TNFRSF11A[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 597

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1376870	NM_003839.4(TNFRSF11A):c.51C>G (p.Leu17=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010498	NM_003839.4(TNFRSF11A):c.52T>C (p.Cys18Arg)	TNFRSF11A (C18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1354508	NM_003839.4(TNFRSF11A):c.54C>G (p.Cys18Trp)	TNFRSF11A (C18W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523255	NM_003839.4(TNFRSF11A):c.56C>T (p.Ala19Val)	TNFRSF11A (A19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998348	NM_003839.4(TNFRSF11A):c.59T>G (p.Leu20Arg)	TNFRSF11A (L20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969805	NM_003839.4(TNFRSF11A):c.61C>G (p.Leu21Val)	TNFRSF11A (L21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717974	NM_003839.4(TNFRSF11A):c.61C>T (p.Leu21Phe)	TNFRSF11A (L21F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969209	NM_003839.4(TNFRSF11A):c.68G>T (p.Arg23Leu)	TNFRSF11A (R23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 327725	NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln)	TNFRSF11A (R23Q)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7 +2 more	GUncertain significance
Select item 2704994	NM_003839.4(TNFRSF11A):c.75+4A>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915483	NM_003839.4(TNFRSF11A):c.75+4A>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 193258	NM_003839.4(TNFRSF11A):c.75+5G>A	TNFRSF11A	Single nucleotide variant (intron variant)	Osteopetrosis +3 more	GBenign/Likely benign
Select item 2785541	NM_003839.4(TNFRSF11A):c.75+9C>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546502	NM_003839.4(TNFRSF11A):c.75+10G>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996886	NM_003839.4(TNFRSF11A):c.75+16G>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629099	NM_003839.4(TNFRSF11A):c.75+17C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670108	NM_003839.4(TNFRSF11A):c.75+18C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 499515	NM_003839.4(TNFRSF11A):c.75+18C>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1288097	NM_003839.4(TNFRSF11A):c.76-194G>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2813574	NM_003839.4(TNFRSF11A):c.76-18C>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1465330	NM_003839.4(TNFRSF11A):c.76-4_83dup	TNFRSF11A	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 1560449	NM_003839.4(TNFRSF11A):c.76-8C>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988790	NM_003839.4(TNFRSF11A):c.76G>A (p.Val26Met)	TNFRSF11A (V26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010982	NM_003839.4(TNFRSF11A):c.90C>A (p.Ile30=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389275	NM_003839.4(TNFRSF11A):c.91G>A (p.Ala31Thr)	TNFRSF11A (A31T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2311595	NM_003839.4(TNFRSF11A):c.94C>T (p.Pro32Ser)	TNFRSF11A (P32S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2999585	NM_003839.4(TNFRSF11A):c.95C>T (p.Pro32Leu)	TNFRSF11A (P32L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038076	NM_003839.4(TNFRSF11A):c.95C>G (p.Pro32Arg)	TNFRSF11A (P32R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967764	NM_003839.4(TNFRSF11A):c.98C>T (p.Pro33Leu)	TNFRSF11A (P33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667035	NM_003839.4(TNFRSF11A):c.99A>G (p.Pro33=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659995	NM_003839.4(TNFRSF11A):c.102T>C (p.Cys34=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091436	NM_003839.4(TNFRSF11A):c.104C>T (p.Thr35Ile)	TNFRSF11A (T35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065345	NM_003839.4(TNFRSF11A):c.104C>G (p.Thr35Ser)	TNFRSF11A (T35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367544	NM_003839.4(TNFRSF11A):c.109G>A (p.Glu37Lys)	TNFRSF11A (E37K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721888	NM_003839.4(TNFRSF11A):c.114G>C (p.Lys38Asn)	TNFRSF11A (K38N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430126	NM_003839.4(TNFRSF11A):c.121G>A (p.Glu41Lys)	TNFRSF11A (E41K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1965137	NM_003839.4(TNFRSF11A):c.124C>T (p.His42Tyr)	TNFRSF11A (H42Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810414	NM_003839.4(TNFRSF11A):c.126T>C (p.His42=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1446865	NM_003839.4(TNFRSF11A):c.134G>A (p.Arg45Gln)	TNFRSF11A (R45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621727	NM_003839.4(TNFRSF11A):c.135G>C (p.Arg45=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118865	NM_003839.4(TNFRSF11A):c.137G>A (p.Cys46Tyr)	TNFRSF11A (C46Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411914	NM_003839.4(TNFRSF11A):c.145A>G (p.Lys49Glu)	TNFRSF11A (K49E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 6305	NM_003839.4(TNFRSF11A):c.157G>C (p.Gly53Arg)	TNFRSF11A (G53R)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 1427756	NM_003839.4(TNFRSF11A):c.157+4C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2811013	NM_003839.4(TNFRSF11A):c.157+8T>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1222200	NM_003839.4(TNFRSF11A):c.157+60T>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263481	