ClinVar for Gene (Select 4037) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291434	NM_002333.4(LRP3):c.2054C>T (p.Pro685Leu)	LRP3 (P685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291433	NM_002333.4(LRP3):c.1382A>G (p.His461Arg)	LRP3 (H461R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291432	NM_002333.4(LRP3):c.1483C>T (p.Arg495Cys)	LRP3 (R495C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291431	NM_002333.4(LRP3):c.661G>A (p.Gly221Arg)	LRP3 (G221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291430	NM_002333.4(LRP3):c.1015G>A (p.Ala339Thr)	LRP3 (A339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291429	NM_002333.4(LRP3):c.1720T>C (p.Ser574Pro)	LRP3 (S574P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120293	NM_002333.4(LRP3):c.860A>G (p.Asp287Gly)	LRP3 (D287G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120292	NM_002333.4(LRP3):c.758C>T (p.Ala253Val)	LRP3 (A253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120291	NM_002333.4(LRP3):c.754C>A (p.Leu252Met)	LRP3 (L252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120290	NM_002333.4(LRP3):c.602C>T (p.Ser201Leu)	LRP3 (S201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120288	NM_002333.4(LRP3):c.367G>A (p.Ala123Thr)	LRP3 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120287	NM_002333.4(LRP3):c.2287G>A (p.Asp763Asn)	LRP3 (D763N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120286	NM_002333.4(LRP3):c.2153G>A (p.Arg718Gln)	LRP3 (R718Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120285	NM_002333.4(LRP3):c.200C>T (p.Pro67Leu)	LRP3 (P67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120283	NM_002333.4(LRP3):c.2003C>G (p.Pro668Arg)	LRP3 (P668R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120282	NM_002333.4(LRP3):c.1886G>A (p.Arg629His)	LRP3 (R629H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120281	NM_002333.4(LRP3):c.1790G>A (p.Arg597Gln)	LRP3 (R597Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120280	NM_002333.4(LRP3):c.1636C>T (p.Arg546Trp)	LRP3 (R546W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120278	NM_002333.4(LRP3):c.1474G>A (p.Ala492Thr)	LRP3 (A492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120277	NM_002333.4(LRP3):c.122C>T (p.Ala41Val)	LRP3 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120276	NM_002333.4(LRP3):c.1162G>A (p.Asp388Asn)	LRP3 (D388N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120275	NM_002333.4(LRP3):c.107C>T (p.Ala36Val)	LRP3 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120274	NM_002333.4(LRP3):c.1000G>A (p.Val334Met)	LRP3 (V334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684890	GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3	CEBPA, CEBPG +9 more	Copy number gain	not provided	GUncertain significance
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 2649696	NM_002333.4(LRP3):c.1909G>A (p.Asp637Asn)	LRP3 (D637N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649695	NM_002333.4(LRP3):c.1371C>T (p.Pro457=)	LRP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649694	NM_002333.4(LRP3):c.951C>T (p.Arg317=)	LRP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605330	NM_002333.4(LRP3):c.158G>A (p.Arg53Gln)	LRP3 (R53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600695	NM_002333.4(LRP3):c.1054C>T (p.Arg352Cys)	LRP3 (R352C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598189	NM_002333.4(LRP3):c.1456G>A (p.Glu486Lys)	LRP3 (E486K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596691	NM_002333.4(LRP3):c.605C>T (p.Ala202Val)	LRP3 (A202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590597	NM_002333.4(LRP3):c.697C>T (p.Arg233Cys)	LRP3 (R233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563564	NM_002333.4(LRP3):c.1580C>T (p.Thr527Met)	LRP3 (T527M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549711	NM_002333.4(LRP3):c.472C>G (p.Arg158Gly)	LOC132090548, LRP3 (R158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548985	NM_002333.4(LRP3):c.1273G>C (p.Gly425Arg)	LRP3 (G425R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546165	NM_002333.4(LRP3):c.698G>A (p.Arg233His)	LRP3 (R233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523670	NM_002333.4(LRP3):c.194A>G (p.Asn65Ser)	LRP3 (N65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521840	NM_002333.4(LRP3):c.1947C>G (p.Asp649Glu)	LRP3 (D649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515773	NM_002333.4(LRP3):c.1270G>A (p.Glu424Lys)	LRP3 (E424K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507978	NM_002333.4(LRP3):c.1730C>T (p.Ser577Phe)	LRP3 (S577F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492565	NM_002333.4(LRP3):c.971C>T (p.Thr324Met)	LRP3 (T324M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491050	NM_002333.4(LRP3):c.1051G>A (p.Ala351Thr)	LRP3 (A351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488315	NM_002333.4(LRP3):c.458G>A (p.Arg153His)	LRP3 (R153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478441	NM_002333.4(LRP3):c.1523G>A (p.Cys508Tyr)	LRP3 (C508Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470795	NM_002333.4(LRP3):c.89C>T (p.Thr30Ile)	LRP3 (T30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2408425	NM_002333.4(LRP3):c.1615C>T (p.Arg539Cys)	LRP3 (R539C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405515	NM_002333.4(LRP3):c.379G>A (p.Ala127Thr)	LRP3 (A127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404991	NM_002333.4(LRP3):c.1844C>T (p.Pro615Leu)	LRP3 (P615L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404345	NM_002333.4(LRP3):c.667C>T (p.Arg223Cys)	LRP3 (R223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404090	NM_002333.4(LRP3):c.2014G>A (p.Gly672Ser)	LRP3 (G672S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401862	NM_002333.4(LRP3):c.1493T>C (p.Ile498Thr)	LRP3 (I498T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395944	NM_002333.4(LRP3):c.1808G>A (p.Arg603His)	LRP3 (R603H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390958	NM_002333.4(LRP3):c.439G>A (p.Gly147Ser)	LRP3 (G147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378590	NM_002333.4(LRP3):c.1460A>G (p.His487Arg)	LRP3 (H487R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375865	NM_002333.4(LRP3):c.1585G>C (p.Glu529Gln)	LRP3 (E529Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371975	NM_002333.4(LRP3):c.1759C>T (p.Arg587Trp)	LRP3 (R587W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364313	NM_002333.4(LRP3):c.1760G>A (p.Arg587Gln)	LRP3 (R587Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360761	NM_002333.4(LRP3):c.1234G>A (p.Gly412Ser)	LRP3 (G412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343784	NM_002333.4(LRP3):c.2272A>G (p.Met758Val)	LRP3 (M758V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338348	NM_002333.4(LRP3):c.1108C>T (p.Pro370Ser)	LRP3 (P370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283503	NM_002333.4(LRP3):c.1774C>T (p.Arg592Trp)	LRP3 (R592W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253108	NM_002333.4(LRP3):c.1748G>T (p.Arg583Leu)	LRP3 (R583L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249010	NM_002333.4(LRP3):c.1277G>A (p.Gly426Asp)	LRP3 (G426D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240910	NM_002333.4(LRP3):c.1295C>T (p.Thr432Met)	LRP3 (T432M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239699	NM_002333.4(LRP3):c.1380C>G (p.Phe460Leu)	LRP3 (F460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239698	NM_002333.4(LRP3):c.1109C>T (p.Pro370Leu)	LRP3 (P370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239671	NM_002333.4(LRP3):c.1990G>A (p.Gly664Arg)	LRP3 (G664R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217890	NM_002333.4(LRP3):c.269A>G (p.Asn90Ser)	LRP3 (N90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214771	NM_002333.4(LRP3):c.1480C>T (p.Pro494Ser)	LRP3 (P494S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213243	NM_002333.4(LRP3):c.2290G>C (p.Asp764His)	LRP3 (D764H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209490	NM_002333.4(LRP3):c.418C>T (p.His140Tyr)	LRP3 (H140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208577	NM_002333.4(LRP3):c.1856G>A (p.Arg619Gln)	LRP3 (R619Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207544	NM_002333.4(LRP3):c.1801C>T (p.Arg601Cys)	LRP3 (R601C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206807	NM_002333.4(LRP3):c.889C>A (p.Gln297Lys)	LRP3 (Q297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1294937	NM_019849.3(SLC7A10):c.*132dup	LRP3, SLC7A10	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1253365	NM_019849.3(SLC7A10):c.*188C>T	LRP3, SLC7A10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1020169	NC_000019.9:g.(?_33532300)_(33793320_?)dup	CEBPA, GPATCH1 +4 more	Duplication	Acute myeloid leukemia	GUncertain significance
Select item 729824	NM_002333.4(LRP3):c.750C>T (p.Pro250=)	LRP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717088	NM_002333.4(LRP3):c.2308T>A (p.Cys770Ser)	LRP3 (C770S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687550	GRCh37/hg19 19q13.11(chr19:33688375-33831558)x1	CEBPA, LRP3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 95