"Ambry Genetics"[submitter] AND "ACP5"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2285267	NM_001611.5(ACP5):c.883G>A (p.Val295Met)	ACP5 (V295M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431793	NM_001611.5(ACP5):c.806G>A (p.Arg269Gln)	ACP5 (R269Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2292694	NM_001611.5(ACP5):c.794A>G (p.Asp265Gly)	ACP5 (D265G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561268	NM_001611.5(ACP5):c.743A>G (p.Gln248Arg)	ACP5 (Q248R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 850520	NM_001611.5(ACP5):c.715G>A (p.Gly239Ser)	ACP5 (G239S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 959705	NM_001611.5(ACP5):c.673C>T (p.Arg225Trp)	ACP5 (R225W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1050885	NM_001611.5(ACP5):c.527G>A (p.Arg176Gln)	ACP5 (R176Q)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GUncertain significance
Select item 521783	NM_001611.5(ACP5):c.526C>T (p.Arg176Ter)	ACP5 (R176*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1051590	NM_001611.5(ACP5):c.421T>G (p.Phe141Val)	ACP5 (F141V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2340706	NM_001611.5(ACP5):c.386G>T (p.Arg129Leu)	ACP5 (R129L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1384700	NM_001611.5(ACP5):c.340C>T (p.Leu114Phe)	ACP5 (L114F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 29833	NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)	ACP5 (G109R)	Single nucleotide variant (missense variant)	ACP5-related condition +2 more	GPathogenic/Likely pathogenic
Select item 651241	NM_001611.5(ACP5):c.316G>A (p.Val106Met)	ACP5 (V106M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 852539	NM_001611.5(ACP5):c.277G>A (p.Val93Ile)	ACP5 (V93I)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GUncertain significance
Select item 566480	NM_001611.5(ACP5):c.238G>A (p.Asp80Asn)	ACP5 (D80N)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GUncertain significance
Select item 1492477	NM_001611.5(ACP5):c.166C>T (p.Arg56Trp)	ACP5 (R56W)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GUncertain significance
Select item 648426	NM_001611.5(ACP5):c.149A>G (p.Asn50Ser)	ACP5 (N50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 955959	NM_001611.5(ACP5):c.17C>T (p.Ala6Val)	ACP5 (A6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity