ClinVar for Gene (Select 53353) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062625	GRCh37/hg19 2q22.1(chr2:140931411-141439812)x3	LRP1B	Copy number gain	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060762	NM_018557.3(LRP1B):c.13047G>A (p.Thr4349=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3060696	NM_018557.3(LRP1B):c.5256A>G (p.Ser1752=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3060585	NM_018557.3(LRP1B):c.8031A>G (p.Gln2677=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3060548	NM_018557.3(LRP1B):c.8730C>T (p.Cys2910=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3060361	NM_018557.3(LRP1B):c.5500+5A>G	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GBenign
Select item 3060133	NM_018557.3(LRP1B):c.10844G>C (p.Gly3615Ala)	LRP1B (G3615A)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3060015	NM_018557.3(LRP1B):c.2616C>T (p.Asp872=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3059850	NM_018557.3(LRP1B):c.2968+10A>C	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GBenign
Select item 3059846	NM_018557.3(LRP1B):c.7388-7A>G	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GBenign
Select item 3059780	NM_018557.3(LRP1B):c.8526T>C (p.Tyr2842=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3059775	NM_018557.3(LRP1B):c.10532-9dup	LRP1B	Duplication (intron variant)	LRP1B-related condition	GBenign
Select item 3059721	NM_018557.3(LRP1B):c.4335-7T>G	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GBenign
Select item 3059582	NM_018557.3(LRP1B):c.6633A>T (p.Pro2211=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3059458	NM_018557.3(LRP1B):c.143A>G (p.Gln48Arg)	LRP1B (Q48R)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3059387	NM_018557.3(LRP1B):c.3072C>A (p.Ala1024=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3059380	NM_018557.3(LRP1B):c.8850+3A>G	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GBenign
Select item 3059354	NM_018557.3(LRP1B):c.10650G>A (p.Glu3550=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3059120	NM_018557.3(LRP1B):c.8823C>T (p.Asp2941=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3059078	NM_018557.3(LRP1B):c.11727C>T (p.Gly3909=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3059050	NM_018557.3(LRP1B):c.1239T>C (p.Val413=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3058553	NM_018557.3(LRP1B):c.6714C>A (p.Thr2238=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3058533	NM_018557.3(LRP1B):c.10470C>T (p.Pro3490=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3058505	NM_018557.3(LRP1B):c.10401C>T (p.Asp3467=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3058023	NM_018557.3(LRP1B):c.4476G>A (p.Leu1492=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3057357	NM_018557.3(LRP1B):c.10405G>A (p.Ala3469Thr)	LRP1B (A3469T)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3057183	NM_018557.3(LRP1B):c.9225A>G (p.Leu3075=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3057166	NM_018557.3(LRP1B):c.11200C>A (p.Gln3734Lys)	LRP1B (Q3734K)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3056378	NM_018557.3(LRP1B):c.8238G>A (p.Gly2746=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3056106	NM_018557.3(LRP1B):c.13659+8A>G	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GBenign
Select item 3055701	NM_018557.3(LRP1B):c.2058G>T (p.Arg686=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3055616	NM_018557.3(LRP1B):c.8322C>T (p.Cys2774=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3055421	NM_018557.3(LRP1B):c.12790G>C (p.Val4264Leu)	LRP1B (V4264L)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3055298	NM_018557.3(LRP1B):c.9419A>G (p.Gln3140Arg)	LRP1B (Q3140R)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3055032	NM_018557.3(LRP1B):c.6519A>G (p.Gly2173=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3054705	NM_018557.3(LRP1B):c.3187G>A (p.Asp1063Asn)	LRP1B (D1063N)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3054003	NM_018557.3(LRP1B):c.5439C>T (p.Ile1813=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3053764	NM_018557.3(LRP1B):c.393G>A (p.Met131Ile)	LRP1B (M131I)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3053649	NM_018557.3(LRP1B):c.13799A>G (p.Ter4600=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3052550	NM_018557.3(LRP1B):c.10887G>T (p.Val3629=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3050979	NM_018557.3(LRP1B):c.8130A>C (p.Gly2710=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3050875	NM_018557.3(LRP1B):c.3273C>T (p.Thr1091=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3050851	NM_018557.3(LRP1B):c.5901A>G (p.Ile1967Met)	LRP1B (I1967M)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3050589	NM_018557.3(LRP1B):c.4320G>T (p.Val1440=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3050258	NM_018557.3(LRP1B):c.5310C>T (p.Ile1770=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3050257	NM_018557.3(LRP1B):c.8958C>T (p.Tyr2986=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3049481	NM_018557.3(LRP1B):c.1944A>G (p.Arg648=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3049438	NM_018557.3(LRP1B):c.7542G>A (p.Ser2514=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3049100	NM_018557.3(LRP1B):c.3137A>G (p.Glu1046Gly)	LRP1B (E1046G)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3046077	NM_018557.3(LRP1B):c.344-9dup	LRP1B	Duplication (intron variant)	LRP1B-related condition	GBenign
Select item 3046004	NM_018557.3(LRP1B):c.1431C>T (p.Val477=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3045917	NM_018557.3(LRP1B):c.7977C>T (p.Cys2659=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3045266	NM_018557.3(LRP1B):c.12806-3T>C	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GLikely benign
