"GeneDx"[submitter] AND "TNFRSF11A"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	LOC130062661, LOC130062662 +340 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	ADNP2, ALPK2 +572 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 259177	NM_003839.4(TNFRSF11A):c.-39G>A	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Bone Paget disease +3 more	GBenign/Likely benign
Select item 193259	NM_003839.4(TNFRSF11A):c.-9T>C	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Bone Paget disease +3 more	GBenign/Likely benign
Select item 1288097	NM_003839.4(TNFRSF11A):c.76-194G>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1276240	NM_003839.4(TNFRSF11A):c.284-120T>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285823	NM_003839.4(TNFRSF11A):c.428-106C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235919	NM_003839.4(TNFRSF11A):c.522-257G>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253093	NM_003839.4(TNFRSF11A):c.522-183T>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259181	NM_003839.4(TNFRSF11A):c.522-39T>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 259180	NM_003839.4(TNFRSF11A):c.522-17C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 259182	NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val)	TNFRSF11A (A192V +1 more)	Single nucleotide variant (missense variant)	Bone Paget disease +4 more	GBenign/Likely benign
Select item 1227150	NM_003839.4(TNFRSF11A):c.616+79G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220751	NM_003839.4(TNFRSF11A):c.616+166G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278941	NM_003839.4(TNFRSF11A):c.617-258A>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242922	NM_003839.4(TNFRSF11A):c.617-151G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222378	NM_003839.4(TNFRSF11A):c.617-92G>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269703	NM_003839.4(TNFRSF11A):c.730+191T>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251777	NM_003839.4(TNFRSF11A):c.730+212G>C	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251196	NM_003839.4(TNFRSF11A):c.730+255A>G	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282272	NM_003839.4(TNFRSF11A):c.730+266G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291123	NM_003839.4(TNFRSF11A):c.783+283C>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	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 1306451	NM_003839.4(TNFRSF11A):c.1193G>A (p.Gly398Asp)	TNFRSF11A (G384D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817702	NM_003839.4(TNFRSF11A):c.1266_1268delinsCC (p.Leu422fs)	TNFRSF11A (L408fs +1 more)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 452153	NM_003839.4(TNFRSF11A):c.1317C>A (p.Ser439Arg)	TNFRSF11A (S439R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1421170	NM_003839.4(TNFRSF11A):c.1396C>T (p.Arg466Cys)	TNFRSF11A (R452C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1259093	NM_003839.4(TNFRSF11A):c.1568-96G>A	TNFRSF11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259178	NM_003839.4(TNFRSF11A):c.1568-42G>T	TNFRSF11A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 593949	NM_003839.4(TNFRSF11A):c.1696A>T (p.Met566Leu)	TNFRSF11A (M566L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 432502	NM_003839.4(TNFRSF11A):c.1796G>A (p.Arg599Gln)	TNFRSF11A (R599Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1482885	NM_003839.4(TNFRSF11A):c.1805A>G (p.Glu602Gly)	TNFRSF11A (E588G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TNFRSF11A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253575	GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	SOCS6, SERPINB10 +58 more	Copy number gain	See cases	GPathogenic
Select item 253425	GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1	CDH19, CDH7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 40