APH1A[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 57468	GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1	ANP32E, APH1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 149773	GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3	ADAMTSL4, ADAMTSL4-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 2323076	NM_001077628.3(APH1A):c.721C>G (p.Arg241Gly)	APH1A (R241G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336516	NM_001077628.3(APH1A):c.556C>T (p.Arg186Trp)	APH1A (R186W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553010	NM_001077628.3(APH1A):c.325A>G (p.Arg109Gly)	APH1A (R109G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3042111	NM_001077628.3(APH1A):c.285-16CCCCA[4]	APH1A	Microsatellite (splice acceptor variant +1 more)	APH1A-related disorder	GLikely benign
Select item 3127813	NM_001077628.3(APH1A):c.253G>A (p.Val85Met)	APH1A (V85M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2390924	NM_001077628.3(APH1A):c.196C>T (p.Arg66Trp)	APH1A (R66W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385486	NM_001077628.3(APH1A):c.181G>A (p.Asp61Asn)	APH1A (D61N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601307	NM_001077628.3(APH1A):c.151G>A (p.Val51Met)	APH1A (V51M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127811	NM_001077628.3(APH1A):c.145G>T (p.Ala49Ser)	APH1A (A49S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293764	NM_001077628.3(APH1A):c.66G>C (p.Leu22Phe)	APH1A, C1orf54 (L22F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425201	NC_000001.10:g.(?_150039915)_(150464158_?)dup	ANP32E, APH1A +9 more	Duplication	not provided	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	HCN3, HDGF +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1411622	NC_000001.10:g.(?_150044213)_(150477474_?)dup	ANP32E, APH1A +9 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 25