51107[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	SELENBP1, SEMA4A +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	FCGR3A, LCE3C +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25