ClinVar for MedGen (Select 436770) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574148	NM_003839.4(TNFRSF11A):c.239G>A (p.Trp80Ter)	TNFRSF11A (W80*)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 2572028	NM_003839.4(TNFRSF11A):c.443A>T (p.Asp148Val)	TNFRSF11A (D148V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive osteopetrosis 7	GLikely pathogenic
Select item 2500800	NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)	TNFRSF11A (R110fs)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 7	GLikely pathogenic
Select item 2444185	NM_003839.4(TNFRSF11A):c.54C>A (p.Cys18Ter)	TNFRSF11A (C18*)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 1878547	NM_003839.4(TNFRSF11A):c.240G>T (p.Trp80Cys)	TNFRSF11A (W80C)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7	GUncertain significance
Select item 1684671	NM_003839.4(TNFRSF11A):c.1530dup (p.Ser511fs)	TNFRSF11A (S497fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 1684670	NM_003839.4(TNFRSF11A):c.380G>A (p.Cys127Tyr)	TNFRSF11A (C127Y)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7	GLikely pathogenic
Select item 1684669	NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn)	TNFRSF11A (K49N)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7	GLikely pathogenic
Select item 1442005	NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser)	TNFRSF11A (G199S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1064753	NC_000018.10:g.60033942_60033993del		Deletion	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 1030714	NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile)	TNFRSF11A (T275I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 892547	NM_003839.4(TNFRSF11A):c.*1301G>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 892546	NM_003839.4(TNFRSF11A):c.*1269G>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GBenign
Select item 892488	NM_003839.4(TNFRSF11A):c.*633C>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GLikely benign
Select item 892431	NM_003839.4(TNFRSF11A):c.*126C>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 891660	NM_003839.4(TNFRSF11A):c.*2590A>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GBenign
Select item 891659	NM_003839.4(TNFRSF11A):c.*2564A>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891414	NM_003839.4(TNFRSF11A):c.*2537G>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GBenign
Select item 891413	NM_003839.4(TNFRSF11A):c.*2490A>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GBenign
Select item 891412	NM_003839.4(TNFRSF11A):c.*2289G>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891411	NM_003839.4(TNFRSF11A):c.*2173A>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GBenign
Select item 891352	NM_003839.4(TNFRSF11A):c.*1211C>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891351	NM_003839.4(TNFRSF11A):c.*1185C>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891350	NM_003839.4(TNFRSF11A):c.*1178T>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891349	NM_003839.4(TNFRSF11A):c.*1060C>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GConflicting classifications of pathogenicity
Select item 891291	NM_003839.4(TNFRSF11A):c.*633C>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891290	NM_003839.4(TNFRSF11A):c.*625A>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891289	NM_003839.4(TNFRSF11A):c.*502G>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891240	NM_003839.4(TNFRSF11A):c.*93G>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891239	NM_003839.4(TNFRSF11A):c.1847C>T (p.Ala616Val)	TNFRSF11A (A337V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 891238	NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro)	TNFRSF11A (L281P +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 891182	NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile)	TNFRSF11A (F340I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 891049	NM_003839.4(TNFRSF11A):c.284-4G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 891048	NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp)	TNFRSF11A (R45W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 890490	NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	Autosomal recessive osteopetrosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 889870	NM_003839.4(TNFRSF11A):c.*2086G>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GLikely benign
Select item 889869	NM_003839.4(TNFRSF11A):c.*2077G>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GLikely benign
Select item 889868	NM_003839.4(TNFRSF11A):c.*1913A>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GBenign
Select item 889867	NM_003839.4(TNFRSF11A):c.*1908T>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 889745	NM_003839.4(TNFRSF11A):c.*464T>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 889744	NM_003839.4(TNFRSF11A):c.*447C>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 889677	NM_003839.4(TNFRSF11A):c.1567+7G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 889188	NM_003839.4(TNFRSF11A):c.*1810G>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GBenign
Select item 889187	NM_003839.4(TNFRSF11A):c.*1738C>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GBenign/Likely benign
Select item 889186	NM_003839.4(TNFRSF11A):c.*1624G>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GBenign
