LAMP3[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ALG3, AP2M1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ABCC5, ABCC5-AS1 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	LOC129938004, LOC129938005 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 149403	GRCh38/hg38 3q26.33-27.1(chr3:182865842-183895718)x3	ATP11B, B3GNT5 +55 more	Copy number gain	See cases	GUncertain significance
Select item 522887	NM_014398.4(LAMP3):c.1172_1173del (p.Val391fs)	LAMP3 (V391fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2619186	NM_014398.4(LAMP3):c.1168A>G (p.Ile390Val)	LAMP3 (I390V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363836	NM_014398.4(LAMP3):c.1018G>A (p.Val340Met)	LAMP3 (V340M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465299	NM_014398.4(LAMP3):c.1000G>A (p.Gly334Arg)	LAMP3 (G334R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270972	NM_014398.4(LAMP3):c.976G>A (p.Val326Met)	LAMP3 (V326M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527514	NM_014398.4(LAMP3):c.950C>T (p.Thr317Ile)	LAMP3 (T317I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615229	NM_014398.4(LAMP3):c.922G>A (p.Ala308Thr)	LAMP3 (A308T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627107	NM_014398.4(LAMP3):c.862G>A (p.Gly288Arg)	LAMP3 (G288R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2594107	NM_014398.4(LAMP3):c.840C>A (p.Asn280Lys)	LAMP3 (N280K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404443	NM_014398.4(LAMP3):c.830G>A (p.Arg277Gln)	LAMP3 (R277Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2334937	NM_014398.4(LAMP3):c.814G>A (p.Gly272Arg)	LAMP3 (G272R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325077	NM_014398.4(LAMP3):c.809C>A (p.Ala270Asp)	LAMP3 (A270D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409292	NM_014398.4(LAMP3):c.803C>T (p.Thr268Met)	LAMP3 (T268M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510785	NM_014398.4(LAMP3):c.726G>A (p.Met242Ile)	LAMP3 (M242I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310888	NM_014398.4(LAMP3):c.646C>G (p.Leu216Val)	LAMP3 (L216V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595323	NM_014398.4(LAMP3):c.544G>A (p.Gly182Ser)	LAMP3 (G182S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2275896	NM_014398.4(LAMP3):c.487A>G (p.Ser163Gly)	LAMP3 (S163G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508517	NM_014398.4(LAMP3):c.476C>A (p.Thr159Asn)	LAMP3 (T159N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467272	NM_014398.4(LAMP3):c.391C>T (p.Pro131Ser)	LAMP3 (P131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596379	NM_014398.4(LAMP3):c.278A>G (p.Asn93Ser)	LAMP3 (N93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2302026	NM_014398.4(LAMP3):c.224T>C (p.Phe75Ser)	LAMP3 (F75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2405979	NM_014398.4(LAMP3):c.217A>C (p.Ile73Leu)	LAMP3 (I73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382297	NM_014398.4(LAMP3):c.61G>A (p.Asp21Asn)	LAMP3 (D21N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	ABCC5, ABCF3 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 986761	GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1	ATP11B, SOX2 +11 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986758	GRCh37/hg19 3q27.1(chr3:182871341-182987855)x1	B3GNT5, LAMP3 +1 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986756	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	ECE2, FAM131A +34 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 688042	GRCh37/hg19 3q27.1(chr3:182787792-182922112)x1	LAMP3, MCCC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 58