"Ambry Genetics"[submitter] AND "LDLRAD2"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2353725	NM_001013693.3(LDLRAD2):c.7G>C (p.Ala3Pro)	LDLRAD2 (A3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482955	NM_001013693.3(LDLRAD2):c.92T>A (p.Leu31Gln)	LDLRAD2 (L31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293049	NM_001013693.3(LDLRAD2):c.101T>C (p.Leu34Pro)	LDLRAD2 (L34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118272	NM_001013693.3(LDLRAD2):c.140G>A (p.Arg47His)	LDLRAD2 (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339317	NM_001013693.3(LDLRAD2):c.188A>T (p.Asp63Val)	LDLRAD2 (D63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556455	NM_001013693.3(LDLRAD2):c.205C>G (p.Gln69Glu)	LDLRAD2 (Q69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118274	NM_001013693.3(LDLRAD2):c.313G>A (p.Asp105Asn)	LDLRAD2 (D105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118275	NM_001013693.3(LDLRAD2):c.325C>T (p.Pro109Ser)	LDLRAD2, LOC129929627 (P109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290410	NM_001013693.3(LDLRAD2):c.329G>T (p.Gly110Val)	LDLRAD2, LOC129929627 (G110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118276	NM_001013693.3(LDLRAD2):c.361G>T (p.Gly121Trp)	LDLRAD2, LOC129929627 (G121W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511528	NM_001013693.3(LDLRAD2):c.374C>T (p.Pro125Leu)	LDLRAD2, LOC129929627 (P125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327851	NM_001013693.3(LDLRAD2):c.386C>T (p.Pro129Leu)	LDLRAD2, LOC129929627 (P129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519761	NM_001013693.3(LDLRAD2):c.407C>G (p.Pro136Arg)	LDLRAD2, LOC129929627 (P136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234469	NM_001013693.3(LDLRAD2):c.446G>T (p.Arg149Leu)	LDLRAD2 (R149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118277	NM_001013693.3(LDLRAD2):c.449T>C (p.Leu150Pro)	LDLRAD2 (L150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455341	NM_001013693.3(LDLRAD2):c.470C>A (p.Pro157His)	LDLRAD2 (P157H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3118278	NM_001013693.3(LDLRAD2):c.478G>C (p.Asp160His)	LDLRAD2 (D160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593386	NM_001013693.3(LDLRAD2):c.532C>T (p.Arg178Cys)	LDLRAD2 (R178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118279	NM_001013693.3(LDLRAD2):c.641G>C (p.Arg214Thr)	LDLRAD2 (R214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290407	NM_001013693.3(LDLRAD2):c.653C>T (p.Pro218Leu)	LDLRAD2 (P218L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3118280	NM_001013693.3(LDLRAD2):c.758G>A (p.Ser253Asn)	LDLRAD2 (S253N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461786	NM_001013693.3(LDLRAD2):c.782C>T (p.Thr261Met)	LDLRAD2 (T261M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386467	NM_001013693.3(LDLRAD2):c.793G>A (p.Ala265Thr)	LDLRAD2 (A265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396739	NM_001013693.3(LDLRAD2):c.800T>C (p.Leu267Ser)	LDLRAD2 (L267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107414	NM_005529.7(HSPG2):c.13160G>A (p.Arg4387His)	HSPG2, LDLRAD2 (R4388H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 295693	NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)	HSPG2, LDLRAD2 (A4382D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2288940	NM_005529.7(HSPG2):c.13135C>T (p.Arg4379Cys)	HSPG2, LDLRAD2 (R4380C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1420191	NM_005529.7(HSPG2):c.13037G>A (p.Gly4346Asp)	HSPG2, LDLRAD2 (G4346D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 499443	NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)	HSPG2, LDLRAD2 (V4340M +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 295697	NM_005529.7(HSPG2):c.13004-5G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Schwartz-Jampel syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2455147	NM_005529.7(HSPG2):c.12953G>A (p.Arg4318Gln)	HSPG2, LDLRAD2 (R4318Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2346509	NM_005529.7(HSPG2):c.12953G>C (p.Arg4318Pro)	HSPG2, LDLRAD2 (R4318P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 447541	NM_005529.7(HSPG2):c.12952C>T (p.Arg4318Trp)	HSPG2, LDLRAD2 (R4318W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 804894	NM_005529.7(HSPG2):c.12929A>C (p.Asp4310Ala)	HSPG2, LDLRAD2 (D4310A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2474040	NM_005529.7(HSPG2):c.12928G>C (p.Asp4310His)	HSPG2, LDLRAD2 (D4311H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2166210	NM_005529.7(HSPG2):c.12908G>A (p.Arg4303His)	HSPG2, LDLRAD2 (R4304H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1501326	NM_005529.7(HSPG2):c.12907C>T (p.Arg4303Cys)	HSPG2, LDLRAD2 (R4303C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2614133	NM_005529.7(HSPG2):c.12898C>T (p.Arg4300Trp)	HSPG2, LDLRAD2 (R4300W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788284	NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)	HSPG2, LDLRAD2 (R4296Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2218464	NM_005529.7(HSPG2):c.12883C>T (p.Arg4295Trp)	HSPG2, LDLRAD2 (R4295W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 199235	NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His)	HSPG2, LDLRAD2 (R4281H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2054540	NM_005529.7(HSPG2):c.12841C>T (p.Arg4281Cys)	HSPG2, LDLRAD2 (R4282C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2262476	NM_005529.7(HSPG2):c.12760G>C (p.Gly4254Arg)	HSPG2, LDLRAD2 (G4255R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 873638	NM_005529.7(HSPG2):c.12751G>A (p.Gly4251Arg)	HSPG2, LDLRAD2 (G4252R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3107413	NM_005529.7(HSPG2):c.12713C>T (p.Thr4238Ile)	HSPG2, LDLRAD2 (T4238I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1476220	NM_005529.7(HSPG2):c.12691G>A (p.Glu4231Lys)	HSPG2, LDLRAD2 (E4232K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 447540	NM_005529.7(HSPG2):c.12607G>A (p.Gly4203Arg)	HSPG2, LDLRAD2 (G4203R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance

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Items: 47