ClinVar for MedGen (Select 356171) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3600225	NM_002335.4(LRP5):c.3237-11C>A	LRP5	Single nucleotide variant (intron variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600224	NM_002335.4(LRP5):c.3056G>A (p.Gly1019Asp)	LRP5 (G438D +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600223	NM_002335.4(LRP5):c.3028C>G (p.Pro1010Ala)	LRP5 (P1010A +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600222	NM_002335.4(LRP5):c.2990G>A (p.Arg997His)	LRP5 (R997H +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600221	NM_002335.4(LRP5):c.2983G>T (p.Asp995Tyr)	LRP5 (D995Y +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600220	NM_002335.4(LRP5):c.2979G>C (p.Trp993Cys)	LRP5 (W412C +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600219	NM_002335.4(LRP5):c.2975A>G (p.Tyr992Cys)	LRP5 (Y992C +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600218	NM_002335.4(LRP5):c.2973C>G (p.Ile991Met)	LRP5 (I410M +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600217	NM_002335.4(LRP5):c.2827+2dup	LRP5	Duplication (splice donor variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600216	NM_002335.4(LRP5):c.2800C>G (p.Leu934Val)	LRP5 (L353V +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600214	NM_002335.4(LRP5):c.2731G>A (p.Gly911Arg)	LRP5 (G330R +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600212	NM_002335.4(LRP5):c.2626G>A (p.Gly876Ser)	LRP5 (G295S +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GLikely pathogenic
Select item 3600211	NM_002335.4(LRP5):c.2529C>G (p.Asp843Glu)	LRP5 (D843E +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600210	NM_002335.4(LRP5):c.2503+4A>C	LRP5	Single nucleotide variant (intron variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600209	NM_002335.4(LRP5):c.2332A>G (p.Thr778Ala)	LRP5 (T197A +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600208	NM_002335.4(LRP5):c.2275G>A (p.Asp759Asn)	LRP5 (D178N +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600207	NM_002335.4(LRP5):c.2171C>T (p.Ala724Val)	LRP5 (A143V +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600206	NM_002335.4(LRP5):c.2090A>T (p.Lys697Met)	LRP5 (K116M +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600205	NM_002335.4(LRP5):c.2083A>G (p.Ser695Gly)	LRP5 (S695G +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600204	NM_002335.4(LRP5):c.1921A>T (p.Ile641Phe)	LRP5 (I60F +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600203	NM_002335.4(LRP5):c.1850T>G (p.Phe617Cys)	LRP5 (F36C +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600202	NM_002335.4(LRP5):c.1783A>C (p.Asn595His)	LRP5 (N595H)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600201	NM_002335.4(LRP5):c.1730G>A (p.Ser577Asn)	LRP5 (S577N)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600200	NM_002335.4(LRP5):c.1705G>A (p.Glu569Lys)	LRP5 (E569K)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600199	NM_002335.4(LRP5):c.1694G>A (p.Arg565His)	LRP5 (R565H)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600198	NM_002335.4(LRP5):c.1633C>A (p.Leu545Ile)	LRP5 (L545I)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600197	NM_002335.4(LRP5):c.1616C>T (p.Thr539Ile)	LRP5 (T539I)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600195	NM_002335.4(LRP5):c.1405G>A (p.Val469Met)	LRP5 (V469M)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600194	NM_002335.4(LRP5):c.1356C>G (p.Ile452Met)	LRP5 (I452M)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600192	NM_002335.4(LRP5):c.1293C>G (p.Tyr431Ter)	LRP5 (Y431*)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GLikely pathogenic
Select item 3600191	NM_002335.4(LRP5):c.1264G>A (p.Ala422Thr)	LRP5 (A422T)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GLikely pathogenic
