LAD1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	ADIPOR1, ARL8A +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 2365885	NM_005558.4(LAD1):c.1184T>G (p.Met395Arg)	LAD1 (M395R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355460	NM_005558.4(LAD1):c.1154C>T (p.Ser385Leu)	LAD1 (S385L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791519	NM_005558.4(LAD1):c.990G>A (p.Pro330=)	LAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775639	NM_005558.4(LAD1):c.864G>A (p.Glu288=)	LAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767741	NM_005558.4(LAD1):c.591C>T (p.Ser197=)	LAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780294	NM_005558.4(LAD1):c.483_484del (p.Leu161fs)	LAD1 (L161fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 771842	NM_005558.4(LAD1):c.191G>A (p.Ser64Asn)	LAD1 (S64N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2410949	NM_005558.4(LAD1):c.159C>A (p.Asp53Glu)	LAD1 (D53E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214643	NM_005558.4(LAD1):c.143T>G (p.Leu48Arg)	LAD1 (L48R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221466	NM_005558.4(LAD1):c.127G>A (p.Asp43Asn)	LAD1 (D43N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243936	NM_005558.4(LAD1):c.28G>A (p.Ala10Thr)	LAD1 (A10T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565211	GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3	ASCL5, CACNA1S +15 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 29