6693[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 146815	GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3	CXCR4, HNMT +46 more	Copy number gain	See cases	GPathogenic
Select item 148432	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	ARHGAP15, ARHGAP15-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 57333	GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1	ARHGAP15, ARHGAP15-AS1 +50 more	Copy number loss	See cases	GPathogenic
Select item 3053649	NM_018557.3(LRP1B):c.13799A>G (p.Ter4600=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GLikely benign
Select item 2326245	NM_018557.3(LRP1B):c.13745G>A (p.Arg4582Lys)	LRP1B (R4582K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045191	NM_018557.3(LRP1B):c.13687G>A (p.Ala4563Thr)	LRP1B (A4563T)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GLikely benign
Select item 3291411	NM_018557.3(LRP1B):c.13666A>G (p.Asn4556Asp)	LRP1B (N4556D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719459	NM_018557.3(LRP1B):c.13659+10G>T	LRP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3056106	NM_018557.3(LRP1B):c.13659+8A>G	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related disorder	GBenign
Select item 3120194	NM_018557.3(LRP1B):c.13489A>C (p.Met4497Leu)	LRP1B (M4497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621717	NM_018557.3(LRP1B):c.13477C>G (p.Pro4493Ala)	LRP1B (P4493A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120193	NM_018557.3(LRP1B):c.13412G>A (p.Arg4471Lys)	LRP1B (R4471K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237135	NM_018557.3(LRP1B):c.13381G>T (p.Val4461Leu)	LRP1B (V4461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250403	NM_018557.3(LRP1B):c.13340T>C (p.Ile4447Thr)	LRP1B (I4447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614685	NM_018557.3(LRP1B):c.13237C>T (p.Pro4413Ser)	LRP1B (P4413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120192	NM_018557.3(LRP1B):c.13129G>T (p.Asp4377Tyr)	LRP1B (D4377Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 772849	NM_018557.3(LRP1B):c.13114A>T (p.Asn4372Tyr)	LRP1B (N4372Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3120191	NM_018557.3(LRP1B):c.13075G>A (p.Asp4359Asn)	LRP1B (D4359N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374129	NM_018557.3(LRP1B):c.13049G>A (p.Arg4350His)	LRP1B (R4350H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336285	NM_018557.3(LRP1B):c.13048C>G (p.Arg4350Gly)	LRP1B (R4350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060762	NM_018557.3(LRP1B):c.13047G>A (p.Thr4349=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GBenign
Select item 3291390	NM_018557.3(LRP1B):c.13045A>G (p.Thr4349Ala)	LRP1B (T4349A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239080	NM_018557.3(LRP1B):c.12970G>A (p.Val4324Met)	LRP1B (V4324M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3120190	NM_018557.3(LRP1B):c.12968A>G (p.Tyr4323Cys)	LRP1B (Y4323C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033188	NM_018557.3(LRP1B):c.12948C>G (p.Thr4316=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GLikely benign
Select item 2334179	NM_018557.3(LRP1B):c.12845C>A (p.Pro4282Gln)	LRP1B (P4282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291409	NM_018557.3(LRP1B):c.12841G>A (p.Gly4281Arg)	LRP1B (G4281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039093	NM_018557.3(LRP1B):c.12828A>C (p.Ala4276=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GLikely benign
Select item 3045266	NM_018557.3(LRP1B):c.12806-3T>C	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related disorder	GLikely benign
Select item 3055421	NM_018557.3(LRP1B):c.12790G>C (p.Val4264Leu)	LRP1B (V4264L)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GBenign
Select item 3041230	NM_018557.3(LRP1B):c.12790G>A (p.Val4264Ile)	LRP1B (V4264I)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GLikely benign
