ACBD4[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59587	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1	ACBD4, C1QL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 2250414	NM_133373.5(PLCD3):c.162G>A (p.Met54Ile)	PLCD3, ACBD4 (M54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331103	NM_133373.5(PLCD3):c.113C>A (p.Pro38His)	PLCD3, ACBD4 (P38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341383	NM_133373.5(PLCD3):c.104C>T (p.Pro35Leu)	ACBD4, PLCD3 (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465778	NM_133373.5(PLCD3):c.56C>T (p.Ala19Val)	ACBD4, LOC130061004 +1 more (A19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487225	NM_133373.5(PLCD3):c.31C>T (p.Arg11Cys)	ACBD4, LOC130061004 +1 more (R11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302419	NM_001135705.3(ACBD4):c.104C>T (p.Ser35Phe)	ACBD4 (S35F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455389	NM_001135705.3(ACBD4):c.107A>G (p.Tyr36Cys)	ACBD4 (Y36C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495972	NM_001135705.3(ACBD4):c.178G>A (p.Gly60Arg)	ACBD4 (G60R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601152	NM_001135705.3(ACBD4):c.385C>T (p.Pro129Ser)	ACBD4 (P129S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267638	NM_001135705.3(ACBD4):c.388C>G (p.Pro130Ala)	ACBD4 (P52A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546365	NM_001135705.3(ACBD4):c.446T>C (p.Val149Ala)	ACBD4 (V149A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2239873	NM_001135705.3(ACBD4):c.504G>A (p.Glu168=)	ACBD4 (S103N +1 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204443	NM_001135705.3(ACBD4):c.629C>T (p.Pro210Leu)	ACBD4 (P145S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237075	NM_001135705.3(ACBD4):c.638C>G (p.Pro213Arg)	ACBD4 (P213R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355253	NM_001135705.3(ACBD4):c.671C>T (p.Pro224Leu)	ACBD4 (R221W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2494231	NM_001135705.3(ACBD4):c.837G>T (p.Pro279=)	ACBD4 (G233W +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2346299	NM_001135705.3(ACBD4):c.840G>A (p.Gly280=)	ACBD4 (A234T +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2553198	NM_001135705.3(ACBD4):c.846G>A (p.Ala282=)	ACBD4 (A236T +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2302814	NM_001135705.3(ACBD4):c.861C>T (p.Leu287=)	ACBD4 (P241S +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2495198	NM_001135705.3(ACBD4):c.881A>C (p.Gln294Pro)	ACBD4 (Q294P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 442257	GRCh37/hg19 17q21.31(chr17:42649083-43659985)x3	ACBD4, ADAM11 +20 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 29