"GeneDx"[submitter] AND "LRP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 332063	NM_004525.3(LRP2):c.*253T>C	LRP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1311447	NM_004525.3(LRP2):c.13936G>A (p.Ala4646Thr)	LRP2 (A4646T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 332067	NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)	LRP2 (T4641S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1374771	NM_004525.3(LRP2):c.13855C>T (p.Leu4619Phe)	LRP2 (L4619F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303325	NM_004525.3(LRP2):c.13847C>T (p.Ser4616Leu)	LRP2 (S4616L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2505644	NM_004525.3(LRP2):c.13813C>A (p.Gln4605Lys)	LRP2 (Q4605K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416931	NM_004525.3(LRP2):c.13807A>G (p.Asn4603Asp)	LRP2 (N4603D)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 1295680	NM_004525.3(LRP2):c.13801-78A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 374076	NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter)	LRP2 (R4585*)	Single nucleotide variant (nonsense)	Prolactin-producing pituitary gland adenoma +3 more	GConflicting classifications of pathogenicity
Select item 1252679	NM_004525.3(LRP2):c.13728+138A>T	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252146	NM_004525.3(LRP2):c.13728+69A>C	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1623563	NM_004525.3(LRP2):c.13680G>T (p.Glu4560Asp)	LRP2 (E4560D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1295676	NM_004525.3(LRP2):c.13621-164T>C	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168610	NM_004525.3(LRP2):c.13519-40CT[12]	LRP2	Microsatellite (intron variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 1165499	NM_004525.3(LRP2):c.13519-40CT[9]	LRP2	Microsatellite (intron variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 1295201	NM_004525.3(LRP2):c.13519-175_13519-174dup	LRP2	Duplication (intron variant)	not provided	GBenign
Select item 1271040	NM_004525.3(LRP2):c.13519-175dup	LRP2	Duplication (intron variant)	not provided	GBenign
Select item 1232907	NM_004525.3(LRP2):c.13519-156G>T	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3253340	NM_004525.3(LRP2):c.13394G>A (p.Ser4465Asn)	LRP2 (S4465N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295194	NM_004525.3(LRP2):c.13388+180G>A	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204400	NM_004525.3(LRP2):c.13388+113G>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1440662	NM_004525.3(LRP2):c.13306G>A (p.Val4436Ile)	LRP2 (V4436I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1946912	NM_004525.3(LRP2):c.13265C>T (p.Thr4422Ile)	LRP2 (T4422I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 129505	NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp)	LRP2 (G4417D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1522061	NM_004525.3(LRP2):c.13238C>T (p.Ala4413Val)	LRP2 (A4413V)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 129504	NM_004525.3(LRP2):c.13155C>T (p.His4385=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 21419	NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)	LRP2 (C4381fs)	Duplication (frameshift variant)	Donnai-Barrow syndrome +1 more	GPathogenic/Likely pathogenic
Select item 129502	NM_004525.3(LRP2):c.13113C>T (p.Ile4371=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +2 more	GBenign
Select item 1253837	NM_004525.3(LRP2):c.13109-48C>G	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269135	NM_004525.3(LRP2):c.13109-65T>G	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188701	NM_004525.3(LRP2):c.12989-336T>G	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240932	NM_004525.3(LRP2):c.12988+196T>A	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293106	NM_004525.3(LRP2):c.12988+174C>A	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1574810	NM_004525.3(LRP2):c.12958A>G (p.Ile4320Val)	LRP2 (I4320V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1295935	NM_004525.3(LRP2):c.12812-67G>A	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 211390	NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)	LRP2 (D4242G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129501	NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)	LRP2 (I4210L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GBenign
Select item 1226689	NM_004525.3(LRP2):c.12591-39C>T	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231582	NM_004525.3(LRP2):c.12591-169C>T	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217442	NM_004525.3(LRP2):c.12590+181A>C	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197797	NM_004525.3(LRP2):c.12590+167A>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1004723	NM_004525.3(LRP2):c.12494G>T (p.Arg4165Leu)	LRP2 (R4165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1021402	NM_004525.3(LRP2):c.12476C>T (p.Ser4159Leu)	LRP2 (S4159L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1295199	NM_004525.3(LRP2):c.12462-147C>T	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308772	NM_004525.3(LRP2):c.12445G>A (p.Val4149Met)	LRP2 (V4149M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 332084	NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser)	LRP2 (R4127S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1505724	NM_004525.3(LRP2):c.12376G>A (p.Gly4126Ser)	LRP2 (G4126S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1277072	NM_004525.3(LRP2):c.12295+139G>A	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129500	NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu)	LRP2 (K4094E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 380563	NM_004525.3(LRP2):c.12244G>T (p.Glu4082Ter)	LRP2 (E4082*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1192084	NM_004525.3(LRP2):c.12152-292C>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265271	NM_004525.3(LRP2):c.12152-295G>C	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129499	NM_004525.3(LRP2):c.12151+4T>C	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 129497	NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly)	LRP2 (V3999G)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 3368660	NM_004525.3(LRP2):c.11872G>A (p.Asp3958Asn)	LRP2 (D3958N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334429	NM_004525.3(LRP2):c.11798A>G (p.Tyr3933Cys)	LRP2 (Y3933C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129496	NM_004525.3(LRP2):c.11759-5T>G	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 332088	NM_004525.3(LRP2):c.11759-11T>G	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1251485	NM_004525.3(LRP2):c.11759-260G>A	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222034	NM_004525.3(LRP2):c.11758+143A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206468	NM_004525.3(LRP2):c.11636-310A>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 129493	NM_004525.3(LRP2):c.11601T>C (p.Cys3867=)	LRP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1307529	NM_004525.3(LRP2):c.11581T>C (p.Cys3861Arg)	LRP2 (C3861R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259412	NM_004525.3(LRP2):c.11498-13del	LRP2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1245516	NM_004525.3(LRP2):c.11498-154G>A	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222906	NM_004525.3(LRP2):c.11498-332C>T	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276729	NM_004525.3(LRP2):c.11381-268G>A	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269961	NM_004525.3(LRP2):c.11380+294A>T	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3375995	NM_004525.3(LRP2):c.11294G>A (p.Arg3765Gln)	LRP2 (R3765Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204908	NM_004525.3(LRP2):c.11264-319G>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450059	NM_004525.3(LRP2):c.11259C>G (p.Asn3753Lys)	LRP2 (N3753K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210611	NM_004525.3(LRP2):c.11245_11246del (p.Ser3749fs)	LRP2 (S3749fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3370129	NM_004525.3(LRP2):c.11220T>A (p.Asp3740Glu)	LRP2 (D3740E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684512	NM_004525.3(LRP2):c.11114G>T (p.Cys3705Phe)	LRP2 (C3705F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129492	NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)	LRP2 (V3698M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1295191	NM_004525.3(LRP2):c.11015-66A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257638	NM_004525.3(LRP2):c.11015-188G>T	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246009	NM_004525.3(LRP2):c.11015-288A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308010	NM_004525.3(LRP2):c.10910C>T (p.Pro3637Leu)	LRP2 (P3637L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1197207	NM_004525.3(LRP2):c.10880G>T (p.Ser3627Ile)	LRP2 (S3627I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2067006	NM_004525.3(LRP2):c.10847T>A (p.Phe3616Tyr)	LRP2 (F3616Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129491	NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr)	LRP2 (A3602T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1295190	NM_004525.3(LRP2):c.10769-147A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228008	NM_004525.3(LRP2):c.10769-243G>T	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221503	NM_004525.3(LRP2):c.10768+173del	LRP2	Deletion (intron variant)	not provided	GBenign
Select item 1214500	NM_004525.3(LRP2):c.10768+172_10768+173del	LRP2	Deletion (intron variant)	not provided	GLikely benign
Select item 281919	NM_004525.3(LRP2):c.10703C>T (p.Pro3568Leu)	LRP2 (P3568L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 332102	NM_004525.3(LRP2):c.10647G>A (p.Pro3549=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1304906	NM_004525.3(LRP2):c.10646C>T (p.Pro3549Leu)	LRP2 (P3549L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223290	NM_004525.3(LRP2):c.10572-264dup	LRP2	Duplication (intron variant)	not provided	GBenign
Select item 1247366	NM_004525.3(LRP2):c.10572-255del	LRP2	Deletion (intron variant)	not provided	GBenign
Select item 1208500	NM_004525.3(LRP2):c.10558G>A (p.Ala3520Thr)	LRP2 (A3520T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373600	NM_004525.3(LRP2):c.10548G>C (p.Gln3516His)	LRP2 (Q3516H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129490	NM_004525.3(LRP2):c.10503G>A (p.Gln3501=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +2 more	GBenign
Select item 1308115	NM_004525.3(LRP2):c.10453G>C (p.Gly3485Arg)	LRP2 (G3485R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446561	NM_004525.3(LRP2):c.10415A>G (p.Asn3472Ser)	LRP2 (N3472S)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GUncertain significance
Select item 1279171	NM_004525.3(LRP2):c.10393+318A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193002	NM_004525.3(LRP2):c.10393+97G>A	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1497426	NM_004525.3(LRP2):c.10346A>G (p.His3449Arg)	LRP2 (H3449R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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