"Ambry Genetics"[submitter] AND "LRP4-AS1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 943607	NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn)	LRP4, LRP4-AS1 (S1853N)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 835789	NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met)	LRP4, LRP4-AS1 (T1847M)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 373466	NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)	LRP4, LRP4-AS1 (R1838Q)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +4 more	GUncertain significance
Select item 2606664	NM_002334.4(LRP4):c.5441G>A (p.Cys1814Tyr)	LRP4, LRP4-AS1 (C1814Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120301	NM_002334.4(LRP4):c.5390G>A (p.Gly1797Glu)	LRP4, LRP4-AS1 (G1797E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1522531	NM_002334.4(LRP4):c.5374T>C (p.Tyr1792His)	LRP4, LRP4-AS1 (Y1792H)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GUncertain significance
Select item 3291436	NM_002334.4(LRP4):c.5315C>A (p.Ser1772Tyr)	LRP4, LRP4-AS1 (S1772Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1984981	NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)	LRP4, LRP4-AS1 (H1723R)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 2227192	NM_002334.4(LRP4):c.5125C>T (p.Arg1709Cys)	LRP4, LRP4-AS1 (R1709C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 467792	NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln)	LRP4, LRP4-AS1 (R1685Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
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 846793	NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln)	LRP4, LRP4-AS1 (R1610Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2526476	NM_002334.4(LRP4):c.4774A>T (p.Thr1592Ser)	LRP4, LRP4-AS1 (T1592S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120300	NM_002334.4(LRP4):c.4739A>G (p.Gln1580Arg)	LRP4, LRP4-AS1 (Q1580R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1445116	NM_002334.4(LRP4):c.4634A>G (p.Asn1545Ser)	LRP4, LRP4-AS1 (N1545S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3120299	NM_002334.4(LRP4):c.4570T>C (p.Tyr1524His)	LRP4, LRP4-AS1 (Y1524H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3291435	NM_002334.4(LRP4):c.4544G>A (p.Gly1515Asp)	LRP4, LRP4-AS1 (G1515D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 567349	NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp)	LRP4, LRP4-AS1 (R1506W)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myasthenic syndrome 17 +3 more	GUncertain significance
Select item 467790	NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala)	LRP4, LRP4-AS1 (D1502A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2528669	NM_002334.4(LRP4):c.4340C>G (p.Thr1447Arg)	LRP4, LRP4-AS1 (T1447R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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

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Items: 22