26119[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 627647	NC_000001.11:g.25320307_25719620dup	LDLRAP1, LOC122056798 +30 more	Duplication	9q34 microduplication syndrome	GLikely benign
Select item 152940	GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3	AUNIP, LDLRAP1 +44 more	Copy number gain	See cases	GUncertain significance
Select item 153081	GRCh38/hg38 1p36.11(chr1:25376278-25586537)x3	LDLRAP1, LOC129388472 +10 more	Copy number gain	See cases	GBenign
Select item 296964	NM_015627.2(LDLRAP1):c.-105G>T	LDLRAP1, LOC129929773	Single nucleotide variant	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 296963	NM_015627.2(LDLRAP1):c.-105G>A	LDLRAP1, LOC129929773	Single nucleotide variant	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 296965	NM_015627.2(LDLRAP1):c.-100G>A	LDLRAP1, LOC129929773	Single nucleotide variant	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 296966	NM_015627.3(LDLRAP1):c.-92G>T	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 875152	NM_015627.3(LDLRAP1):c.-80C>A	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 4	GConflicting classifications of pathogenicity
Select item 875153	NM_015627.3(LDLRAP1):c.-75G>T	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 296967	NM_015627.3(LDLRAP1):c.-70A>T	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 296968	NM_015627.3(LDLRAP1):c.-68G>A	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 875154	NM_015627.3(LDLRAP1):c.-59G>A	LOC129929773, LDLRAP1	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 296969	NM_015627.3(LDLRAP1):c.-46G>C	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 296970	NM_015627.3(LDLRAP1):c.-37T>C	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 3029177	NM_015627.3(LDLRAP1):c.-29G>C	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	LDLRAP1-related disorder	GLikely benign
Select item 3366322	NM_015627.3(LDLRAP1):c.-10G>A	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2441156	NM_015627.3(LDLRAP1):c.1A>G (p.Met1Val)	LDLRAP1, LOC129929773 (M1V)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 4	GLikely pathogenic
Select item 698698	NM_015627.3(LDLRAP1):c.6C>T (p.Asp2=)	LOC129929773, LDLRAP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2879761	NM_015627.3(LDLRAP1):c.9G>A (p.Ala3=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2849511	NM_015627.3(LDLRAP1):c.9G>T (p.Ala3=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1791993	NM_015627.3(LDLRAP1):c.10C>T (p.Leu4Phe)	LDLRAP1, LOC129929773 (L4F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2172066	NM_015627.3(LDLRAP1):c.12C>T (p.Leu4=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4 +1 more	GLikely benign
Select item 2697613	NM_015627.3(LDLRAP1):c.17C>A (p.Ser6Ter)	LDLRAP1, LOC129929773 (S6*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2046076	NM_015627.3(LDLRAP1):c.18G>A (p.Ser6=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1910495	NM_015627.3(LDLRAP1):c.18G>T (p.Ser6=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1792217	NM_015627.3(LDLRAP1):c.24dup (p.Arg9fs)	LDLRAP1, LOC129929773 (R9fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1456290	NM_015627.3(LDLRAP1):c.20del (p.Ala7fs)	LDLRAP1, LOC129929773 (A7fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 1596150	NM_015627.3(LDLRAP1):c.21G>T (p.Ala7=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1559597	NM_015627.3(LDLRAP1):c.21G>C (p.Ala7=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1152782	NM_015627.3(LDLRAP1):c.21G>A (p.Ala7=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4 +1 more	GLikely benign
Select item 1543712	NM_015627.3(LDLRAP1):c.24G>A (p.Gly8=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4 +1 more	GLikely benign
Select item 1156766	NM_015627.3(LDLRAP1):c.24G>T (p.Gly8=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1154055	NM_015627.3(LDLRAP1):c.24G>C (p.Gly8=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1130396	NM_015627.3(LDLRAP1):c.27G>C (p.Arg9=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 795424	NM_015627.3(LDLRAP1):c.27G>A (p.Arg9=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4 +1 more	GLikely benign
Select item 581619	NM_015627.3(LDLRAP1):c.34A>G (p.Ile12Val)	LDLRAP1, LOC129929773 (I12V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1739527	NM_015627.3(LDLRAP1):c.42C>T (p.Ser14=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 296971	NM_015627.3(LDLRAP1):c.45C>T (p.Pro15=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 1483562	NM_015627.3(LDLRAP1):c.46A>C (p.Ser16Arg)	LDLRAP1, LOC129929773 (S16R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +1 more	GUncertain significance
Select item 918122	NM_015627.3(LDLRAP1):c.48C>G (p.Ser16Arg)	LDLRAP1, LOC129929773 (S16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2043753	NM_015627.3(LDLRAP1):c.50T>A (p.Leu17Ter)	LDLRAP1, LOC129929773 (L17*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 3118293	NM_015627.3(LDLRAP1):c.51G>T (p.Leu17Phe)	LDLRAP1, LOC129929773 (L17F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1079902	NM_015627.3(LDLRAP1):c.51G>A (p.Leu17=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1570957	NM_015627.3(LDLRAP1):c.54C>T (p.Ala18=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2850621	NM_015627.3(LDLRAP1):c.58C>T (p.Gln20Ter)	LDLRAP1, LOC129929773 (Q20*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2448691	NM_015627.3(LDLRAP1):c.59A>C (p.Gln20Pro)	LDLRAP1, LOC129929773 (Q20P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1573864	NM_015627.3(LDLRAP1):c.63C>T (p.Ser21=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 947831	NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs)	LDLRAP1, LOC129929773 (G25fs)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 4	GPathogenic/Likely pathogenic
