ClinVar for MedGen (Select 75678) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062042	NM_002546.4(TNFRSF11B):c.419_420del (p.Thr140fs)	TNFRSF11B (T140fs)	Deletion (frameshift variant)	Hyperphosphatasemia with bone disease	GLikely pathogenic
Select item 1420847	NM_002546.4(TNFRSF11B):c.97G>A (p.Glu33Lys)	TNFRSF11B (E33K)	Single nucleotide variant (missense variant)	Hyperphosphatasemia with bone disease +1 more	GUncertain significance
Select item 912226	NM_002546.4(TNFRSF11B):c.720A>G (p.Ile240Met)	TNFRSF11B (I240M)	Single nucleotide variant (missense variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 912225	NM_002546.4(TNFRSF11B):c.841G>T (p.Val281Leu)	TNFRSF11B (V281L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 912224	NM_002546.4(TNFRSF11B):c.853A>G (p.Ile285Val)	TNFRSF11B (I285V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 911050	NM_002546.4(TNFRSF11B):c.-10G>A	TNFRSF11B	Single nucleotide variant (5 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 911049	NM_002546.4(TNFRSF11B):c.104C>A (p.Thr35Asn)	TNFRSF11B (T35N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 910995	NM_002546.4(TNFRSF11B):c.*166C>G	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910994	NM_002546.4(TNFRSF11B):c.*213C>T	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910993	NM_002546.4(TNFRSF11B):c.*349T>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910166	NM_002546.4(TNFRSF11B):c.139G>A (p.Gly47Ser)	TNFRSF11B (G47S)	Single nucleotide variant (missense variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910165	NM_002546.4(TNFRSF11B):c.277G>A (p.Val93Ile)	TNFRSF11B (V93I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 910164	NM_002546.4(TNFRSF11B):c.308G>A (p.Arg103His)	TNFRSF11B (R103H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 910163	NM_002546.4(TNFRSF11B):c.332G>A (p.Arg111His)	TNFRSF11B (R111H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 910105	NM_002546.4(TNFRSF11B):c.*412A>G	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910104	NM_002546.4(TNFRSF11B):c.*463T>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910103	NM_002546.4(TNFRSF11B):c.*487T>C	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910102	NM_002546.4(TNFRSF11B):c.*505A>G	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910101	NM_002546.4(TNFRSF11B):c.*609G>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 908220	NM_002546.4(TNFRSF11B):c.621C>T (p.Phe207=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	Hyperphosphatasemia with bone disease +1 more	GConflicting classifications of pathogenicity
Select item 908146	NM_002546.4(TNFRSF11B):c.*799G>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 816653	NM_002546.4(TNFRSF11B):c.884T>C (p.Leu295Pro)	TNFRSF11B (L295P)	Single nucleotide variant (missense variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 802437	NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter)	TNFRSF11B (R333*)	Single nucleotide variant (nonsense)	Hyperphosphatasemia with bone disease	GPathogenic
Select item 794144	NM_002546.4(TNFRSF11B):c.310G>A (p.Val104Met)	TNFRSF11B (V104M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 768257	NM_002546.4(TNFRSF11B):c.558C>T (p.Ser186=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 759904	NM_002546.4(TNFRSF11B):c.840C>T (p.Ser280=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 721186	NM_002546.4(TNFRSF11B):c.841G>A (p.Val281Met)	TNFRSF11B (V281M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 361705	NM_002546.3(TNFRSF11B):c.-311G>T	TNFRSF11B	Single nucleotide variant	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361704	NM_002546.3(TNFRSF11B):c.-284C>T	TNFRSF11B	Single nucleotide variant	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361703	NM_002546.3(TNFRSF11B):c.-257G>T	TNFRSF11B	Single nucleotide variant	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361702	NM_002546.3(TNFRSF11B):c.-223C>T	TNFRSF11B	Single nucleotide variant	not provided +1 more	GBenign
Select item 361701	NM_002546.3(TNFRSF11B):c.-215C>T	TNFRSF11B	Single nucleotide variant	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361700	NM_002546.3(TNFRSF11B):c.-204C>T	TNFRSF11B	Single nucleotide variant	Hyperphosphatasemia with bone disease +1 more	GUncertain significance