Select item 2459680	NM_018557.3(LRP1B):c.12752A>G (p.Asn4251Ser)	LRP1B (N4251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120189	NM_018557.3(LRP1B):c.12697G>C (p.Gly4233Arg)	LRP1B (G4233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120188	NM_018557.3(LRP1B):c.12632G>A (p.Ser4211Asn)	LRP1B (S4211N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288988	NM_018557.3(LRP1B):c.12577A>G (p.Thr4193Ala)	LRP1B (T4193A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770509	NM_018557.3(LRP1B):c.12555C>T (p.Cys4185=)	LRP1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2248758	NM_018557.3(LRP1B):c.12512A>C (p.Asp4171Ala)	LRP1B (D4171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475653	NM_018557.3(LRP1B):c.12502A>G (p.Lys4168Glu)	LRP1B (K4168E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720730	NM_018557.3(LRP1B):c.12497G>A (p.Arg4166His)	LRP1B (R4166H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2327029	NM_018557.3(LRP1B):c.12475A>G (p.Lys4159Glu)	LRP1B (K4159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752406	NM_018557.3(LRP1B):c.12441A>C (p.Ser4147=)	LRP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726276	NM_018557.3(LRP1B):c.12439T>G (p.Ser4147Ala)	LRP1B (S4147A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785977	NM_018557.3(LRP1B):c.12363C>T (p.Ile4121=)	LRP1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718269	NM_018557.3(LRP1B):c.12360G>A (p.Arg4120=)	LRP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584751	NM_018557.3(LRP1B):c.12253A>G (p.Ile4085Val)	LRP1B (I4085V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2620206	NM_018557.3(LRP1B):c.12211C>G (p.Gln4071Glu)	LRP1B (Q4071E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731073	NM_018557.3(LRP1B):c.12161A>C (p.Glu4054Ala)	LRP1B (E4054A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3120187	NM_018557.3(LRP1B):c.12109A>G (p.Lys4037Glu)	LRP1B (K4037E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041476	NM_018557.3(LRP1B):c.12047C>T (p.Pro4016Leu)	LRP1B (P4016L)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GBenign
Select item 3291398	NM_018557.3(LRP1B):c.12026A>G (p.Asn4009Ser)	LRP1B (N4009S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340950	NM_018557.3(LRP1B):c.11966C>T (p.Ser3989Phe)	LRP1B (S3989F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291399	NM_018557.3(LRP1B):c.11960A>C (p.Asp3987Ala)	LRP1B (D3987A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609670	NM_018557.3(LRP1B):c.11941G>A (p.Gly3981Arg)	LRP1B (G3981R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291395	NM_018557.3(LRP1B):c.11881A>G (p.Ser3961Gly)	LRP1B (S3961G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043432	NM_018557.3(LRP1B):c.11847A>G (p.Lys3949=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GLikely benign
Select item 2465502	NM_018557.3(LRP1B):c.11833G>A (p.Gly3945Arg)	LRP1B (G3945R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035953	NM_018557.3(LRP1B):c.11816C>G (p.Thr3939Ser)	LRP1B (T3939S)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GLikely benign
Select item 3120186	NM_018557.3(LRP1B):c.11807T>C (p.Ile3936Thr)	LRP1B (I3936T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348610	NM_018557.3(LRP1B):c.11760T>A (p.Asn3920Lys)	LRP1B (N3920K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215599	NM_018557.3(LRP1B):c.11728G>A (p.Asp3910Asn)	LRP1B (D3910N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059078	NM_018557.3(LRP1B):c.11727C>T (p.Gly3909=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GBenign
Select item 2406463	NM_018557.3(LRP1B):c.11602G>A (p.Val3868Met)	LRP1B (V3868M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729516	NM_018557.3(LRP1B):c.11517C>A (p.Asn3839Lys)	LRP1B (N3839K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729517	NM_018557.3(LRP1B):c.11511G>A (p.Met3837Ile)	LRP1B (M3837I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3041748	NM_018557.3(LRP1B):c.11447C>T (p.Ala3816Val)	LRP1B (A3816V)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GBenign
Select item 2302604	NM_018557.3(LRP1B):c.11404G>A (p.Glu3802Lys)	LRP1B (E3802K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037579	NM_018557.3(LRP1B):c.11361C>T (p.Cys3787=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GBenign