Select item 3045191	NM_018557.3(LRP1B):c.13687G>A (p.Ala4563Thr)	LRP1B (A4563T)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3044416	NM_018557.3(LRP1B):c.3198C>T (p.Cys1066=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3043742	NM_018557.3(LRP1B):c.10865G>C (p.Gly3622Ala)	LRP1B (G3622A)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3043462	NM_018557.3(LRP1B):c.11008+6G>T	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GLikely benign
Select item 3043432	NM_018557.3(LRP1B):c.11847A>G (p.Lys3949=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3043410	NM_018557.3(LRP1B):c.4170-5_4170-3dup	LRP1B	Duplication (intron variant)	LRP1B-related condition	GLikely benign
Select item 3042428	NM_018557.3(LRP1B):c.3215G>A (p.Arg1072His)	LRP1B (R1072H)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3042252	NM_018557.3(LRP1B):c.9532G>A (p.Ala3178Thr)	LRP1B (A3178T)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3042117	NM_018557.3(LRP1B):c.6656G>A (p.Arg2219His)	LRP1B (R2219H)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3041979	NM_018557.3(LRP1B):c.4104A>G (p.Leu1368=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3041947	NM_018557.3(LRP1B):c.4392A>G (p.Arg1464=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3041942	NM_018557.3(LRP1B):c.5626+7G>A	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GBenign
Select item 3041748	NM_018557.3(LRP1B):c.11447C>T (p.Ala3816Val)	LRP1B (A3816V)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3041476	NM_018557.3(LRP1B):c.12047C>T (p.Pro4016Leu)	LRP1B (P4016L)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3041230	NM_018557.3(LRP1B):c.12790G>A (p.Val4264Ile)	LRP1B (V4264I)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3040321	NM_018557.3(LRP1B):c.7877-4C>A	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GLikely benign
Select item 3040016	NM_018557.3(LRP1B):c.5043T>C (p.Asp1681=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3039636	NM_018557.3(LRP1B):c.2850C>T (p.Asp950=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3039567	NM_018557.3(LRP1B):c.1309G>A (p.Val437Ile)	LRP1B (V437I)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3039359	NM_018557.3(LRP1B):c.2811G>A (p.Gly937=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3039093	NM_018557.3(LRP1B):c.12828A>C (p.Ala4276=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3039019	NM_018557.3(LRP1B):c.7370C>A (p.Ala2457Asp)	LRP1B (A2457D)	Single nucleotide variant (missense variant)	LRP1B-related condition	GUncertain significance
Select item 3038994	NM_018557.3(LRP1B):c.1409-4G>A	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GLikely benign
Select item 3038715	NM_018557.3(LRP1B):c.4170-5_4170-3del	LRP1B	Deletion (intron variant)	LRP1B-related condition	GBenign
Select item 3038670	NM_018557.3(LRP1B):c.8522-8G>A	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GLikely benign
Select item 3038351	NM_018557.3(LRP1B):c.6655C>T (p.Arg2219Cys)	LRP1B (R2219C)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3037798	NM_018557.3(LRP1B):c.2985C>T (p.Asp995=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3037720	NM_018557.3(LRP1B):c.6493C>T (p.Arg2165Trp)	LRP1B (R2165W)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3037579	NM_018557.3(LRP1B):c.11361C>T (p.Cys3787=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3037502	NM_018557.3(LRP1B):c.9401A>G (p.Asp3134Gly)	LRP1B (D3134G)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3037315	NM_018557.3(LRP1B):c.2380+9A>G	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GBenign
Select item 3036737	NM_018557.3(LRP1B):c.5022A>G (p.Gln1674=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3036367	NM_018557.3(LRP1B):c.7752A>G (p.Leu2584=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3035953	NM_018557.3(LRP1B):c.11816C>G (p.Thr3939Ser)	LRP1B (T3939S)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3035597	NM_018557.3(LRP1B):c.9318A>G (p.Thr3106=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3035091	NM_018557.3(LRP1B):c.2785G>T (p.Val929Leu)	LRP1B (V929L)	Single nucleotide variant (missense variant)	LRP1B-related condition	GBenign
Select item 3034562	NM_018557.3(LRP1B):c.4742G>A (p.Arg1581His)	LRP1B (R1581H)	Single nucleotide variant (missense variant)	LRP1B-related condition	GLikely benign
Select item 3034457	NM_018557.3(LRP1B):c.7194+10T>C	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related condition	GLikely benign
Select item 3034298	NM_018557.3(LRP1B):c.1308C>T (p.Ile436=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3034156	NM_018557.3(LRP1B):c.927T>C (p.Val309=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GBenign
Select item 3033188	NM_018557.3(LRP1B):c.12948C>G (p.Thr4316=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related condition	GLikely benign
Select item 3024617	GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1	ARHGAP15, GTDC1 +3 more	Copy number loss	not provided	GPathogenic
Select item 3024616	GRCh37/hg19 2q22.1-22.2(chr2:140913897-143561033)x3	LRP1B	Copy number gain	not provided	GUncertain significance
Select item 2664508	GRCh37/hg19 2q22.1(chr2:138458639-141918297)x1	HNMT, LRP1B +2 more	Copy number loss	Syndromic craniosynostosis	GLikely pathogenic
Select item 2651390	NM_018557.3(LRP1B):c.489T>A (p.Gly163=)	LRP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651389	NM_018557.3(LRP1B):c.5457T>C (p.Ser1819=)	LRP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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