ClinVar for Gene (Select 219539) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333721	NM_145008.3(YPEL4):c.264G>C (p.Glu88Asp)	MIR130AHG, YPEL4 (E88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191629	NM_145008.3(YPEL4):c.97C>T (p.His33Tyr)	MIR130AHG, YPEL4 (H33Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191628	NM_145008.3(YPEL4):c.196G>A (p.Gly66Ser)	MIR130AHG, YPEL4 (G66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2601109	NM_145008.3(YPEL4):c.70C>T (p.Arg24Cys)	MIR130AHG, YPEL4 (R24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468348	NM_145008.3(YPEL4):c.242C>T (p.Ser81Leu)	MIR130AHG, YPEL4 (S81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281367	NM_145008.3(YPEL4):c.19G>A (p.Gly7Ser)	MIR130AHG, YPEL4 (G7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1372008	NC_000011.9:g.(?_57365055)_(57428908_?)dup	CLP1, MIR130A +2 more	Duplication	not provided	GUncertain significance
Select item 1341252	GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3	CLP1, MIR130A +14 more	Copy number gain	not provided	GUncertain significance
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 1076333	NC_000011.9:g.(?_57235082)_(57467503_?)del	CLP1, MIR130A +8 more	Deletion	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 22