Select item 889185	NM_003839.4(TNFRSF11A):c.*1416C>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 889184	NM_003839.4(TNFRSF11A):c.*1368C>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 889112	NM_003839.4(TNFRSF11A):c.*759C>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 889057	NM_003839.4(TNFRSF11A):c.*440C>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 889056	NM_003839.4(TNFRSF11A):c.*423G>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 889055	NM_003839.4(TNFRSF11A):c.*420G>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 889054	NM_003839.4(TNFRSF11A):c.*322C>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 889053	NM_003839.4(TNFRSF11A):c.*320G>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 888989	NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=)	TNFRSF11A	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 888936	NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser)	TNFRSF11A (G251S +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +2 more	GUncertain significance
Select item 888935	NM_003839.4(TNFRSF11A):c.784-5G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 888934	NM_003839.4(TNFRSF11A):c.731-11G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888933	NM_003839.4(TNFRSF11A):c.730+6G>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 888869	NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=)	TNFRSF11A	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	not provided +2 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 781416	NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp)	TNFRSF11A (R436W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive osteopetrosis 7 +3 more	GBenign/Likely benign
Select item 724616	NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +2 more	GConflicting classifications of pathogenicity
Select item 713429	NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn)	TNFRSF11A (D413N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 327759	NM_003839.4(TNFRSF11A):c.*1231A>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327757	NM_003839.4(TNFRSF11A):c.*938T>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GLikely benign
Select item 327756	NM_003839.4(TNFRSF11A):c.*811T>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 327755	NM_003839.4(TNFRSF11A):c.*751C>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 327754	NM_003839.4(TNFRSF11A):c.*705G>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327753	NM_003839.4(TNFRSF11A):c.*693T>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327751	NM_003839.4(TNFRSF11A):c.*634C>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GBenign
Select item 327748	NM_003839.4(TNFRSF11A):c.*556A>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327747	NM_003839.4(TNFRSF11A):c.*501G>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327746	NM_003839.4(TNFRSF11A):c.*454T>G	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327741	NM_003839.4(TNFRSF11A):c.*223G>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327740	NM_003839.4(TNFRSF11A):c.*214G>A	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327739	NM_003839.4(TNFRSF11A):c.*125T>C	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 7 +1 more	GUncertain significance
Select item 327738	NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val)	TNFRSF11A (M540V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 2, early-onset +3 more	GUncertain significance
Select item 327736	NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His)	TNFRSF11A (R466H +1 more)	Single nucleotide variant (intron variant +1 more)	Autosomal recessive osteopetrosis 7 +2 more	GBenign/Likely benign
Select item 327735	NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=)	TNFRSF11A	Single nucleotide variant (synonymous variant +1 more)	TNFRSF11A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 327734	NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=)	TNFRSF11A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 327733	NM_003839.4(TNFRSF11A):c.555T>C (p.His185=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 327732	NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser)	TNFRSF11A (R181S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 327731	NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg)	TNFRSF11A (G179R +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 327730	NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met)	TNFRSF11A (T166M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7 +2 more	GUncertain significance
Select item 327728	NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 327727	NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys)	TNFRSF11A (E132K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 327726	NM_003839.4(TNFRSF11A):c.284-5C>T	TNFRSF11A	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 7 +2 more	GBenign/Likely benign
Select item 327725	NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln)	TNFRSF11A (R23Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 327724	NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu)	LOC130062628, TNFRSF11A (P10L)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7 +3 more	GUncertain significance
Select item 289665	NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 287597	NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=)	TNFRSF11A	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 282061	NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile)	TNFRSF11A (V209I +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +3 more	GBenign
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 193260	NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=)	LOC130062628, TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 6305	NM_003839.4(TNFRSF11A):c.157G>C (p.Gly53Arg)	TNFRSF11A (G53R)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 6304	NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser)	TNFRSF11A (A244S +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 6303	NM_003839.4(TNFRSF11A):c.385C>T (p.Arg129Cys)	TNFRSF11A (R129C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6302	NM_003839.4(TNFRSF11A):c.523T>C (p.Cys175Arg)	TNFRSF11A (C175R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7	GPathogenic

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