8994[HGNC] - ClinVar - NCBI

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Items: 19

	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 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 2393081	NM_001135638.2(PIP5K1A):c.59C>T (p.Ala20Val)	PIP5K1A (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253818	NM_001135638.2(PIP5K1A):c.910C>T (p.Leu304Phe)	PIP5K1A (L291F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233798	NM_001135638.2(PIP5K1A):c.1111G>T (p.Ala371Ser)	PIP5K1A (A358S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064175	NM_001135638.2(PIP5K1A):c.1114C>T (p.Arg372Ter)	PIP5K1A (R359* +2 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder 60 with seizures	GLikely pathogenic
Select item 2228454	NM_001135638.2(PIP5K1A):c.1297C>T (p.Arg433Cys)	PIP5K1A (R393C +3 more)	Single nucleotide variant (missense variant)	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 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 1527282	GRCh37/hg19 1q21.3(chr1:151179825-151377786)	PI4KB, PIP5K1A +6 more	Copy number loss	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1023952	NC_000001.10:g.(?_151122490)_(151585008_?)dup	PSMB4, PIP5K1A +14 more	Duplication	Severe myoclonic epilepsy in infancy	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 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
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