NM_003839.4(TNFRSF11A):c.157+268G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2818605	NM_003839.4(TNFRSF11A):c.158-19T>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961327	NM_003839.4(TNFRSF11A):c.158-16C>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920432	NM_003839.4(TNFRSF11A):c.158-15C>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827784	NM_003839.4(TNFRSF11A):c.162G>A (p.Lys54=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408133	NM_003839.4(TNFRSF11A):c.162G>T (p.Lys54Asn)	TNFRSF11A (K54N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1533673	NM_003839.4(TNFRSF11A):c.174T>A (p.Ser58=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815948	NM_003839.4(TNFRSF11A):c.181A>G (p.Thr61Ala)	TNFRSF11A (T61A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515700	NM_003839.4(TNFRSF11A):c.194A>G (p.Asp65Gly)	TNFRSF11A (D65G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861246	NM_003839.4(TNFRSF11A):c.195_196delinsAC (p.Asp65_Ser66delinsGluArg)	TNFRSF11A	Indel (missense variant)	not provided	GUncertain significance
Select item 2709685	NM_003839.4(TNFRSF11A):c.196A>G (p.Ser66Gly)	TNFRSF11A (S66G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692986	NM_003839.4(TNFRSF11A):c.202T>C (p.Cys68Arg)	TNFRSF11A (C68R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125229	NM_003839.4(TNFRSF11A):c.215G>A (p.Gly72Asp)	TNFRSF11A (G72D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948715	NM_003839.4(TNFRSF11A):c.218C>T (p.Pro73Leu)	TNFRSF11A (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486947	NM_003839.4(TNFRSF11A):c.219G>A (p.Pro73=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007563	NM_003839.4(TNFRSF11A):c.228C>T (p.Tyr76=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101995	NM_003839.4(TNFRSF11A):c.231G>A (p.Leu77=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3180232	NM_003839.4(TNFRSF11A):c.266A>G (p.His89Arg)	TNFRSF11A (H89R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1914660	NM_003839.4(TNFRSF11A):c.268A>G (p.Lys90Glu)	TNFRSF11A (K90E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363866	NM_003839.4(TNFRSF11A):c.275G>T (p.Cys92Phe)	TNFRSF11A (C92F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1103713	NM_003839.4(TNFRSF11A):c.283+8C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736550	NM_003839.4(TNFRSF11A):c.283+9G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665486	NM_003839.4(TNFRSF11A):c.283+11C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846038	NM_003839.4(TNFRSF11A):c.283+13T>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276240	NM_003839.4(TNFRSF11A):c.284-120T>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1587798	NM_003839.4(TNFRSF11A):c.284-18G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818150	NM_003839.4(TNFRSF11A):c.284-17T>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765606	NM_003839.4(TNFRSF11A):c.284-14C>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2179392	NM_003839.4(TNFRSF11A):c.287A>G (p.Lys96Arg)	TNFRSF11A (K96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574388	NM_003839.4(TNFRSF11A):c.294G>C (p.Leu98=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928095	NM_003839.4(TNFRSF11A):c.295G>A (p.Val99Met)	TNFRSF11A (V99M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779438	NM_003839.4(TNFRSF11A):c.296T>C (p.Val99Ala)	TNFRSF11A (V99A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3327494	NM_003839.4(TNFRSF11A):c.307G>A (p.Ala103Thr)	TNFRSF11A (A103T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2116512	NM_003839.4(TNFRSF11A):c.310G>A (p.Gly104Ser)	TNFRSF11A (G104S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937595	NM_003839.4(TNFRSF11A):c.320C>T (p.Thr107Met)	TNFRSF11A (T107M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197220	NM_003839.4(TNFRSF11A):c.321G>A (p.Thr107=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2500800	NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)	TNFRSF11A (R110fs)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 7	GLikely pathogenic
Select item 1520204	NM_003839.4(TNFRSF11A):c.323C>T (p.Thr108Ile)	TNFRSF11A (T108I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089251	NM_003839.4(TNFRSF11A):c.324C>T (p.Thr108=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614332	NM_003839.4(TNFRSF11A):c.324C>A (p.Thr108=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588712	NM_003839.4(TNFRSF11A):c.327C>G (p.Pro109=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 197221	NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2790532	NM_003839.4(TNFRSF11A):c.328C>T (p.Arg110Trp)	TNFRSF11A (R110W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717316	NM_003839.4(TNFRSF11A):c.329G>A (p.Arg110Gln)	TNFRSF11A (R110Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987644	NM_003839.4(TNFRSF11A):c.333C>G (p.Arg111=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504431	NM_003839.4(TNFRSF11A):c.336C>T (p.Cys112=)	TNFRSF11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961871	NM_003839.4(TNFRSF11A):c.337G>A (p.Ala113Thr)	TNFRSF11A (A113T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 6