Select item 3600190	NM_002335.4(LRP5):c.1154G>A (p.Gly385Asp)	LRP5 (G385D)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600189	NM_002335.4(LRP5):c.1075A>G (p.Thr359Ala)	LRP5 (T359A)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600188	NM_002335.4(LRP5):c.1050G>A (p.Thr350=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600187	NM_002335.4(LRP5):c.1023G>C (p.Glu341Asp)	LRP5 (E341D)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600186	NM_002335.4(LRP5):c.1015+4A>G	LRP5	Single nucleotide variant (intron variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600185	NM_002335.4(LRP5):c.997G>T (p.Gly333Cys)	LRP5 (G333C)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600184	NM_002335.4(LRP5):c.979G>A (p.Val327Met)	LRP5 (V327M)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600183	NM_002335.4(LRP5):c.892C>T (p.Arg298Cys)	LRP5 (R298C)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600181	NM_002335.4(LRP5):c.718_735dup (p.Leu245_Ser246insProPheAlaLeuThrLeu)	LRP5	Duplication (5 prime UTR variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600180	NM_002335.4(LRP5):c.359A>G (p.Lys120Arg)	LRP5 (K120R)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600179	NM_002335.4(LRP5):c.340G>A (p.Ala114Thr)	LRP5 (A114T)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600178	NM_002335.4(LRP5):c.321G>A (p.Leu107=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600177	NM_002335.4(LRP5):c.316G>A (p.Gly106Ser)	LRP5 (G106S)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600176	NM_002335.4(LRP5):c.249C>A (p.Ser83Arg)	LRP5 (S83R)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600175	NM_002335.4(LRP5):c.212A>G (p.Gln71Arg)	LRP5 (Q71R)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600174	NM_002335.4(LRP5):c.151G>A (p.Val51Ile)	LRP5 (V51I)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600173	NM_002335.4(LRP5):c.92C>G (p.Ala31Gly)	LRP5 (A31G)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600172	NM_002335.4(LRP5):c.91+16C>T	LRP5	Single nucleotide variant (intron variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3600171	NM_002335.4(LRP5):c.60_61insCTGGCG (p.Leu20_Ala21insLeuAla)	LRP5	Insertion (5 prime UTR variant)	Osteoporosis with pseudoglioma +5 more	GUncertain significance
Select item 3573947	NM_002335.4(LRP5):c.4799A>C (p.Tyr1600Ser)	LRP5 (Y1019S +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573946	NM_002335.4(LRP5):c.4714C>T (p.Pro1572Ser)	LRP5 (P991S +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573945	NM_002335.4(LRP5):c.4658G>A (p.Ser1553Asn)	LRP5 (S972N +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573944	NM_002335.4(LRP5):c.4594A>G (p.Ile1532Val)	LRP5 (I1532V +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573943	NM_002335.4(LRP5):c.4358G>A (p.Cys1453Tyr)	LRP5 (C1453Y +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573942	NM_002335.4(LRP5):c.4351A>G (p.Ile1451Val)	LRP5 (I870V +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573941	NM_002335.4(LRP5):c.4300C>T (p.Pro1434Ser)	LRP5 (P1434S +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573940	NM_002335.4(LRP5):c.4294C>T (p.His1432Tyr)	LRP5 (H1432Y +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573939	NM_002335.4(LRP5):c.4250G>T (p.Gly1417Val)	LRP5 (G1417V +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573937	NM_002335.4(LRP5):c.4231G>A (p.Val1411Met)	LRP5 (V1411M +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573936	NM_002335.4(LRP5):c.4191_4192dup (p.Phe1398fs)	LRP5 (F817fs +1 more)	Microsatellite (frameshift variant)	Bone mineral density quantitative trait locus 1 +5 more	GLikely pathogenic
Select item 3573935	NM_002335.4(LRP5):c.4175G>T (p.Gly1392Val)	LRP5 (G1392V +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573934	NM_002335.4(LRP5):c.4141C>G (p.Pro1381Ala)	LRP5 (P800A +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573933	NM_002335.4(LRP5):c.4130C>T (p.Ser1377Leu)	LRP5 (S1377L +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573931	NM_002335.4(LRP5):c.4042T>C (p.Cys1348Arg)	LRP5 (C1348R +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573928	NM_002335.4(LRP5):c.3784G>A (p.Asp1262Asn)	LRP5 (D1262N +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573927	NM_002335.4(LRP5):c.3783G>C (p.Pro1261=)	LRP5	Single nucleotide variant (synonymous variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573926	NM_002335.4(LRP5):c.3731T>A (p.Leu1244His)	LRP5 (L1244H +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573925	NM_002335.4(LRP5):c.3709C>T (p.Arg1237Trp)	LRP5 (R656W +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GLikely pathogenic
Select item 3573924	NM_002335.4(LRP5):c.3604C>T (p.His1202Tyr)	LRP5 (H1202Y +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573923	NM_002335.4(LRP5):c.3538G>A (p.Val1180Met)	LRP5 (V1180M +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3573922	NM_002335.4(LRP5):c.3331C>G (p.Leu1111Val)	LRP5 (L1111V +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3392495	NM_002335.4(LRP5):c.884-3C>G	LRP5	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 1 +5 more	GUncertain significance
