"LRP4-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029287	NM_002334.4(LRP4):c.5673G>A (p.Thr1891=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	LRP4-related disorder	GLikely benign
Select item 282957	NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)	LRP4, LRP4-AS1 (S1887C)	Single nucleotide variant (missense variant)	LRP4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3034115	NM_002334.4(LRP4):c.5625C>T (p.Ser1875=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	LRP4-related disorder	GLikely benign
Select item 304846	NM_002334.4(LRP4):c.5520T>C (p.His1840=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2172388	NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +3 more	GLikely benign
Select item 3050034	NM_002334.4(LRP4):c.5375A>G (p.Tyr1792Cys)	LRP4, LRP4-AS1 (Y1792C)	Single nucleotide variant (missense variant)	LRP4-related disorder	GUncertain significance
Select item 197003	NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)	LRP4, LRP4-AS1 (M1786K)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 2421389	NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +3 more	GLikely benign
Select item 707181	NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GLikely benign
Select item 304857	NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)	LRP4, LRP4-AS1 (R1538Q)	Single nucleotide variant (missense variant)	LRP4-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 659855	NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala)	LRP4, LRP4-AS1 (G1515A)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 3032217	NM_002334.4(LRP4):c.4231C>A (p.Arg1411=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	LRP4-related disorder	GLikely benign
Select item 3033752	NM_002334.4(LRP4):c.4230-2A>T	LRP4-AS1, LRP4	Single nucleotide variant (non-coding transcript variant +1 more)	LRP4-related disorder	GLikely pathogenic
Select item 3051520	NM_002334.4(LRP4):c.4071C>T (p.Leu1357=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder	GLikely benign
Select item 196124	NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln)	LRP4 (R1327Q)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +4 more	GUncertain significance
Select item 467788	NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser)	LRP4 (P1307S)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 304866	NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu)	LRP4 (P1251L)	Single nucleotide variant (missense variant)	LRP4-related disorder +4 more	GUncertain significance
Select item 286738	NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)	LRP4 (N1207S)	Single nucleotide variant (missense variant)	LRP4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1118362	NM_002334.4(LRP4):c.3462C>T (p.Asp1154=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GLikely benign
Select item 706577	NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GLikely benign
Select item 720056	NM_002334.4(LRP4):c.3255C>T (p.Ala1085=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder +1 more	GLikely benign
Select item 2631328	NM_002334.4(LRP4):c.3236C>A (p.Thr1079Asn)	LRP4 (T1079N)	Single nucleotide variant (missense variant)	LRP4-related disorder	GUncertain significance
Select item 304873	NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)	LRP4 (N1022D)	Single nucleotide variant (missense variant)	LRP4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 535807	NM_002334.4(LRP4):c.2868G>A (p.Glu956=)	LRP4	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 285913	NM_002334.4(LRP4):c.2815-6T>G	LRP4	Single nucleotide variant (intron variant)	LRP4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3034733	NM_002334.4(LRP4):c.2559C>T (p.Leu853=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder	GLikely benign
Select item 766287	NM_002334.4(LRP4):c.2202C>T (p.His734=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GLikely benign
Select item 879577	NM_002334.4(LRP4):c.2112C>T (p.Asp704=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 704473	NM_002334.4(LRP4):c.1584C>T (p.Thr528=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GLikely benign
Select item 286559	NM_002334.4(LRP4):c.1494C>T (p.Asn498=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder +5 more	GBenign/Likely benign
Select item 772181	NM_002334.4(LRP4):c.1491C>T (p.Leu497=)	LRP4	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3052413	NM_002334.4(LRP4):c.1461C>T (p.Val487=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder	GLikely benign
Select item 702196	NM_002334.4(LRP4):c.1310-9G>C	LRP4	Single nucleotide variant (intron variant)	LRP4-related disorder +3 more	GLikely benign
Select item 304889	NM_002334.4(LRP4):c.1284C>T (p.Pro428=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 497266	NM_002334.4(LRP4):c.1194A>G (p.Glu398=)	LRP4	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 467779	NM_002334.4(LRP4):c.1191T>C (p.Asn397=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +4 more	GBenign/Likely benign
Select item 1918069	NM_002334.4(LRP4):c.820C>G (p.Gln274Glu)	LRP4 (Q274E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1593999	NM_002334.4(LRP4):c.591G>A (p.Gln197=)	LRP4	Single nucleotide variant (synonymous variant)	LRP4-related disorder +3 more	GLikely benign
Select item 497270	NM_002334.4(LRP4):c.570C>T (p.Pro190=)	LRP4	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 497267	NM_002334.4(LRP4):c.431-3del	LRP4	Deletion (intron variant)	Cenani-Lenz syndactyly syndrome +4 more	GLikely benign
Select item 304901	NM_002334.4(LRP4):c.431-8C>T	LRP4	Single nucleotide variant (intron variant)	LRP4-related disorder +3 more	GBenign/Likely benign
Select item 535808	NM_002334.4(LRP4):c.273C>T (p.Asp91=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +3 more	GLikely benign
Select item 535796	NM_002334.4(LRP4):c.257G>A (p.Arg86His)	LRP4 (R86H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 467781	NM_002334.4(LRP4):c.141C>G (p.Ala47=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign/Likely benign

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Items: 44