LAMP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	ABCC4, ABHD13 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	ABCC4, ABHD13 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC132090867, MBNL2 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130009970, LOC130009971 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 57714	GRCh38/hg38 13q34(chr13:111541166-113671678)x1	ADPRHL1, ATP11A +83 more	Copy number loss	See cases	GPathogenic
Select item 59929	GRCh38/hg38 13q34(chr13:112292922-113636272)x3	ADPRHL1, ATP11A +68 more	Copy number gain	See cases	GPathogenic
Select item 2273194	NM_005561.4(LAMP1):c.22C>G (p.Arg8Gly)	LAMP1, LOC130010178 (R8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236587	NM_005561.4(LAMP1):c.53T>C (p.Leu18Pro)	LAMP1, LOC130010178 (L18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412493	NM_005561.4(LAMP1):c.74G>A (p.Cys25Tyr)	LAMP1 (C25Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117743	NM_005561.4(LAMP1):c.75T>G (p.Cys25Trp)	LAMP1 (C25W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515980	NM_005561.4(LAMP1):c.94A>G (p.Met32Val)	LAMP1 (M32V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 782880	NM_005561.4(LAMP1):c.107G>A (p.Gly36Asp)	LAMP1 (G36D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2612107	NM_005561.4(LAMP1):c.194T>C (p.Phe65Ser)	LAMP1 (F65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781833	NM_005561.4(LAMP1):c.224T>C (p.Leu75Pro)	LAMP1 (L75P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3117737	NM_005561.4(LAMP1):c.337G>A (p.Val113Ile)	LAMP1 (V113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791368	NM_005561.4(LAMP1):c.379C>G (p.Leu127Val)	LAMP1 (L127V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3117738	NM_005561.4(LAMP1):c.389A>G (p.Asn130Ser)	LAMP1 (N130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556015	NM_005561.4(LAMP1):c.389A>T (p.Asn130Ile)	LAMP1 (N130I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117739	NM_005561.4(LAMP1):c.397T>C (p.Ser133Pro)	LAMP1 (S133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310595	NM_005561.4(LAMP1):c.446T>C (p.Ile149Thr)	LAMP1 (I149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251995	NM_005561.4(LAMP1):c.491A>G (p.Asn164Ser)	LAMP1 (N164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117740	NM_005561.4(LAMP1):c.502G>A (p.Val168Ile)	LAMP1 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461509	NM_005561.4(LAMP1):c.533A>G (p.Tyr178Cys)	LAMP1 (Y178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117741	NM_005561.4(LAMP1):c.546C>G (p.Ser182Arg)	LAMP1 (S182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715526	NM_005561.4(LAMP1):c.562+4G>A	LAMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2236377	NM_005561.4(LAMP1):c.582C>A (p.Asp194Glu)	LAMP1 (D194E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531032	NM_005561.4(LAMP1):c.640C>T (p.Pro214Ser)	LAMP1 (P214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485444	NM_005561.4(LAMP1):c.652T>C (p.Ser218Pro)	LAMP1 (S218P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117742	NM_005561.4(LAMP1):c.752C>T (p.Thr251Met)	LAMP1 (T251M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541649	NM_005561.4(LAMP1):c.772A>G (p.Ile258Val)	LAMP1 (I258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151063	GRCh38/hg38 13q34(chr13:113321284-113352000)x1	GRTP1, GRTP1-AS1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2478132	NM_005561.4(LAMP1):c.880G>T (p.Ala294Ser)	LAMP1 (A294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362446	NM_005561.4(LAMP1):c.893G>A (p.Arg298Gln)	LAMP1 (R298Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117744	NM_005561.4(LAMP1):c.928C>A (p.Leu310Ile)	LAMP1 (L310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289919	NM_005561.4(LAMP1):c.967G>A (p.Gly323Ser)	LAMP1 (G323S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117745	NM_005561.4(LAMP1):c.977G>A (p.Arg326Gln)	LAMP1 (R326Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343956	NM_005561.4(LAMP1):c.1004C>G (p.Ser335Cys)	LAMP1 (S335C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730962	NM_005561.4(LAMP1):c.1017C>T (p.Asn339=)	LAMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2295267	NM_005561.4(LAMP1):c.1052C>T (p.Ser351Leu)	LAMP1 (S351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711341	NM_005561.4(LAMP1):c.1134C>T (p.Asp378=)	LAMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3117736	NM_005561.4(LAMP1):c.1195G>A (p.Val399Ile)	LAMP1 (V399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711342	NM_005561.4(LAMP1):c.1197C>G (p.Val399=)	LAMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409948	NM_005561.4(LAMP1):c.1221G>C (p.Arg407Ser)	LAMP1 (R407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374921	NM_005561.4(LAMP1):c.1227G>C (p.Arg409Ser)	LAMP1 (R409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643983	NM_005561.4(LAMP1):c.1233C>T (p.His411=)	LAMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	MCF2L, TFDP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic

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