LOC129930669[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 2498184	NC_000001.11:g.63395673_63749318del	ALG6, DLEU2L +9 more	Deletion	Craniosynostosis syndrome	GUncertain significance
Select item 2155662	NM_002633.3(PGM1):c.243C>T (p.Asn81=)	LOC129930669, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2304561	NM_002633.3(PGM1):c.244G>A (p.Gly82Arg)	LOC129930669, PGM1 (G82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874605	NM_002633.3(PGM1):c.244G>T (p.Gly82Trp)	LOC129930669, PGM1 (G82W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160644	NM_002633.3(PGM1):c.246G>A (p.Gly82=)	LOC129930669, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2077737	NM_002633.3(PGM1):c.246+8A>G	LOC129930669, PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 1914919	NM_002633.3(PGM1):c.246+11C>T	LOC129930669, PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2140956	NM_002633.3(PGM1):c.246+20_246+21delinsAA	LOC129930669, PGM1	Indel (intron variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 1259045	NM_002633.3(PGM1):c.246+67C>T	LOC129930669, PGM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1216633	NM_002633.3(PGM1):c.246+88C>T	PGM1, LOC129930669	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1204360	NM_002633.3(PGM1):c.246+197C>T	LOC129930669, PGM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 676174	NM_002633.3(PGM1):c.246+239C>G	LOC129930669, PGM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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Items: 22