ClinVar for MedGen (Select 481387) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068283	NM_017813.5(BPNT2):c.1007T>C (p.Leu336Pro)	BPNT2 (L336P)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely pathogenic
Select item 3065170	NM_017813.5(BPNT2):c.1001G>A (p.Gly334Glu)	BPNT2 (G334E)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 3064488	NM_017813.5(BPNT2):c.713_714insCTTCCTATGG (p.Arg238fs)	BPNT2 (R238fs)	Insertion (frameshift variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely pathogenic
Select item 1905819	NM_017813.5(BPNT2):c.939del (p.His314fs)	BPNT2 (H314fs)	Deletion (frameshift variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GConflicting classifications of pathogenicity
Select item 1705420	NM_017813.5(BPNT2):c.230_250dup (p.Arg83_Val84insGlyGlyAspGluValArgArg)	BPNT2	Duplication (inframe_insertion)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 1162256	NM_017813.5(BPNT2):c.473_474dup (p.Thr159Ter)	BPNT2 (T159*)	Duplication (nonsense)	Chondrodysplasia with joint dislocations, gPAPP type	GPathogenic
Select item 911600	NM_017813.5(BPNT2):c.-131C>T	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911599	NM_017813.5(BPNT2):c.-16C>T	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911598	NM_017813.5(BPNT2):c.21C>T (p.Arg7=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911597	NM_017813.5(BPNT2):c.138C>T (p.Gly46=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911596	NM_017813.5(BPNT2):c.268C>T (p.Leu90Phe)	BPNT2 (L90F)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911534	NM_017813.5(BPNT2):c.*928G>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911533	NM_017813.5(BPNT2):c.*929A>T	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 910384	NM_017813.5(BPNT2):c.560G>A (p.Arg187Gln)	BPNT2 (R187Q)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type +2 more	GUncertain significance
Select item 910383	NM_017813.5(BPNT2):c.704A>G (p.Lys235Arg)	BPNT2 (K235R)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GUncertain significance
Select item 910382	NM_017813.5(BPNT2):c.738A>G (p.Ser246=)	BPNT2	Single nucleotide variant (synonymous variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 910321	NM_017813.5(BPNT2):c.*1328C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 910320	NM_017813.5(BPNT2):c.*1652T>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
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 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 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 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 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 909437	NM_017813.5(BPNT2):c.954G>A (p.Leu318=)	BPNT2	Single nucleotide variant (synonymous variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909436	NM_017813.5(BPNT2):c.987C>T (p.Asp329=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909435	NM_017813.5(BPNT2):c.1041C>T (p.Val347=)	BPNT2	Single nucleotide variant (synonymous variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GConflicting classifications of pathogenicity
Select item 909357	NM_017813.5(BPNT2):c.*1800G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909356	NM_017813.5(BPNT2):c.*1952C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909355	NM_017813.5(BPNT2):c.*1966A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 909354	NM_017813.5(BPNT2):c.*1996C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 909353	NM_017813.5(BPNT2):c.*2005G>A	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 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 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 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 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 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 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 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 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 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 908579	NM_017813.5(BPNT2):c.*106G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908578	NM_017813.5(BPNT2):c.*133C>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908577	NM_017813.5(BPNT2):c.*447C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908576	NM_017813.5(BPNT2):c.*461G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908575	NM_017813.5(BPNT2):c.*553A>G	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908506	NM_017813.5(BPNT2):c.*2009C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908505	NM_017813.5(BPNT2):c.*2047T>C	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 908504	NM_017813.5(BPNT2):c.*2058C>T	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 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 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 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 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 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 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 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 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 632027	NM_017813.5(BPNT2):c.551-2A>G	BPNT2	Single nucleotide variant (splice acceptor variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363417	NM_017813.5(BPNT2):c.-279T>C	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363416	NM_017813.5(BPNT2):c.-274G>C	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363415	NM_017813.5(BPNT2):c.-252G>C	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363414	NM_017813.5(BPNT2):c.-169C>T	LOC130000433, BPNT2	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GBenign
Select item 363413	NM_017813.5(BPNT2):c.-155C>G	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363412	NM_017813.5(BPNT2):c.-146A>C	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely benign
Select item 363411	NM_017813.5(BPNT2):c.-125C>T	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GBenign
Select item 363409	NM_017813.5(BPNT2):c.336G>A (p.Leu112=)	BPNT2	Single nucleotide variant (synonymous variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GConflicting classifications of pathogenicity
Select item 363408	NM_017813.5(BPNT2):c.355T>C (p.Tyr119His)	BPNT2 (Y119H)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363407	NM_017813.5(BPNT2):c.652G>T (p.Ala218Ser)	BPNT2 (A218S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 363406	NM_017813.5(BPNT2):c.687C>T (p.Arg229=)	BPNT2	Single nucleotide variant (synonymous variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363405	NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu)	BPNT2 (K286E)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GBenign
Select item 363404	NM_017813.5(BPNT2):c.939G>A (p.Gly313=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 363403	NM_017813.5(BPNT2):c.964G>A (p.Glu322Lys)	BPNT2 (E322K)	Single nucleotide variant (missense variant)	BPNT2-related condition +2 more	GBenign/Likely benign
Select item 363402	NM_017813.5(BPNT2):c.988G>A (p.Gly330Ser)	BPNT2 (G330S)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GUncertain significance
Select item 363401	NM_017813.5(BPNT2):c.*14C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363400	NM_017813.5(BPNT2):c.*70G>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363399	NM_017813.5(BPNT2):c.*147C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363397	NM_017813.5(BPNT2):c.*358G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GBenign
Select item 363396	NM_017813.5(BPNT2):c.*396A>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance

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