Select item 3391020	NM_002335.4(LRP5):c.592A>C (p.Asn198His)	LRP5 (N198H)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4	GLikely pathogenic
Select item 3382244	NM_002335.4(LRP5):c.4479del (p.Tyr1494fs)	LRP5 (Y1494fs +1 more)	Deletion (frameshift variant)	Exudative vitreoretinopathy 4	GPathogenic
Select item 3380033	NM_002335.4(LRP5):c.2713G>A (p.Asp905Asn)	LRP5 (D324N +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +6 more	GUncertain significance
Select item 3250483	NM_002335.4(LRP5):c.3915C>A (p.Cys1305Ter)	LRP5 (C1305* +1 more)	Single nucleotide variant (nonsense)	Exudative vitreoretinopathy 4	GPathogenic
Select item 2977998	NM_002335.4(LRP5):c.3286G>A (p.Ala1096Thr)	LRP5 (A515T +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2970495	NM_002335.4(LRP5):c.292G>A (p.Ala98Thr)	LRP5 (A98T)	Single nucleotide variant (5 prime UTR variant +1 more)	Bone mineral density quantitative trait locus 1 +6 more	GUncertain significance
Select item 2969130	NM_002335.4(LRP5):c.4111+3G>A	LRP5	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 1 +6 more	GUncertain significance
Select item 2968589	NM_002335.4(LRP5):c.3459C>T (p.Asn1153=)	LRP5	Single nucleotide variant (synonymous variant)	Bone mineral density quantitative trait locus 1 +6 more	GConflicting classifications of pathogenicity
Select item 2966291	NM_002335.4(LRP5):c.4360G>A (p.Gly1454Arg)	LRP5 (G1454R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2963553	NM_002335.4(LRP5):c.946G>A (p.Glu316Lys)	LRP5 (E316K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +6 more	GUncertain significance
Select item 2960686	NM_002335.4(LRP5):c.2273G>A (p.Arg758Lys)	LRP5 (R177K +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2956959	NM_002335.4(LRP5):c.4488+18G>T	LRP5	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 1 +6 more	GConflicting classifications of pathogenicity
Select item 2920629	NM_002335.4(LRP5):c.301A>T (p.Asn101Tyr)	LRP5 (N101Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4	GUncertain significance
Select item 2880153	NM_002335.4(LRP5):c.1111G>A (p.Asp371Asn)	LRP5 (D371N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +6 more	GUncertain significance
Select item 2877328	NM_002335.4(LRP5):c.893G>T (p.Arg298Leu)	LRP5 (R298L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +6 more	GUncertain significance
Select item 2804211	NM_002335.4(LRP5):c.4528C>G (p.Leu1510Val)	LRP5 (L929V +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +6 more	GUncertain significance
Select item 2801204	NM_002335.4(LRP5):c.3385G>A (p.Val1129Met)	LRP5 (V1129M +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2799167	NM_002335.4(LRP5):c.4228_4242dup (p.Arg1414_Tyr1415insValValCysGlnArg)	LRP5	Duplication (inframe_insertion)	not provided +6 more	GUncertain significance
Select item 2777156	NM_002335.4(LRP5):c.4814C>T (p.Pro1605Leu)	LRP5 (P1024L +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +6 more	GUncertain significance
Select item 2716814	NM_002335.4(LRP5):c.229G>A (p.Val77Met)	LRP5 (V77M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +6 more	GUncertain significance
Select item 2662031	NM_002335.4(LRP5):c.3266G>A (p.Arg1089Gln)	LRP5 (R1089Q +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +6 more	GUncertain significance
Select item 2642041	NM_002335.4(LRP5):c.1532A>C (p.Asp511Ala)	LRP5 (D511A)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 2605060	NM_002335.4(LRP5):c.4408G>A (p.Val1470Met)	LRP5 (V889M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 2572422	NM_002335.4(LRP5):c.440G>A (p.Trp147Ter)	LRP5 (W147*)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4	GLikely pathogenic
Select item 2572377	NM_002335.4(LRP5):c.853C>T (p.Gln285Ter)	LRP5 (Q285*)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4	GLikely pathogenic
Select item 2418974	NM_002335.4(LRP5):c.3328G>A (p.Gly1110Ser)	LRP5 (G1110S +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +6 more	GUncertain significance
Select item 2414703	NM_002335.4(LRP5):c.95C>T (p.Ser32Leu)	LRP5 (S32L)	Single nucleotide variant (5 prime UTR variant +1 more)	Bone mineral density quantitative trait locus 1 +6 more	GUncertain significance

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