(TNFRSF11A):c.16C>G (p.Arg6Gly)	LOC130062628, TNFRSF11A (R6G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1917270	NM_003839.4(TNFRSF11A):c.16C>A (p.Arg6=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1911389	NM_003839.4(TNFRSF11A):c.8C>G (p.Pro3Arg)	LOC130062628, TNFRSF11A (P3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911305	NM_003839.4(TNFRSF11A):c.37G>A (p.Ala13Thr)	LOC130062628, TNFRSF11A (A13T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1659707	NM_003839.4(TNFRSF11A):c.46C>T (p.Leu16=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658564	NM_003839.4(TNFRSF11A):c.24C>G (p.Arg8=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460965	NM_003839.4(TNFRSF11A):c.17G>A (p.Arg6Gln)	LOC130062628, TNFRSF11A (R6Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 890490	NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +2 more	GConflicting classifications of pathogenicity
Select item 888783	NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val)	LOC130062628, TNFRSF11A (A5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 888782	NM_003839.4(TNFRSF11A):c.-22G>T	TNFRSF11A, LOC130062628	Single nucleotide variant (5 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327724	NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu)	LOC130062628, TNFRSF11A (P10L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 259179	NM_003839.4(TNFRSF11A):c.1568-43C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 259177	NM_003839.4(TNFRSF11A):c.-39G>A	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis +3 more	GBenign/Likely benign
Select item 208144	NM_003839.4(TNFRSF11A):c.49_63dup (p.Leu17_Leu21dup)	LOC130062628, TNFRSF11A	Duplication (inframe_insertion)	Paget disease of bone 2, early-onset	GPathogenic
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 193260	NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +3 more	GBenign
Select item 193259	NM_003839.4(TNFRSF11A):c.-9T>C	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis +3 more	GBenign/Likely benign
Select item 6300	NM_003839.4(TNFRSF11A):c.39_65dup (p.Leu14_Ala22dup)	LOC130062628, TNFRSF11A	Duplication (inframe_insertion)	not provided	GPathogenic
Select item 6299	NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup)	LOC130062628, TNFRSF11A	Duplication (inframe_insertion)	Familial expansile osteolysis	GLikely pathogenic

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Items: 32