Select item 296972	NM_015627.3(LDLRAP1):c.64T>C (p.Trp22Arg)	LDLRAP1, LOC129929773 (W22R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2049411	NM_015627.3(LDLRAP1):c.65G>T (p.Trp22Leu)	LDLRAP1, LOC129929773 (W22L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 1754413	NM_015627.3(LDLRAP1):c.65G>C (p.Trp22Ser)	LDLRAP1, LOC129929773 (W22S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 468290	NM_015627.3(LDLRAP1):c.71del (p.Gly24fs)	LDLRAP1, LOC129929773 (G24fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 4773	NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter)	LDLRAP1, LOC129929773 (W22*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2437212	NM_015627.3(LDLRAP1):c.66G>A (p.Trp22Ter)	LDLRAP1, LOC129929773 (W22*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 1754991	NM_015627.3(LDLRAP1):c.66G>T (p.Trp22Cys)	LDLRAP1, LOC129929773 (W22C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1754988	NM_015627.3(LDLRAP1):c.66G>C (p.Trp22Cys)	LOC129929773, LDLRAP1 (W22C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755514	NM_015627.3(LDLRAP1):c.67G>C (p.Gly23Arg)	LDLRAP1, LOC129929773 (G23R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +2 more	GUncertain significance
Select item 1389522	NM_015627.3(LDLRAP1):c.67G>T (p.Gly23Trp)	LDLRAP1, LOC129929773 (G23W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 1159633	NM_015627.3(LDLRAP1):c.69G>T (p.Gly23=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1389452	NM_015627.3(LDLRAP1):c.70G>A (p.Gly24Ser)	LDLRAP1, LOC129929773 (G24S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +1 more	GUncertain significance
Select item 2024615	NM_015627.3(LDLRAP1):c.72C>T (p.Gly24=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1082393	NM_015627.3(LDLRAP1):c.72C>G (p.Gly24=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 4777	NM_015627.3(LDLRAP1):c.74dup (p.Gly26fs)	LDLRAP1, LOC129929773 (G26fs)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 296973	NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 944672	NM_015627.3(LDLRAP1):c.76G>A (p.Gly26Ser)	LDLRAP1, LOC129929773 (G26S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 699049	NM_015627.3(LDLRAP1):c.78C>T (p.Gly26=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2501217	NM_015627.3(LDLRAP1):c.79C>T (p.Arg27Trp)	LDLRAP1, LOC129929773 (R27W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2521305	NM_015627.3(LDLRAP1):c.80G>A (p.Arg27Gln)	LDLRAP1, LOC129929773 (R27Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448694	NM_015627.3(LDLRAP1):c.80G>C (p.Arg27Pro)	LDLRAP1, LOC129929773 (R27P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2497094	NM_015627.3(LDLRAP1):c.84C>G (p.His28Gln)	LDLRAP1, LOC129929773 (H28Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1496826	NM_015627.3(LDLRAP1):c.88+5G>A	LDLRAP1, LOC129929773	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 2002156	NM_015627.3(LDLRAP1):c.88+7G>T	LDLRAP1, LOC129929773	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 876116	NM_015627.3(LDLRAP1):c.88+8T>A	LDLRAP1, LOC129929773	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GConflicting classifications of pathogenicity
Select item 1392879	NM_015627.3(LDLRAP1):c.88+13G>A	LDLRAP1, LOC129929773	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2795212	NM_015627.3(LDLRAP1):c.88+14C>A	LDLRAP1, LOC129929773	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1804803	NM_015627.3(LDLRAP1):c.88+15G>T	LDLRAP1, LOC129929773	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2869732	NM_015627.3(LDLRAP1):c.88+18_88+22dup	LDLRAP1, LOC129929773	Duplication (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2856607	NM_015627.3(LDLRAP1):c.88+17C>T	LDLRAP1, LOC129929773	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2745685	NM_015627.3(LDLRAP1):c.88+19GCCGG[4]	LDLRAP1, LOC129929773	Microsatellite (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2911443	NM_015627.3(LDLRAP1):c.89-20C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2199270	NM_015627.3(LDLRAP1):c.89-17A>G	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2713982	NM_015627.3(LDLRAP1):c.89-14del	LDLRAP1	Deletion (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2066320	NM_015627.3(LDLRAP1):c.89-16C>T	LDLRAP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2981857	NM_015627.3(LDLRAP1):c.89-14C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2919647	NM_015627.3(LDLRAP1):c.89-13T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1617577	NM_015627.3(LDLRAP1):c.89-8T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2742064	NM_015627.3(LDLRAP1):c.89-6C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2169010	NM_015627.3(LDLRAP1):c.89-5C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1534001	NM_015627.3(LDLRAP1):c.89-4C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1144162	NM_015627.3(LDLRAP1):c.89-4C>G	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 1455119	NM_015627.3(LDLRAP1):c.89-2A>G	LDLRAP1	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 4779	NM_015627.3(LDLRAP1):c.89-1G>C	LDLRAP1	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 1090213	NM_015627.3(LDLRAP1):c.93G>C (p.Leu31=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 3290419	NM_015627.3(LDLRAP1):c.99G>A (p.Glu33=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1770622	NM_015627.3(LDLRAP1):c.102C>A (p.Asn34Lys)	LDLRAP1 (N34K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1394189	NM_015627.3(LDLRAP1):c.104G>A (p.Trp35Ter)	LDLRAP1 (W35*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2832489	NM_015627.3(LDLRAP1):c.105G>A (p.Trp35Ter)	LDLRAP1 (W35*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 1510556	NM_015627.3(LDLRAP1):c.107C>T (p.Thr36Ile)	LDLRAP1 (T36I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +1 more	GUncertain significance

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