LOC125146368[gene] - ClinVar

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Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 more	Copy number loss	See cases	GPathogenic
Select item 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 146679	GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3	ADAMTS17, ALDH1A3 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 58385	GRCh38/hg38 15q26.3(chr15:100447986-101062436)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 147911	GRCh38/hg38 15q26.3(chr15:100455891-101105126)x3	ALDH1A3, ALDH1A3-AS1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 58225	GRCh38/hg38 15q26.3(chr15:100455891-101069775)x1	LRRK1, ALDH1A3 +32 more	Copy number loss	See cases	GUncertain significance
Select item 148565	GRCh38/hg38 15q26.3(chr15:100472094-101062436)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 58386	GRCh38/hg38 15q26.3(chr15:100502358-101087274)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 150646	GRCh38/hg38 15q26.3(chr15:100515544-101045707)x3	ALDH1A3, ALDH1A3-AS1 +31 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 2964395	NM_024652.6(LRRK1):c.1533-17_1533-16del	LOC125146368, LRRK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1935169	NM_024652.6(LRRK1):c.1533-3C>A	LOC125146368, LRRK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1422136	NM_024652.6(LRRK1):c.1533A>C (p.Lys511Asn)	LOC125146368, LRRK1 (K511N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193220	NM_024652.6(LRRK1):c.1542T>C (p.Asp514=)	LOC125146368, LRRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275319	NM_024652.6(LRRK1):c.1544G>T (p.Gly515Val)	LOC125146368, LRRK1 (G515V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3005156	NM_024652.6(LRRK1):c.1548G>C (p.Leu516=)	LOC125146368, LRRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708842	NM_024652.6(LRRK1):c.1551A>G (p.Lys517=)	LOC125146368, LRRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432309	NM_024652.6(LRRK1):c.1558C>T (p.Arg520Cys)	LOC125146368, LRRK1 (R520C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117314	NM_024652.6(LRRK1):c.1566C>T (p.Ala522=)	LOC125146368, LRRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490125	NM_024652.6(LRRK1):c.1591C>G (p.Arg531Gly)	LOC125146368, LRRK1 (R531G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1917360	NM_024652.6(LRRK1):c.1596C>T (p.Ser532=)	LOC125146368, LRRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537184	NM_024652.6(LRRK1):c.1599G>A (p.Gly533=)	LOC125146368, LRRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018791	NM_024652.6(LRRK1):c.1602T>G (p.Thr534=)	LOC125146368, LRRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978487	NM_024652.6(LRRK1):c.1609+7G>A	LOC125146368, LRRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880388	NM_024652.6(LRRK1):c.1609+16G>A	LOC125146368, LRRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029656	NM_024652.6(LRRK1):c.1609+19A>G	LOC125146368, LRRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 52