Select item 361699	NM_002546.3(TNFRSF11B):c.-191C>G	TNFRSF11B	Single nucleotide variant	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361698	NM_002546.3(TNFRSF11B):c.-99G>A	TNFRSF11B	Single nucleotide variant	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361697	NM_002546.4(TNFRSF11B):c.21C>T (p.Cys7=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 361696	NM_002546.4(TNFRSF11B):c.30+15C>T	TNFRSF11B	Single nucleotide variant (intron variant)	Hyperphosphatasemia with bone disease +1 more	GBenign
Select item 361695	NM_002546.4(TNFRSF11B):c.31-7C>T	TNFRSF11B	Single nucleotide variant (intron variant)	Hyperphosphatasemia with bone disease +1 more	GBenign
Select item 361694	NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	Hyperphosphatasemia with bone disease +1 more	GConflicting classifications of pathogenicity
Select item 361693	NM_002546.4(TNFRSF11B):c.400+5G>A	TNFRSF11B	Single nucleotide variant (intron variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361692	NM_002546.4(TNFRSF11B):c.400+15G>A	TNFRSF11B	Single nucleotide variant (intron variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361691	NM_002546.4(TNFRSF11B):c.699C>A (p.Asn233Lys)	TNFRSF11B (N233K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 361690	NM_002546.4(TNFRSF11B):c.700G>A (p.Ala234Thr)	TNFRSF11B (A234T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 361689	NM_002546.4(TNFRSF11B):c.714G>A (p.Glu238=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	Hyperphosphatasemia with bone disease +1 more	GBenign
Select item 361688	NM_002546.4(TNFRSF11B):c.1150T>C (p.Leu384=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	Hyperphosphatasemia with bone disease +1 more	GBenign
Select item 361687	NM_002546.4(TNFRSF11B):c.*67C>T	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361686	NM_002546.4(TNFRSF11B):c.*207C>G	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361685	NM_002546.4(TNFRSF11B):c.*367G>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease +1 more	GBenign
Select item 361684	NM_002546.4(TNFRSF11B):c.*545T>C	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GLikely benign
Select item 361683	NM_002546.4(TNFRSF11B):c.*583T>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 361682	NM_002546.4(TNFRSF11B):c.*682T>C	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 285282	NM_002546.4(TNFRSF11B):c.729A>T (p.Gln243His)	TNFRSF11B (Q243H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 281427	NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258775	NM_002546.4(TNFRSF11B):c.9C>G (p.Asn3Lys)	TNFRSF11B (N3K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 258774	NM_002546.4(TNFRSF11B):c.817+8A>C	TNFRSF11B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 258773	NM_002546.4(TNFRSF11B):c.768A>G (p.Leu256=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 258772	NM_002546.4(TNFRSF11B):c.400+4C>T	TNFRSF11B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 208809	NM_002546.4(TNFRSF11B):c.226A>C (p.Thr76Pro)	TNFRSF11B (T76P)	Single nucleotide variant (missense variant)	Hyperphosphatasemia with bone disease	GPathogenic
Select item 208808	NC_000008.11:g.(118690580_118696647)_(118950613_118950848)del	SAMD12-AS1, TNFRSF11B	Deletion	Hyperphosphatasemia with bone disease	GPathogenic
Select item 197745	NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	Hyperphosphatasemia with bone disease +2 more	GBenign/Likely benign
Select item 196349	NM_002546.4(TNFRSF11B):c.401-5T>C	TNFRSF11B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 6972	NM_002546.4(TNFRSF11B):c.966_969delinsCTT (p.Asp323fs)	TNFRSF11B (D323fs)	Indel (frameshift variant)	Hyperphosphatasemia with bone disease	GPathogenic
Select item 6971	NM_002546.4(TNFRSF11B):c.349T>C (p.Phe117Leu)	TNFRSF11B (F117L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6970	NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr)	TNFRSF11B (C87Y)	Single nucleotide variant (missense variant)	Hyperphosphatasemia with bone disease	GPathogenic
Select item 6969	NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del)	TNFRSF11B (D182del)	Deletion (inframe_deletion)	Hyperphosphatasemia with bone disease	GPathogenic
Select item 6968	nsv513786	COLEC10, TNFRSF11B	Deletion	Hyperphosphatasemia with bone disease	GPathogenic

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Items: 66