BPNT2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363320	NM_017813.5(BPNT2):c.*5821C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363321	NM_017813.5(BPNT2):c.*5804G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 910249	NM_017813.5(BPNT2):c.*5803C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 910250	NM_017813.5(BPNT2):c.*5797C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 910251	NM_017813.5(BPNT2):c.*5786T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363322	NM_017813.5(BPNT2):c.*5752G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363323	NM_017813.5(BPNT2):c.*5730A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 910252	NM_017813.5(BPNT2):c.*5692A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363324	NM_017813.5(BPNT2):c.*5689dup	BPNT2	Duplication (3 prime UTR variant)	Chondrodysplasia	GLikely benign
Select item 363325	NM_017813.5(BPNT2):c.*5634A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 910253	NM_017813.5(BPNT2):c.*5607C>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363326	NM_017813.5(BPNT2):c.*5512T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363327	NM_017813.5(BPNT2):c.*5505A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363328	NM_017813.5(BPNT2):c.*5492G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 363329	NM_017813.5(BPNT2):c.*5463G>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363330	NM_017813.5(BPNT2):c.*5395A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911141	NM_017813.5(BPNT2):c.*5354A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911142	NM_017813.5(BPNT2):c.*5339T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363331	NM_017813.5(BPNT2):c.*5327C>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363332	NM_017813.5(BPNT2):c.*5302C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 363333	NM_017813.5(BPNT2):c.*5300G>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911346	NM_017813.5(BPNT2):c.*5289C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363334	NM_017813.5(BPNT2):c.*5203A>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363335	NM_017813.5(BPNT2):c.*5193A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911347	NM_017813.5(BPNT2):c.*5160C>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363336	NM_017813.5(BPNT2):c.*5142G>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363337	NM_017813.5(BPNT2):c.*5014A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363338	NM_017813.5(BPNT2):c.*4973G>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 908364	NM_017813.5(BPNT2):c.*4971C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908365	NM_017813.5(BPNT2):c.*4913G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363339	NM_017813.5(BPNT2):c.*4890C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 908366	NM_017813.5(BPNT2):c.*4873G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363340	NM_017813.5(BPNT2):c.*4845A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908367	NM_017813.5(BPNT2):c.*4638T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908368	NM_017813.5(BPNT2):c.*4589A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909214	NM_017813.5(BPNT2):c.*4501T>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 363341	NM_017813.5(BPNT2):c.*4496C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909215	NM_017813.5(BPNT2):c.*4434C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363342	NM_017813.5(BPNT2):c.*4430A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 909216	NM_017813.5(BPNT2):c.*4403T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909217	NM_017813.5(BPNT2):c.*4366G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909218	NM_017813.5(BPNT2):c.*4331G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909219	NM_017813.5(BPNT2):c.*4315C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 363343	NM_017813.5(BPNT2):c.*4264G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911216	NM_017813.5(BPNT2):c.*4251T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911217	NM_017813.5(BPNT2):c.*4250A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363344	NM_017813.5(BPNT2):c.*4209G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363345	NM_017813.5(BPNT2):c.4123_4125del	BPNT2	Deletion (3 prime UTR variant)	Chondrodysplasia	GLikely benign
Select item 911218	NM_017813.5(BPNT2):c.*4102A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911219	NM_017813.5(BPNT2):c.*4098G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911220	NM_017813.5(BPNT2):c.*4037T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911221	NM_017813.5(BPNT2):c.*3957C>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911409	NM_017813.5(BPNT2):c.*3927T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911410	NM_017813.5(BPNT2):c.*3922C>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363346	NM_017813.5(BPNT2):c.*3876T>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363347	NM_017813.5(BPNT2):c.*3811GTCT[1]	BPNT2	Microsatellite (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 911411	NM_017813.5(BPNT2):c.*3805C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363348	NM_017813.5(BPNT2):c.*3739C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911412	NM_017813.5(BPNT2):c.*3704A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 911413	NM_017813.5(BPNT2):c.*3679A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363349	NM_017813.5(BPNT2):c.*3673A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363350	NM_017813.5(BPNT2):c.*3653C>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908434	NM_017813.5(BPNT2):c.*3637C>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 908435	NM_017813.5(BPNT2):c.*3619A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908436	NM_017813.5(BPNT2):c.*3505T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908437	NM_017813.5(BPNT2):c.*3408A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363351	NM_017813.5(BPNT2):c.*3258T>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363352	NM_017813.5(BPNT2):c.*3235A>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363353	NM_017813.5(BPNT2):c.*3204A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363354	NM_017813.5(BPNT2):c.*3193T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909282	NM_017813.5(BPNT2):c.*3173C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909283	NM_017813.5(BPNT2):c.*3060T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909284	NM_017813.5(BPNT2):c.*3054C>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363355	NM_017813.5(BPNT2):c.*2993C>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363356	NM_017813.5(BPNT2):c.*2825C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363357	NM_017813.5(BPNT2):c.*2726T>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909285	NM_017813.5(BPNT2):c.*2674G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363358	NM_017813.5(BPNT2):c.*2649C>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911278	NM_017813.5(BPNT2):c.*2631A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 911279	NM_017813.5(BPNT2):c.*2630A>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363359	NM_017813.5(BPNT2):c.*2608A>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363360	NM_017813.5(BPNT2):c.*2607C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911280	NM_017813.5(BPNT2):c.*2544G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911281	NM_017813.5(BPNT2):c.*2512T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363361	NM_017813.5(BPNT2):c.*2508T>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 911477	NM_017813.5(BPNT2):c.*2475T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363362	NM_017813.5(BPNT2):c.*2458G>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363363	NM_017813.5(BPNT2):c.*2444A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363364	NM_017813.5(BPNT2):c.*2417C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363365	NM_017813.5(BPNT2):c.*2382A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363366	NM_017813.5(BPNT2):c.*2320ATA[1]	BPNT2	Microsatellite (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363367	NM_017813.5(BPNT2):c.*2288G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363368	NM_017813.5(BPNT2):c.*2190G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 363369	NM_017813.5(BPNT2):c.*2181G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911478	NM_017813.5(BPNT2):c.*2166G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363370	NM_017813.5(BPNT2):c.*2165C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363371	NM_017813.5(BPNT2):c.*2149G>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 363372	NM_017813.5(BPNT2):c.*2141T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363373	NM_017813.5(BPNT2):c.*2138A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363374	NM_017813.5(BPNT2):c.*2088A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance

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