"Illumina Laboratory Services, Illumina"[submitter] AND "LRP4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 878832	NM_002334.4(LRP4):c.*2252G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 304824	NM_002334.4(LRP4):c.*2212C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304825	NM_002334.4(LRP4):c.*2104C>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GLikely benign
Select item 304826	NM_002334.4(LRP4):c.*2082dup	LRP4, LRP4-AS1	Duplication (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878834	NM_002334.4(LRP4):c.*2080T>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 879413	NM_002334.4(LRP4):c.*2054C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GLikely benign
Select item 304827	NM_002334.4(LRP4):c.1825_1826del	LRP4, LRP4-AS1	Deletion (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GLikely benign
Select item 304828	NM_002334.4(LRP4):c.*1727G>A	LRP4-AS1, LRP4	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304829	NM_002334.4(LRP4):c.*1662C>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879414	NM_002334.4(LRP4):c.*1627A>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 304830	NM_002334.4(LRP4):c.*1586T>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879415	NM_002334.4(LRP4):c.*1546C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879416	NM_002334.4(LRP4):c.*1467C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879793	NM_002334.4(LRP4):c.*1445A>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 879794	NM_002334.4(LRP4):c.*1335G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304831	NM_002334.4(LRP4):c.*1334dup	LRP4, LRP4-AS1	Duplication (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879795	NM_002334.4(LRP4):c.*1322G>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879796	NM_002334.4(LRP4):c.*1273G>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 879797	NM_002334.4(LRP4):c.*1151C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 304832	NM_002334.4(LRP4):c.*1064C>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304833	NM_002334.4(LRP4):c.*1017C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 304834	NM_002334.4(LRP4):c.*929C>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GLikely benign
Select item 877852	NM_002334.4(LRP4):c.*921A>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304835	NM_002334.4(LRP4):c.*780C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304836	NM_002334.4(LRP4):c.*734C>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304837	NM_002334.4(LRP4):c.*666del	LRP4, LRP4-AS1	Deletion (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 877853	NM_002334.4(LRP4):c.*665G>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 877854	NM_002334.4(LRP4):c.*609A>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304838	NM_002334.4(LRP4):c.*561T>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GBenign
Select item 878012	NM_002334.4(LRP4):c.*415C>G	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878013	NM_002334.4(LRP4):c.*379C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304839	NM_002334.4(LRP4):c.*372G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878014	NM_002334.4(LRP4):c.*363C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878015	NM_002334.4(LRP4):c.*329T>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304840	NM_002334.4(LRP4):c.*305C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304841	NM_002334.4(LRP4):c.*261C>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 878016	NM_002334.4(LRP4):c.*242G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304842	NM_002334.4(LRP4):c.*104C>T	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 878833	NM_002334.4(LRP4):c.*54G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome +1 more	GBenign/Likely benign
Select item 304843	NM_002334.4(LRP4):c.*44T>C	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304844	NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)	LRP4, LRP4-AS1 (T1891M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 282957	NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)	LRP4, LRP4-AS1 (S1887C)	Single nucleotide variant (missense variant)	LRP4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 304845	NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly)	LRP4, LRP4-AS1 (R1884G)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304846	NM_002334.4(LRP4):c.5520T>C (p.His1840=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 373466	NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)	LRP4-AS1, LRP4 (R1838Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 304847	NM_002334.4(LRP4):c.5346C>G (p.Pro1782=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304848	NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr)	LRP4, LRP4-AS1 (K1777T)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 288220	NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val)	LRP4, LRP4-AS1 (I1728V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 304849	NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)	LRP4, LRP4-AS1 (L1722H)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign/Likely benign
Select item 467792	NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln)	LRP4, LRP4-AS1 (R1685Q)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +4 more	GUncertain significance
Select item 467791	NM_002334.4(LRP4):c.5010G>A (p.Val1670=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign
Select item 879839	NM_002334.4(LRP4):c.4940C>G (p.Pro1647Arg)	LRP4, LRP4-AS1 (P1647R)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304850	NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln)	LRP4-AS1, LRP4 (R1646Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 877897	NM_002334.4(LRP4):c.4930G>A (p.Asp1644Asn)	LRP4, LRP4-AS1 (D1644N)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304851	NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu)	LRP4, LRP4-AS1 (P1643L)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304852	NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 877898	NM_002334.4(LRP4):c.4914C>G (p.Ala1638=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304853	NM_002334.4(LRP4):c.4905C>T (p.Phe1635=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 450674	NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)	LRP4, LRP4-AS1 (S1633L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 772479	NM_002334.4(LRP4):c.4890C>T (p.Ala1630=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 304854	NM_002334.4(LRP4):c.4837+10C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign/Likely benign
Select item 878065	NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln)	LRP4, LRP4-AS1 (R1588Q)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 878066	NM_002334.4(LRP4):c.4693-9G>A	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 703905	NM_002334.4(LRP4):c.4674C>T (p.His1558=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 304855	NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly)	LRP4-AS1, LRP4 (S1554G)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign
Select item 304856	NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln)	LRP4, LRP4-AS1 (R1549Q)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304857	NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)	LRP4, LRP4-AS1 (R1538Q)	Single nucleotide variant (missense variant)	Bone Mineral Density Variation +6 more	GConflicting classifications of pathogenicity
Select item 304858	NM_002334.4(LRP4):c.4536A>T (p.Thr1512=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 304859	NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser)	LRP4, LRP4-AS1 (N1467S)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 878067	NM_002334.4(LRP4):c.4384C>T (p.Arg1462Cys)	LRP4, LRP4-AS1 (R1462C)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304860	NM_002334.4(LRP4):c.4322A>G (p.Asn1441Ser)	LRP4, LRP4-AS1 (N1441S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 304861	NM_002334.4(LRP4):c.4293C>T (p.Asp1431=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 304862	NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln)	LRP4, LRP4-AS1 (R1425Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 879523	NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln)	LRP4 (R1365Q)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304863	NM_002334.4(LRP4):c.3945G>A (p.Ser1315=)	LRP4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 304864	NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)	LRP4 (S1315L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 304865	NM_002334.4(LRP4):c.3818G>C (p.Arg1273Pro)	LRP4 (R1273P)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 211405	NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +4 more	GConflicting classifications of pathogenicity
Select item 304866	NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu)	LRP4 (P1251L)	Single nucleotide variant (missense variant)	LRP4-related condition +4 more	GUncertain significance
Select item 304867	NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser)	LRP4 (A1237S)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304868	NM_002334.4(LRP4):c.3699+5G>C	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 286738	NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)	LRP4 (N1207S)	Single nucleotide variant (missense variant)	LRP4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 879889	NM_002334.4(LRP4):c.3615C>T (p.Leu1205=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304869	NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val)	LRP4 (A1203V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 879890	NM_002334.4(LRP4):c.3509G>A (p.Arg1170Gln)	LRP4 (R1170Q)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304870	NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp)	LRP4 (R1158W)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome	GConflicting classifications of pathogenicity
Select item 704589	NM_002334.4(LRP4):c.3429G>A (p.Thr1143=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 304871	NM_002334.4(LRP4):c.3278-6C>T	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 304872	NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val)	LRP4 (I1086V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 806670	NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg)	LRP4 (G1025R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 304873	NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)	LRP4 (N1022D)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 304874	NM_002334.4(LRP4):c.3022A>G (p.Met1008Val)	LRP4 (M1008V)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304875	NM_002334.4(LRP4):c.2958G>A (p.Leu986=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 535807	NM_002334.4(LRP4):c.2868G>A (p.Glu956=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +4 more	GConflicting classifications of pathogenicity
Select item 304876	NM_002334.4(LRP4):c.2814+10G>A	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 304877	NM_002334.4(LRP4):c.2639C>T (p.Ala880Val)	LRP4 (A880V)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 878116	NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp)	LRP4 (G870D)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 304878	NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr)	LRP4 (N857T)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 704567	NM_002334.4(LRP4):c.2535A>C (p.Thr845=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 878117	NM_002334.4(LRP4):c.2482A>G (p.Asn828Asp)	LRP4 (N828D)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance

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