Select item 772850	NM_018557.3(LRP1B):c.11227G>A (p.Gly3743Ser)	LRP1B (G3743S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3057166	NM_018557.3(LRP1B):c.11200C>A (p.Gln3734Lys)	LRP1B (Q3734K)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GBenign
Select item 760895	NM_018557.3(LRP1B):c.11196G>A (p.Ser3732=)	LRP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3120185	NM_018557.3(LRP1B):c.11186G>A (p.Cys3729Tyr)	LRP1B (C3729Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461437	NM_018557.3(LRP1B):c.11074G>A (p.Val3692Met)	LRP1B (V3692M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250616	NM_018557.3(LRP1B):c.11072G>T (p.Trp3691Leu)	LRP1B (W3691L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519299	NM_018557.3(LRP1B):c.11053C>G (p.Leu3685Val)	LRP1B (L3685V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120184	NM_018557.3(LRP1B):c.11018T>A (p.Ile3673Lys)	LRP1B (I3673K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043462	NM_018557.3(LRP1B):c.11008+6G>T	LRP1B	Single nucleotide variant (intron variant)	LRP1B-related disorder	GLikely benign
Select item 2681379	NM_018557.3(LRP1B):c.11006G>T (p.Arg3669Ile)	LRP1B (R3669I)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3052550	NM_018557.3(LRP1B):c.10887G>T (p.Val3629=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GLikely benign
Select item 3043742	NM_018557.3(LRP1B):c.10865G>C (p.Gly3622Ala)	LRP1B (G3622A)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GLikely benign
Select item 748547	NM_018557.3(LRP1B):c.10849T>C (p.Tyr3617His)	LRP1B (Y3617H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3060133	NM_018557.3(LRP1B):c.10844G>C (p.Gly3615Ala)	LRP1B (G3615A)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GBenign
Select item 2362039	NM_018557.3(LRP1B):c.10832T>C (p.Leu3611Ser)	LRP1B (L3611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536288	NM_018557.3(LRP1B):c.10804G>A (p.Ala3602Thr)	LRP1B (A3602T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546309	NM_018557.3(LRP1B):c.10790G>A (p.Arg3597His)	LRP1B (R3597H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380894	NM_018557.3(LRP1B):c.10747G>A (p.Asp3583Asn)	LRP1B (D3583N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617010	NM_018557.3(LRP1B):c.10687G>A (p.Gly3563Ser)	LRP1B (G3563S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353687	NM_018557.3(LRP1B):c.10676G>A (p.Arg3559Gln)	LRP1B (R3559Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3059354	NM_018557.3(LRP1B):c.10650G>A (p.Glu3550=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GBenign
Select item 2273658	NM_018557.3(LRP1B):c.10611T>G (p.Asp3537Glu)	LRP1B (D3537E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329735	NM_018557.3(LRP1B):c.10591A>G (p.Arg3531Gly)	LRP1B (R3531G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526818	NM_018557.3(LRP1B):c.10547C>T (p.Thr3516Ile)	LRP1B (T3516I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059775	NM_018557.3(LRP1B):c.10532-9dup	LRP1B	Duplication (intron variant)	LRP1B-related disorder	GBenign
Select item 2389834	NM_018557.3(LRP1B):c.10511A>G (p.Asn3504Ser)	LRP1B (N3504S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058533	NM_018557.3(LRP1B):c.10470C>T (p.Pro3490=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GLikely benign
Select item 3057357	NM_018557.3(LRP1B):c.10405G>A (p.Ala3469Thr)	LRP1B (A3469T)	Single nucleotide variant (missense variant)	LRP1B-related disorder	GBenign
Select item 3058505	NM_018557.3(LRP1B):c.10401C>T (p.Asp3467=)	LRP1B	Single nucleotide variant (synonymous variant)	LRP1B-related disorder	GLikely benign
Select item 2259532	NM_018557.3(LRP1B):c.10301A>G (p.Asn3434Ser)	LRP1B (N3434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120183	NM_018557.3(LRP1B):c.10242A>C (p.Leu3414Phe)	LRP1B (L3414F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651384	NM_018557.3(LRP1B):c.10194A>G (p.Ser3398=)	LRP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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